DIABETES 68bc77e2 4d84 42e9 85b7 cec075ef7601 doc NEONATES

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DIABETES 68bc77e2 4d84 42e9 85b7 cec075ef7601 doc NEONATES Powered By Docstoc
 NEONATES                                                                                              Disadvantage: Repeated lengthening in growing child.
 For More Neonate Info  Australian Royal Price Albert H Website:                           Others: Lumboperitoneal / Torkildsen / Ventriculopleural.
 Http:// Protocols                      OTHER SURGICAL PROCEDURES for Rapid-onset hydrocephalus
                                                                                          with increased ICP.
 HYDROCEPHALUS                                                                              Ventricular Tap
 Def   Disturbance of FORMATION / FLOW / ABSORPTION of CSF                                Open ventricular drainage
       Volume occupied in the CNS.                                                          LP in Posthemorrhagic & Postmeningitic hydrocephalus
 PP                                                                             Prog       Long-term outcome related directly to cause of hydrocephalus.
 Path     FORMATION                                                                        Up to 50% with large intraventricular haemorrhage 
          FLOW (indirectly inhibits absorption)                                                 Permanent hydrocephalus requiring shunt.
          ABSORPTION                                                                       Associations w: Mental Retardation, Cerebral Palsy, Epilepsy.
          Stenoses of the aqueduct of Sylvius due to malformation (10%          NEONATAL JAUNDICE
             of HC in Newborns).                                                 Def      Jaundice may be N >24hrs after birth.
          Others:                                                                        Not Normal <24hrs after birth.
                    Dandy-Walker malformation                                   PP      
                    Arnold-Chiari malformation type 1 and type 2                Cause HYPERBILIRUBINAEMIA: (<200mcmol/L) > 24 hrs after birth is N
                    Agenesis of the foramen of Monro                                  and may be physiological:
                    Congenital toxoplasmosis                                             Hepatic immaturity:
                    Bickers-Adams syndrome                                                          Poor bilirubin conjugation +/- removal & destruction
       ACQUIRED CAUSES IN INFANTS AND CHILDREN                                                         of fetal RBCs.
          MASS LESIONS: 20% of all cases of hydrocephalus in                                        Albumin  unconjugated bilirubin left unbound.
             children. Usually tumours (e.g. medulloblastoma, astrocytoma),               Absence of gut flora  < elimination of bile pigment.
             but cysts, abscesses, or haematoma also can be the cause.                     Fluid intake  > concentrated bilirubin.
          INTRAVENTRICULAR HAEMORRHAGE. Can be related to                             JAUNDICE WITHIN 24Hrs OF BIRTH:
             prematurity, head injury, or rupture of a vascular malformation.             Sepsis
          INFECTIONS: Meningitis (especially bacterial).                                 Rhesus Haemolytic Disease: +ve Direct Coombs test.
          INCREASED VENOUS SINUS PRESSURE: This can be                                   ABO Incompatibility: DCT +ve in 4%. Coombs +ve in 8%.
             related to achondroplasia, some craniostenoses, or venous                       Maternal IgG anti-A or anti-B haemolysin always present.
             thrombosis.                                                                            Mother O, Baby A/B
          IATROGENIC: E.g. Hypervitaminosis A , by increasing                                      Mother A, Baby B
             secretion of CSF or by increasing permeability of the blood-                           Mother B, Baby A
             brain barrier, can lead to hydrocephalus.                                    Red Cell anomalies: Congenital spherocytosis (Dx: Blood film),
          IDIOPATHIC                                                                        6-phosphate dehydrogenase deficiency (Dx: Enzyme assay).
 S&S   SYMPTOMS in Infants                                                             PROLONGED JAUNDICE (Not fading after 9 days):
          Poor feeding & Activity                                                        Breast feeding
          Irritability & Vomiting                                                        Sepsis (UTI & TORCH)
       SIGNS in Infants                                                                   Hypothyroidism
          SIZE of head Increased: Circumference  98th %ile for age.                     Cystic Fibrosis
          SUTURE Dysjunction & Tense fontanelle: This can be seen or                     Biliary Atresia (esp if > 14 days)
             palpated. The anterior fontanelle in infants who are held erect              Galactosaemia: Urine tests for reducing agests +ve.
             and are not crying may be excessively tense.                              KERNICTERUS [If Bilirubin >360mcmol/L; < in prems…deposit of bile
          SCALP veins dilated: Scalp is thin with easily visible veins.               pigments in nuclei of brain & spinal +/or degeneration of nerve cells]
          SETTING-SUN sign: Characteristic in infants of increased ICP.                  (Signs: Sleepy +/- poor suck (Stage 1)  setting sun lid
             Both ocular globes are deviated downward, the upper lids are                    retraction, odd movements, cerebral palsy, deafness,  IQ (
             retracted, and the white sclerae may be visible above the iris.                 Stage 5)
          SPASTICITY  Limb tone preferentially affects the lower limbs.                 Lesser levels (170-323) unlikely to  permanent problems, &
             The cause is stretching of the periventricular pyramidal tract                  have < effect on IQ unless Preterm/Light for Dates.
             fibres by hydrocephalus.                                                     Prevented by phototherapy +/- transfusion
       SYMPTOMS in Children                                                            OTHERS:
          Slowing of mental capacity                                                     Bruising, G6PD Deficiency
          Headaches, Vomiting & Drowsiness                                      Mx    See: RHESUS HAEMOLYTIC DISEASE Mx.
          Neck pain suggesting tonsillar herniation
          Blurred vision – Due to papilledema and later optic atrophy           RHESUS HAEMOLYTIC DISEASE
          Double vision - Related to unilateral / bilateral sixth nerve palsy   Def       A cause of haemolysis manifesting in first 24 hours of life due
          Difficulty in walking secondary to spasticity: See Above                            to rhesus incompatibility between mother and baby
       SIGNS in Children                                                         PP        Responsible for the deaths of 25 - 30 babies and  45 more to
          Papilloedema: If  ICP not treated, may  Optic atrophy &                           suffer developmental problems /yr in Eng & Wales.
             vision loss.                                                                  62,000 births of Rhesus +ve babies to Rhesus -ve ♀ / Year in
          Failure of upward gaze: Due to pressure on tectal plate through                     Eng & Wales…~ 500 Of These  Develop haemolytic disease.
             suprapineal recess.                                                           Only ~ 1/3 NHS H in Eng & Wales offer Anti D Prophylaxis
          Macewen sign: "Cracked pot" sound with percussion of head.            Phys   RH GROUPS
          Unsteady gait: This is related to spasticity in lower extremities.              In 85% population, RBCs have D antigen  such people are
          Large head: Sutures are closed, but chronic increased ICP will
                                                                                               Rhesus +ve (coded for by dominant D gene)
             lead to progressive abnormal head growth.
                                                                                           Antibody of D antigen not N found in Rh- people, but exposure
          Unilateral or bilateral sixth nerve palsy is secondary to  ICP.
                                                                                               to Rh+ blood may  production of IgG (isoimmunisation).
                                                                                                      Rh- mother with Rh+ child (where small amount of
 Inv / ULTRA S           (Evaluates intraventricular haemorrhage) through                                Fetal red cells leak into maternal circulation)
 Dx                     anterior fontanelle useful. < Informative than CT.
                                                                                                      Transfusion.
       SKULL XR                                                                 Path   HAEMOLYTIC DISEASE OF NEWBORN (aka erythroblastosis fetalis)
       CT / MRI                                                                           May occur esp in 2nd pregnancy after mixing of blood during
 Mx    MANAGEMENT- MEDICAL                                                                     labour of first…1st Preg- generally not enough antibodies made
          Used to delay surgical intervention. May be tried in premature                      but may be affected due to leaks:
             infants with post-haemorrhagic hydrocephalus (in absence of                              Eg: Threatened Abortion, APH, Mild Trauma,
             acute hydrocephalus). N CSF absorption may resume                                           Amniocenesis, CVS, External cephalic version.
             spontaneously during this interim period.                                     IgG cross placenta  agglutination occurs  haemolysis 
           CSF Secretion by choroid plexus - Acetazolamide &                                 Anaemia + comps:
             Furosemide                                                                               Haem broken down  Jaundice
           CSF Reabsorption - Isosorbide (effectiveness questionable)
                                                                                                      If agglutination severe = Severe Jaundice + Oedema
       MANAGEMENT- SURGICAL (Shunts)                                                                     (HYDROPS FETALIS) may  Death.
          Eventually performed in majority of patients. Only ~ 25% with
                                                                                 S&S       Jaundice on Day 1 or later.
             hydrocephalus treated successfully without shunt placement.
                                                                                           Heart Failure: Oedema, Ascites
          Principle: To establish communication b/w CSF (ventricular or
                                                                                           Progressive anaemia: Bleeding
             lumbar) and drainage cavity (peritoneum, right atrium, pleura).
                                                                                           Yellow vernix
          A ventriculoperitoneal (VP) shunt used most commonly.
                                                                                           Hepatosplenomegaly
                    Lateral ventricle usual proximal location Peritoneum.                CNS signs (bilirubin may accumulate in basal ganglia)
                    Advantage: No need to lengthen catheter with growth.        DDx    Hydrops Fetalis: Thalassaemia, Infection (toxoplasmosis, CMV,
          A ventriculoatrial (VA) shunt (aka vascular shunt).
                                                                                        syphilis, Parvoviruses), Maternal Dm.
                    Cerebral ventricles  Jugular Vein  SVC  RA.
                                                                                 Inv /  PREVENTION
                    Used when patient has abdominal abnormalities (eg,          Dx     D antibody             Test all Rh- mothers @ booking, 28/40, 34/40
                       peritonitis, obesity, extensive abdominal surgery).

WILL WESTON:                                                                                                                               Page 1 of 15
          AFTER DIAGNOSIS                                                                         with Benzylpenicillin.
          FBC              Hb Reticulocytes.                                                   Late infection (>48hrs), coagulase –ve staphs are likely  Tx
          Coombs           IDs RBCs coated with antibody / complement. +ve                       with vancomycin or teicoplanin.
          T                    Result indicates immune cause of haemolysis.        Comp          Mortality: 15-50%
          US               Detect: Oedema, Cardiomegaly, Pericardial
                               effusion, Hepatosplenomegaly, Ascites.              RESPIRATORY DISTRESS SYNDROME (RDS)
          Other            Anti Rh Agglutins present                              Def      
          Blood            Mother Rh-, Baby Rh+ve                                 PP       
          Tests            Anti Rh Titre  in mother                              Risk      Preterm Delivery: 100%: 24-28/40; 50%: 32/40;
                           Reticulocytes                                                                                 nd
                                                                                             Maternal Dm, ♂ Sex, 2 Twin, C-Sect.
                           Bilirubin                                             Path      Insufficient surfactant  Lungs unable to stay expanded 
                           Hypoglycaemia                                                        Reinflation b/w breaths exhausts baby  Respiratory failure.
 Mx       1: ANTI D IMMUNOLOBULIN (Antenatal Anti D Prophylaxis):                  S&S       Worsening tachycardia (>60/min) in 1st 4 hrs after birth
             Indications: All Rh –ve mothers....                                             Inspiratory effort
                        After birth to Rh- ♀ (Destroys Rh+ antibodies before                Grunting
                           sensitisation takes place). Markedly  need for                   Flaring Of Nasal Alae
                           transfusion.                                                      Intercostal Recession
                        Post natal / Still birth                                            Cyanosis
                        All forms of abortion including Threatened if >12/40 as          Mild signs subside > 36hrs.
                           well as ToP.                                            DDx    Transient tachycardia of newborn (due to excess lung fluid; usually
                        Any other potentially significant TPH (Transplacental            resolves >24h), Meconium Aspiration, Congenital pneumonia (Gp B
                           Haemorrhage): CVS, ECV, APH, Uterine procedures                streptococci), Tracheo-oesophageal fistula (suspect if respiratory
                           (Amniocentesis), Abdominal trauma.                             problems after feeds), Congenital lung abnormality.
                        Ectopic Pregnancy                                         Inv    CXR               Diffuse granular patterns. Air bronchograms.
             Kleihauer test should be performed in conjunction on ♀ blood         Mx        If 28/40 intubate at birth (if >700g Tx: Surfactant by ET tube)
                 to confirm transplacental blood loss from fetus to ♀                        Rock gently to aid spread to bronchial tree.
                 determining if a further dose of Anti D is needed.                          Surfactant Prod encouraged by: ♀ Dm, Stress, Smoking.
          2: UV PHOTO DEGRADATION OF BILIRUBIN:                                              Wrap up warmly & take to NICU/SCBU incubator.
             Using phototherapy lamp. May be all that is needed in less                     OXYGEN: Monitor O2 as may  quickly.
                 severe disease. Converts bilirubin  more rapidly eliminated                Monitor blood gases transcutaneously (Aim for PaO2 7-12).
                 compound which otherwise may deposit in basal ganglia and                  Perspex head box (Enhance ambient O2)
                 neurological pathology.                                                     If blood gases worsen  Intubate & support ventilation (start
             S/E: To, Eye damage, Diarrhoea, Separation from ♀, Fluid                          Continuous Positive Airways Pressure before exhaustion sets
                 loss (Give 30mL/day extra water).                                               in- a rising PaCO2 may indicate that CPAP is too high, or
             Intense Phototherapy is an adjunct to Exchange Transfusion                         further ventilation needed).
          3: EXCHANGE TRANSFUSION:                                                           If any deterioration, consider: blocked / dislodged tube,
             Replaces Rh+ blood with Rh-.                                                       infection, faulty ventilator, pneumothorax.
             IVI infusion of warm (37oC) blood, cross matched with ♀ given                  FLUIDS: Avoid milk for 24-48hrs. Give 10% dextrose IVI.
                 via umbilical vein.                                                         NUTRITION: Expert help.
             Stop if pulse rate fluctuates by >20 / min.                          Comp      Chronic Lung Disease (without surfactant, many would not
             Indications in relation to mcmol/ L of bilirubin:                                  survive to progress this far!)
                        Term: Birth (50), 12h (125), 24h (200), 48h (325), 72h    Prog      Signs of poor prognosis: Persistent pulmonary HT, Large RL
                           (350), 4 days (375), 5 days (400)                                     shunt via the ductus;  Dead space fraction in lungs.
                        Premature / Weight <2.5Kg   Term thresholds.
             Comp: Pulse , apnoea, platelets , glucose , Na+                  CHRONIC LUNG DISEASE (CLD) Aka Broncho Pulmonary Dysplasia- BPD
          HYDROPS FETALIS                                                          Def        PaO2 > 28 days old + Relevant CXR abnormalities.
             Find Expert Help                                                     PP        Complication of Respiratory Distress Syndrome
             Find cause (See DDx)                                                 Cause     Classically: Mainly from barotrauma (e.g. with very premature
             Expect to ventilate                                                              babies [<27/40] where lungs are extremely delicate + on
             Monitor plasma glucose and Tx hypoglycaemia                                      ventilator for longer) & O2 toxicity.
             Drain Ascites & Pleural Effusions                                              Also: Surfactant related CLD is multifactorial with airway
             Correct Anaemia                                                                  infections  inflammatory cascades.
             Vit K to  risk of haemorrhage
                                                                                   Path      Persistent hypoxaemia +/- difficult ventilator weaning.
             Give Furosemide for CCF
                                                                                   S&S      
            PROGNOSIS: 90% with non immune HF die in utero. 50% die
            postnatally. Non immune HF not 2o to infection have good prog.                  
 Prog     Mortality < 20% for Hydrops babies.  Maternal antibodies will           DDx      
          persist for some months and  Haemolysis during early life.              Inv /  CXR            Hyperinflation, rounded, radiolucent areas,
                                                                                   Dx                         alternating with thinner strands of radiodensity.
 SEPSIS (See CCC- Emergency for More Detail)                                              Hist           Necrotizing bronchiolitis + alveolar fibrosis.
 PP         Common: 1-10/100,000 births.                                          Mx        Prevention: Postnatal surfactant Tx (+/- Antenatal steroids:
                                                                                               Lung healing & maturity /  Surfactant production / 
 Path        Immune system + Iatrogenic infection.
                                                                                               inflammation. S/E: Major Neurodevelopmental Defects).
 S&S        May be minimal. Cultures take long. Time not on your side!
                                                                                             If protracted: Mechanical ventilation needed + low dose IV
            Unusual crying                         Hypotonia                                 glucocorticoid steroids in 2-3/52 of life.
            Sleepiness                             Vomiting                                Pulm HT: NO + Diuretics (Spironolactone, Hydrochlorthiazide)
            Listlessness                           Rashes
                                                                                   Comp      Mortality: Variable due to complex interactions with surfactant.
            Shock                                  To/
                                                                                             Pulmonary HT  Pulmonary Oedema. Tx with diuretic
            Fits, Apnoea                           Bradycardia
                                                                                             Later: Affected more by respiratory infections.
            Also: Feeding difficulty, abdominal wall reddening (omphalitis),                Indistinguishable from peer group >2yrs old unless PFTs/CXR
                grunting, rib recession,  use of resp muscles, tachypnoea,                  Incidence of asthma > 50% (20% in peers).
                cyanosis, cool peripheries,  capilliary return on skin press.
 Inv /   WBC             Looking at ratio of immature to total neutrophils
                                                                                   NECROTISING ENTEROCOLITIS (NEC)
 Dx                           may help.
                                                                                   Def      Necrosis of bowel mucosa.
         BC              Definitive, but may take ~ 48-72hrs.
                                                                                   PP       Typically occurs at end of 1/52 of life in prem infant on NICU /
         Virology       
                                                                                                SCBU. (Affecting 1-2% admissions to NICU).
         Glucose         Exclude hypoglycaemia.
                                                                                   Cause    May be sporadic / epidemic.
         Platelets                                                                         Prematurity, Rapid advancements of feeds, PDA, Sepsis,
         CXR                                                                                   Ventilation
         LP              CSF for urgent gram stain, cell count, protein &         Path    
                              glucose levels, culture & virology. (Meningitis).    S&S     MILD: Blood passed PR (inc bloody stools)
         Stool           For virology                                                     SEVERE:
         Urine           Microscopy, Culture & Virology                                    Sudden abdominal distension
         ENT             Swab for culture.                                                 Tenderness (+/- perforation)
           Non Specific & unreliable tests: CRP, FBC, Film.                                 Shock
 Mx      ACTION:                                                                            DIC
            Clear airway, Intubate, Ventilate if necessary  correction of                 Sloughing of rectal mucosa.
                acidosis ( bicarb rarely needed).                                          Discolouration
            Set up colloid IV. Exclude Hypoglycaemia. Blood gases. Inv…                    Vomiting
         ANTIBIOTICS:                                                              DDx     
            Early infection (<48hrs), Group B streps / E Coli common  Tx         Inv /  Culture        Faeces

WILL WESTON:                                                                                                                                  Page 2 of 15
 Dx       XR                Erect & Supine: Look for oedematous loops of                  Delay in a single area is of less concern.
                             bowel with intramural gas.                                     Remember to correct for prematurity in 1 2 years!
          Platelet        Mirror disease severity.
             Barrier nurse, culture faeces, Investigations                   PP        
             Xmatch to correct anaemia                                       Cause   MENTAL RETARDATION (SEVERE LEARNING DISABILITIES)
             Antibiotics: Metronidazole + Penicillin + Netilmicin.                      Most common: DS, Fragile X, Cerebral Palsy
             Liase with surgeon: Laparotomy indications: Progressive         ANN        1/3 of children have no identifiable cause, despite karyotyping.
                 distension, perforation.                                      I’M    INTRAUTERINE INFECTION
             PROPHYLAXIS: Antibiotics may  NEC incidence (NNT~10).          HAM                          st
                                                                                         If infected for 1 time during pregnancy with organism such as
 Comp        Perforation  Peritonitis  Death                                            following, severe fetal damage can result  multiple handicaps
                                                                                           and microencephaly. Visual and hearing deficits common.
 ENTERAL (+ PARENTERAL NUTRITION)                                                                 Rubella, Cytomegalovirus (CMV)
 Mx     GENERAL                                                                       FETAL ALCOHOL SYNDROME
           Breast is Best (but not all mothers / neonates can). Expressed               Common cause of learning disability
              breast milk (EBM) is another option as is formula milk.                    Characterised by: Facial appearance, Cardiac defects, Poor
        GAVAGE TUBE FEEDING:                                                               growth, Microencephaly
           Indications: Infant too ill / young to feed normally (eg RDS).               Caused by mod / high intake of OH
           EBM / Formula  NG / Orogastric tube as bolus / continuous.                  Severity related to quantity of OH
           When baby improves,  PO by slowly withdrawing GTF.                       HYPOTHYROIDISM- CONGENITAL
           If PO feeds  Cyanosis, bradycardia, vomiting : may be trying                Now rare cause due to screening.
              too soon.                                                                  Due to abnormal development of thyroid or inborn errors of
        TROPHIC FEEDING (AKA: Minimal Enteral Feeding, Gut Priming,                        thyroxine metabolism
        Hypocaloric Feeding):                                                             Thyroid hormone has devastating effect on growth & Dev
           Complications of no oral nutrition  N S&F GI tract lost (Villi              Babies may look N at birth but may have Cretinism features:
              shorten, Mucosal DNA lost, < Enzyme activity)                                       Coarse faces, Hypotonia, Large tongue, Umbilical
            Most non surgical Prems  give small amount of milk.                                   hernia, Constipation, Prolonged jaundice, Hoarse cry
        PARENTERAL NUTRITION (Via Central vein.)                                         Older babies or children:
           Indications: Post-op, Trauma, Burns, Oral Nutrition Poor, NEC                         Lethargy, Short stature.
           Many checks needed. Complications: Numerous.                                 Thyroid function test reveal  T4 and  TSH
                                                                                         One of few treatable causes of learning disability
 TO ADD: TERM (From Obs Gyn Lectures + Self Directed Slide Show)                                  Thyroid replacement required lifelong and needs
 Def      INTRAPARTUM HYPOXIA, ISCHAEMIA (BIRTH ASPHYXIA)                                            careful monitoring as child grows.
           Path:  acidosis                                                                      If started in first few week and compliance is good,
           PP: 1.5/1000 live births                                                                 then prognosis for N development is excellent.
           Tx: Of brain injury & organ impairment.                                   METABOLISM - INBORN ERRORS OF …
           Comp: Neurodevelopmental delay, Cerebral Palsy.                              Rare
 Def      BIRTH INJURY: SCALP                                                            Phenylketonuria most common and is routinely screened in
           Eg. Forceps / Ventouse                                                         neonates.
 Def      BIRTH INJURY: FACIAL NERVE (Bell’s Palsy)                                      Caused by single gene mutations
 Def      BIRTH INJURY: BRACHIAL PLEXUS (Erb’s Palsy)                                             Inherited in autosomal recessive manor.
           Mainly cervical roots 5+6                                                             Therefore more common with consanguinity.
           Prog: Good functional return in >80%, but some residual                      Present in variety of ways: Neonatal seizures, Hypoglycaemia,
              neurological S&S in 80%.                                                     Vomiting, Coma
                                                                                         Signs: Coarse features, Microencephaly, FTT, hepato-
 TO ADD: PRETERM (From Obs Gyn Lectures + Self Directed Slide Show)                        splenomegaly
 Def      PERIVENTRICULAR HAEMORRHAGE (Gen Matrix Hem)                                NEURODEGENERATIVE DISORDERS
           Cause: Assoc with- Prematurity, Chorioamnioitis, Breech                      Progressive deterioration of neurological function
             Delivery, RDS, PDA, Pneumothorax.                                           Caused heterogeneously: Biochemical defects, Chronic viral
           Prog: Not only is survival itself important but QOL.                           infections, Toxic substances.
 Def      PERIVENTRICULAR LEUKOMALACIA (Lit- White Softening)                            Signs: Coarse features, Fits, Intellectual deterioration,
           Prog: Very bad longterm                                                        Microencephaly
 Def      RETINOPATHY OF PREMATURITY                                                     Coarse of disease  inevitable neurological deterioration
           Path: Neurovascular + fibrous proliferation                               NEUROCUTANEOUS SYNDROME
           Cause: Prematurity, O2 exposure, unstable arterial sat levels                Characterised by neurological dysfunction and skin lesions
           Tx: Regular fundal screening, Laser / Cryotherapy for prog                   Caused heterogeneously
             disease.                                                                    Severe learning  in some and N in others
           Comp: If UnDx, UnTx, May  Retinal Detachment  Blind.                                Examples: Sturge-Weber syndrome,
                                                                                                     Neurofibromatosis, Tuberous sclerosis
 TO ADD: More from Self Directed Slide Show                                           ABUSE AND NEGLECT
 Def      CEPHALHAEMATOMA                                                                Delay often associated with FTT (failure to thrive)
           Injury assoc with linear fracture of parietal bone                           Child presents
           Neonatal Jaundice                                                                     Apathetic
 Def      SMOKING                                                                                 Evidence of physical neglect (Dirty clothing, Unkempt
           Path:  Premature delivery, Fetal growth restriction,  Risk of                          hair, Nappy rash)
               sudden death syndrome,  Risk of respiratory illness in                            Signs of Non Accidental injury
               infancy.                                                                  Children who require removal from the home often have
 Def      CLEFT LIP: Complete Unilateral                                                   irreversible learning and emotional difficulties.
           PP: Prev- 1:1000 births
           Cause: Assoc with- Maternal antiepileptic drug Tx.
           Tx: Laser removal in larger cases
           Prog: Norm resolve spontaneously
           Prog: Survival: 80% of all  surgery. 20-30% of all cases Dx.
           Signifies: Respiratory distress
           Causes: Surfactant deficiency disease (HMD, RDS), Meconium
               aspiration syndrome, Pneumonia.
           Assoc with chordee, urethral stenosis.
           Assoc: ♂ Sex, FHx, Multiple birth, breech presentation.
           Tx: Double Nappies, Splinting in abduction.

 Def      Global DD refers to a delay in all milestone, particularly
            Language, Fine motor, Social skills
          Worrying as usually indicates significant learning disability-
            mental retardation.

WILL WESTON:                                                                                                                           Page 3 of 15
                                                                                                  EEG may be grossly disorganized (hypsarrhythmia).
 PAEDIATRICS: MAIN                                                                Mx              Vigabatrin
                                                                                  Prog            Prognosis is poor and worse if there early onset of spasms
 PAEDIATRIC POINTS TO REMEMBER:                                                                   20% Mortality, 30-50% Cognitive Impairment, 85% CP.
   Remember to correct for prematurity in 1 2 years!
   Examination Setting: Toddlers on mother's lap, Preschool whilst playing,      URINARY TRACT INFECTION
      Teenagers concerned over privacy.                                           Def       Multiplication of bacteria somewhere in Urinary tract.
   Start with easy exams and end with worst / potentially distressing  leave    PP        5% Girls  UTI. F>M (Except Neonatal…M>F)
      ENT exam until end.                                                                   Risk: Abnormalities of Plumbing  Stasis  Bacterial
   ENT Exam: Throat- Face child, mother with one hand on child’s forehead                      Proliferation: Vesicalureteric Reflux, Congenital Abnormalities,
      & other arm across arms. Ear- Turn child 90o from throat position.                        Bladder dysfunction.
   Liver edge is 1-2cm below costal margin in infants / young children           Cause     E Coli (fimbriae on surface  adhere to epithelial cells…Not
   Spleen edge is 1-2cm below costal margin in infants.                                        washed out as easily), Salmonella
   Heart disease is > common in children with other congenital abnormalities     Path      Bowel Flora  Lower end of urethra
      (DS, Turner's).                                                             S&S    Sometimes completely asymtomatic
   Third HS in mitral area is normal in young children.
   Splitting of second heart sound is usually heard and is normal.
                                                                                             Non specific S&S…
   Abdomen is protuberant in normal toddlers / young children.
                                                                                            Poor feeding, Vomiting, Irritability
   If young child with abdo pain, ask to palpate themselves first, then take
                                                                                            Sepsis (if infection beyond urinary tract)  Septicaemia /
      your turn (Gives confidence).
   Chest Shapes:
             Hyperexpansion (barrel - asthma, bronchiolitis),
                                                                                             May not be: Frequency, Dysuria, SP / IF tenderness…May
             Pectus excavatum (hollow),                                                        present more like gastroenteritis > Adult UTI
             Pectus carinatum (pigeon),                                                    Fever, Irritability, Diarrhoea, Vomiting
             Harrison's sulcus (from diaphragmatic tug- e.g. bad asthma),               SCHOOL
             Asymmetry of movement                                                         More similar to Adults
 Normal Respiratory Rates:                  Normal Pulse Rates:                             Frequency, Dysuria, Supra pubic / IF tenderness,  Bladder
   Neonate (30-50; Tachy >60),                < 1 Year (95-140),                              Control
   Infant (20-30; T>50),                      2-5 Years (80-120),                          Dysuria: may result from vulval / foreskin inflammation so
   Young Child (20-30; T>40),                 5-12 Years (60-100),                            needs distinguishing from genuine UTI)
   Old Chid (15-20; T>30).                    >12 Years (60-100).               DDx       Neonate: Sepsis
                                                                                            Preschool: Gastroenteritis, Otitis, Meningitis / Pneumonia
 MENINGITIS                                             (See Infections at End)             School: ♀: Vulval irritation / infection, ♂: Balanitis
                                                                                  Inv /  Urine        Mic + Cult
 ASTHMA                                                      (See Respiratory)    Dx     Dipstick     Blood, Protein, Nitrite (specifically a sign of bact infection)
                                                                                          Make sure clean sample (> Clean taken w Supra Pubic Urine Asp)
 DIABETES                                                     (See Metabolism)            White Cells will be present in vulval vaginitis.
                                                                                  Mx     NEONATAL               Broad Spectrum ABx
 EPILEPSY                                                     (See Neurology)            PRESCHOOL
                                                                                         SCHOOL                 < Urgency.
 FEBRILE CONVULSION                                                                      Antibiotics:           Trimethoprim, 2nd Gen Cephalosporin
 Def       Benign, generalised convulsions occurring in otherwise N                     Follow Up              Check For Comp: US, IV Urography.
               children who are febrile secondary to an extracranial infection.   Prog      Urinary tract abnormality: 1/3 UTI Children Eg. Vesicalureteric
 PP        ~3% children have at least one.                                                 Renal Scarring:
 Cause     Infection  Pyrexia  Very High Pyrexia  Irritable brain                                 Younger child = > Risk. > 5 =  Risk.
               Convulsion                                                                              Common consequence of reflux and infection. If
 Path      Herpesvirus-6 responsible for 1/3 in children up to 2 years old.                              Reflux  Proph ABx for 2 yrs.
 S&S      Dx if following occur together:                                                              May  Renal insufficiency and HT.
           Tonic/Clonic symmetrical generalised seizure with no focal
               features.                                                          ANAEMIA: IRON DEFICIENT
           Occurring as temperature rises rapidly in febrile illness.            Def       ANAEMIA: Hb level <N range for child of that age & gender.
           N developing child b/w 6/12 and 5 yrs.                                          From 1 Year  Puberty = < 11g /dl.
           No signs of CNS infection / PMHx of epilepsy.                                   IRON DEFICIENT ANAEMIA (IDA): A microcytic hypochromic
           < 3 Seizures, each lasting < 5 mins.                                                anaemia.
 DDx     Meningoencephalitis, CNS lesion, trauma,  glucose,  Ca,  Mg.          PP        IDA: Beyond Neonatal Period, > common (18% of white, 33%
 Inv /     If fully recovered after seizure, then no need for further Inv.                     immigrant children in deprived areas).
 Dx        FBC, MSU, CXR, ENT swab, LP (always if aged <1 yr)                    Path      Fetus absorbs iron from mother across placenta. Term infant
 Mx        CONVULSION: Lie on side; Remover dangers (fires, hot                                has adequate reserves for 1st 4/12 of age, but subsequent
               drinks); Do NOT hold child down.                                                 months of 1st year is particularly susceptible to  IDA
           Tepid sponging if hot; Cool drinks. Paracetamol syrup (Calpol)                      (Especially since infant RDA is same as that of man [8mg/day],
           Never leave in bath of cool water or place cool fan.                                but with smaller dietary volume)
           If Repeated convulsions: Diazepam PR                                  Risk      Cow’s Milk: 50% of Fe is absorbed from breast milk vs 10%
 Prog      30 - 50% Risk of recurrent febrile convulsions                        IDA           from unmodified Cow’s therefore unmodified Cow’s milk is not
           10% Risk of recurrence within the first 24 hours                                    recommended until > 1 year of age.
           Risk of longterm epilepsy is about 6%                                           Excessive milk intake: as a toddler may  IDA (insufficient
                                                                                                space in diet for solid rich foods in iron).
 INFANTILE SPASM                                                                            Low Fruit / Veg Intake: Fe absorption from food is increased
 Def        Rare form of epilepsy seen only in young children. They                            when complimented with Vit C.
            May occur several hundred times per day and although may be                    Vegetarians at risk due to  Fe intake and  phosphate intake
                treated, mental deterioration and handicap results.                             (which inhibits iron intake)
 PP         Usually commence between 3 to 8 months of age.                                 High Tea Intake: Fe absorption from food is decreased when
 Cause      Idiopathic                                                                         complimented with Vit C.
            Tuberous sclerosis, birth hypoxia                                    Gen    BEFORE NEONATAL PERIOD: Haemorrhage, Twin-Twin transfusion
            Congenital infection, meningitis, encephalitis                       Anae   syndrome, Consequence of placental abruption, ABO / Other blood
            Phenylketonuria, severe hypoglycaemia                                mia    incompatibilities.
 S&S     Seizures every 5-10 seconds and last only a few seconds.                 Cause  BEYOND NEONATAL PERIOD
            Seizures usually very stereotyped, and may show following:           :      Deficiency of           Nutritional iron deficiency (Esp preterm due
                       Commonly generalised resulting in flexion                        Haemopoetic                 to low iron stores, as well as > increase in
                       Occasionally extensor, or mixed                                  factors                     blood volume accompanying growth
                       Usually symmetrical                                                                          compared with full term infants.)
                       Occasionally absences                                                                    Folate (or v rarely – B12) deficiency
         May note following sequence in a stereotypical spasm:                                                   Excess tea ingestion
            With body held rigid, both arms held with elbows extended and               Disorder of Hb          Haemoglobinopathies- Sickle Cell,
                shoulders abducted to 90 degrees                                         synthesis                   Thalassaemia
            With elbows still extended, arms bought into midline                        Haemolysis              Red cell enzyme deficiency- G6PD,
            As seizure ends infant usually cries as regain N consciousness.                                         pyruvate kinase
         In longer term often cognitive impairment and cerebral palsy.                                           Red cell membrane defects- spherocytosis
 DDx                                                                                                            Autoimmune haemolytic anaemia
 Inv /      Hx and MRI will determine cause for infantile spasms in 90%                 Blood Loss              GI: GORD, Meckel’s diverticulum, Cow’s
 Dx         MRI: Commonly a static abnormality of the cortex apparent.                  (Uncommon)                  milk protein intolerance.

WILL WESTON:                                                                                                                                     Page 4 of 15
                                  Menstruation in adolescent females.             VOMITING / POSSETING / REGURGITATION
                                  Epitaxis                                        Def       Non forceful return of milk
                                  Iatrogenic- excessive venesection in infants.                        POSSETING: Small amounts which accompany small
                                  Bleeding disorders- haemophilia, von                                    amounts of swallowed air (wind). Occurs in nearly all
                                   Willebrand’s disease (epitaxis,                                         babies.
                                   menorrhagia).                                                        REGURGITATION: Larger, more frequent losses.
                                  Hookworm in some countries.                                             Often indicates presence of gastro-oesophageal
          Bone marrow             Aplastic anaemia- Fanconi’s                                             reflux.
          failure                 Acquired red cell aplasia- Diamond-                       Forceful ejection of stomach contents:
                                   Blackfan                                                             VOMITING: Often benign, but potentially serious
                                  Transient erythroblastopenia of childhood                               disorders need to be excluded if prolonged / bilious /
                                   (TEC)                                                                   systemic unwell.
          Infection /             Malabsorption syndromes (eg. Coeliac            DDx       NON BILIOUS: Acute gastroenteritis, Toxins, Infections,
          Inflammation /           Disease)                                                      Increased ICP, Obstructive uropathy, Adrenal insufficiency,
          Chronic illness         Chronic inflammatory disorders (eg.                           Food sensitivities, Inborn errors of metabolism, Labyrinthitis,
                                   Juvenile idiopathic arthritis)                                Behavioural disorders, Obstruction proximal to ampulla of vater.
                                  Organ failure (eg. Renal failure)                         BILIOUS: Intestinal Atresia, Stenosis, Malrotation
                                  Chronic Infection                               S&S    Accompanying presentation may include:
                                  Malignant disease                                         Nausea
                                  Lead poisoning.                                           Headache
 Path                                                                                        Urinary urgency / frequency
 S&S         Asymptomatic until anaemia is marked.                                          Abdominal pain
             Pallor: Mucosal surfaces of tongue, mouth, conjunctivae,                       Diarrhoea
              palmar skin creases.                                                           Fever
            Fatigue, weakness, malaise                                                      Ataxia
            Pica: Inappropriate eating of non food materials (soil, chalk,        Dx     Questions:
              gravel, foam, rubber).                                                         Obstruction: > Proximal  >prominent, > bile stained (unless
            Pagophagia: compulsive ice craving                                                  proximal to ampulla of vater)
            Neurologic / Intellectual dysfunction                                           Bile stained: Intestinal obstruction must be excluded
            Severe iron deficiency:                                                         Blood stained: suggests Oesophagitis / Peptic ulceration / Oral
                     Irritability                                                               or Nasal bleeding
                     Tachycardia, Cardiac murmurs                                           Projectile Vomiting (in 1st few yrs of life): Is it pyloric stenosis?
                     Mouth soreness- cheilosis                                              Are there S&S to suggest UTI, CNS / GI infection?
                     Difficulty swallowing                                                  Dehydration?
            Koilonychia (spooning / curving of nails)                                       Abdominal distension: lower intestinal obstruction?
 DDx        Other Microcytic, hypochromic anaemias: Lead poisoning,                         Detailed Hx and physical
              Thalassaemia, Anaemia of chronic disease.                                                 Colour of emesis
            Haemoglobinopathies: Eg. Sickle Cell Anaemia                                               Time of day
 Inv /    FBC    Depleted Iron              ↓ Serum Ferratin                                            Bowel movements
 Dx              Stores:                                                                                Abdominal exam
                 Iron Deficiency            As above + ↓ Transferrin saturation,                        Neurological exam
                 without Anaemia:           ↓ Erythrocyte protoprophyrin, ↓ MCV              Further diagnostic tests may be necessary depending on exam
                 Iron Deficiency with       As above + ↓ Hb                                      (eg. Head CT, MRI, Abdominal US, Contrast studies).
                 Anaemia:                                                          Tx        Correct Electrolytes and dehydration.
 Mx         Asymptomatic: Dietary advice + Fe supplements for 3/12 to not                   Medication acting on CTZ may be useful (phenothiazines,
              only  Hb, but replenish Fe stores (Although Fe sulphate is                        haloperidol).
              DOC in adults, has bad taste,  Fe chelates [Sytron, Nyferex]                  Treat cause.
              are preferable).                                                     Prog      Variable depending on aetiology.
            Severe Anaemia: See within 1st 2/52 of Tx to ensure a
                                                                                   CAUSES OF REGURGITATION / VOMITING
              response. Blood transfusion is never necessary with IDA.
                                                                                   Med       Gastroenteritis
 Prog       Behavioural / Intellectual difficulties (Fe is assoc with brain
                                                                                             Gastro oesophageal reflux
                                                                                             Feeding problems
             Be sure to properly Dx IDA rather than haemoglobinopathies                    Infection:
              etc, due to possibility of creating iron overload state.
                                                                                                        Respiratory tract / otitis media
                                                                                                        Urinary tract
                                                                                                        Meningitis
 Def     
                                                                                             Dietary protein intolerance
 PP       Infective D & V:  Morbidity in developing countries ( Mort).                    Peptic ulceration
          Gastroenteritis: Mortality: 5M < 5 / year (Due to Dehydration)                    H Pylori infection
 Cause   VIRUSES:                                                                            Migraine
          Developed: 60% of all Gastroenteritis: Rotavirus (Esp winter).          Surg     Intestinal obstruction:
          Others: Adenovirus, Calicivirus, Corona, Astrovirus.                              Pyloric stenosis
         BACTERIAL: Bacterial causes < common.                                               Duodenal stenosis / Atresia
          Campylobacter Jejuni:                                                             Intusucception
                     Pain- Severe Abdominal                                                 Malrotation
          Shigella / Salmonella:                                                            Volvulus
                     Dysenteric, PR Blood & Pus, Pain, Tenesmus,                            Duplication
                       (Shigella…Fever  Febrile Convulsions)                                Hirschsprung’s disease
          Cholera / Enterotoxigenic E Coli:                                                 Foreign body (bezoar)
                     Diarrhoea                                                    Rare      Raised ICP
 Path                                                                                        Inborn errors of metabolism
 S&S      See Cause…                                                                        Congenital adrenal hyperplasia
 DDx                                                                                         Coeliac disease
 Inv /                                                                                      Renal disease
 Dx                                                                                         Cyclical vomiting
 Mx       Tx Dehydration: See Dehydration                                                   Bulimia / Anorexia nervosa.
          No place for medications specifically related to Vomiting &             PYLORIC STENOSIS
              Diarrhoea due to: Bowel stasis, S/E, Cost.                           Def       Hypertrophy of pylorus  gastric outlet obstruction.
          ABx indication for specific bacteria.                                   PP        Presents b/w 2-7/52 irrespective of gestational age.
 Prog  DEHYDRATION (Sunken fontanelle, Sunken / Tearless eyes,                              M>F (4:1) especially 1st borns.
       GCS, Dry muc membranes,  Cap Refill,  RR,  HR,  BP, Perih                         May be FHx especially on maternal side.
       vasoconstriction,  Tissue turgor, Oliguria). Reasons for > risk…           Cause    
          > Surface area: Weight ratio  > Water loss.                            Path
          Inability to gain access to fluid when thirst.                          S&S       PROJECTILE VOMITING (not bile stained), increasing with
          > Basal Fluid requirements                                                            frequency & severity with time.
          Immature Renal Reabsorption process.                                              CONSTANT HUNGER: even after vomiting; only when
       POST GATROENTRERITIS SYNDOME: Intro of N diet may                                        markedly dehydrated do they refuse to feed.
       Recurrence of watery diarrhoea due to Lactose Intolerance (Dx by                      HYPOCHLORAEMIC ALKALOSIS with a low plasma
       Test for Non absorbed sugar in stool. Tx: Oral Rehydration for 24 hrs.                    potassium (from vomiting stomach contents).
                                                                                             WEIGHT LOSS / Poor weight gain (if presentation is delayed)

WILL WESTON:                                                                                                                                   Page 5 of 15
 DDx       See Causes                                                                             portion that should have continued from point of blind pouch.
 Inv /     Test Feed            Unless fluid resuscitation is needed                       EMBRYOLOGY
 Dx        Milk Feed            will calm a hungry infant  exam                             Oesophagus & trachea are formed by septal division of caudal
           Inspection           Gastric peristalsis may be seen as a wave                        part of foregut by 7/40.
                                 moving from L  R across the abdomen                         Atresia results from a posterior deviation of septum.
        Palpation             Pyloric mass (‘olive’) usually palpable in RUQ      S&S        CHILD UNABLE TO SWALLOW SALIVA
        NG tube               If stomach is overdistended with air, it needs to              BUBBLING fluid from the mouth, who chokes on the first feed.
                                 be emptied by NG tube to allow palpation.                        Bubbling occurs within 20 minutes of birth.
        US                    Increasingly used to confirm Dx                                ASPIRATION PNEUMONIA ( incidence), either from
        Barium meal           Only performed when Dx in doubt                                    oesophageal pouch into trachea, (or in presence of a
 Mx        Correct fluid and electrolyte disturbance with IV fluids.                             tracheoesophageal fistula via the fistula into the trachea).
           Correct Cl- and K+ deficits.                                                      ASSOCIATED CONDITIONS:
           Pyloromectomy: muscle but not mucosa of pylorus is cut.                                       Tetralogy of Fallot and other cardiac abnormalities
                (Incision is made through umbilicus / laparoscopy)                                        Ano-rectal agenesis
 Prog   Postoperatively: Child can be fed the next day and is usually                                     Other intestinal atresias
        discharged within 2-3 days of surgery.                                                            Skeletal anomalies
 GASTRO OESOPHAGEAL REFLUX IN CHILDHOOD                                                                   Renal anomalies
 Def    Physiological, asymptomatic reflux may occur in child / adult, but is      DDx      Cerebral Birth Injury, Intestinal Obstruction - Here, Vomiting Rather
        infrequent.                                                                         Than Choking Is The Presenting Feature, Hypoglycaemia, Subdural
        Normal individuals: Acidity from reflux of stomach contents for < 4%                Haematoma, Systemic Infection, Urinary Tract Infection
        of 24 hrs period. 40% healthy individuals regurg once per day without      Inv /    Catheter           To confirm a case of oesophageal atresia, soft
        pathologic sequelae.                                                       Dx                          rubber catheter is passed into oesophagus through
 PP     Common in 1st Year of life, peaking at 4/12. By 12/12, nearly all                                      mouth. Cannot be passed > 10-12cm from gums in
        symptomatic reflux resolves spontaneously (due to maturation of                                        cases of atresia.
        LOS, assumption of upright posture, > solid diet).                                  CXR, AXR           With a tracheo-oesophageal fistula, air is noted in
 Cause  MILD TO MODERATE: Functional immaturity of LOS  episodes of                                           the stomach and small intestine. Not advisable to
        inappropriate relaxation. Also may be caused by short oesophagus.                                      use contrast media because of risk of aspiration
        MODERATE TO SEVERE:                                                                                    should there be a fistula.
           Cerebral Palsy: Surgery may transform QOL.                                      CXR                May reveal cardiac anomalies
           Bronchopulmonary Dysplasia in newborn (Chronic Lung                             Echo               Surgeon needs to know that aorta is on correct side
                Disease of newborn)                                                Mx         Nurse with tube providing continuous suction drainage of
           Post Surgical complication for oesophageal atresia /                                  oesophageal pouch.
                diaphragmatic hernia.                                                         Medical Tx: Rehydration & correction of any electrolyte
 Path                                                                                             imbalance or hypoglycaemia.
 S&S      GORD:                                                                               Medical Tx: If aspiration pneumonia  Tx with antibiotics.
           Regurgitation                                                                     Surgical correction of abnormality is made by an end-to-end
           Vomiting                                                                              anastomosis through a right thoracotomy in bed of fifth rib. If
           Irritability                                                                          fistula present, divided at its entrance into the trachea and
           Weight loss / poor weight gain                                                        sewn shut. Proximal pouch then mobilized and end-to-end
           Recurrent respiratory disease                                                         anastomosis established.
           Bradycardia                                                            Prog       Early Dx &  intervention, as few as 10% of patients perish.
           Apnoea
           Sandifer Syndrome: lateral head tilt and back arching                  TRACHEOESOPHAGEAL FISTULA
                secondary to oesophageal irritation.                               Def      See Path
 DDx    GORD: Metabolic disease, Structural obstruction, Drugs / toxins,           PP
        Seizures, Increased ICP, Pyloric stenosis, Allergy, Dystonic reaction               See Oesophageal Atresia
        to medications.                                                            Path     Most common situation is with a blind end oesophagus with a
 Inv /  MILD & UNCOMPLICATED: Tx without further Inv.                                          fistula just proximal from distal oesophagus just proximal to the
 Dx     ATYPICAL / COMPLICATED: 24hr oesophageal monitoring. Contrast                          carina. Trachea is in communication with lower end of
        studies. Endoscopy + Bx if oesophagitis suspected.                                     oesophagus, ie portion that should have continued from point of
 Mx     CONSERVATIVE: Avoid smoke exposure, supine positions after                             the blind pouch.
        feeding.                                                                            Rare variant of tracheosophageal fistula involves commun-
        MILD - MOD: Thickening agents (Nestargel ,Carobel), Positioning at                     ication b/w intact oesophagus & trachea, the so-called H type.
        30o angle after feeds.                                                     S&S      FROTHY BABY – 2oto air flowing into the oesophagus.
        MOD - SEVERE: Drugs to enhance gastric emptying (Domperidone).                      ASPIRATION PNEUMONIA ( incidence), Caused by spill
        OESOPHAGITIS: H2 Antagonists (Ranitidine).                                             over of milk via the fistula.
        SURGERY (fundoplication- fundus of stomach wrapped round intra-                     ABDOMINAL DISTENSION may be present if there is
        abdominal oesophagus): Indicated for Failure to respond to Drugs,                      connection b/w oesophagus, trachea & stomach.
        Oesophageal stricture, Recurrent respiratory S&S (Esp aspiriation).        DDx
 Prog   GORD: 90% Resolve spontaneously within 1st 1-2 yrs of life.                Inv / Elsewhere              If oesophageal atresia suspected then
 Comp   Failure to thrive, Feeding problems, Oesophagitis (pain, bleeding, iron    Dx                             condition should be Inv appropriately.
        def), Pulmonary aspiration ( 'Bronchitis', Pneumonia), Peptic                   Contrast /             May be required to demonstrate H type
        stricture (assoc with oesophagitis), Dystonic movements of head &                endoscopy                fistula.
        neck (Sandifer's syndrome), Apnoea in preterm infants, Apparent Life       Mx       See Oesophageal Atresia
        Threatening Events (ALTEs) or Sudden Infant Death Syndrome                 Prog
        (SIRS) [controversial].
                                                                                   DUODENAL ATRESIA
 INTESTINAL ATRESIA                                                                Def      May be due to a complete absence of duodenum, a fibrous
 Def: Absence or closure of a natural passage or channel of the body                            band, a diaphragm, or partial diaphragm.
 Atresia may occur at any point in the gastrointestinal tract, including:          PP       Most commonly occurs at point of junction of fore- and midgut
    The oesophagus                                                                              bile-stained vomiting
    The duodenum                                                                  Cause   
    More rarely atresias of the small intestine and colon                         Path    EMBRYOLOGY
                                                                                            Duodenum filled with epithelial cells at ~ 5/40. Then undergoes
 OESOPHAGEAL ATRESIA                                                                            vacuolization & recanalisation by 8/40. Failure of this  atresia.
 Def     Oesophagus develops as derivative of foregut, from floor of              S&S      VOMIT + BILE: With congenital duodenal atresia, common bile
           where larynx & trachea separated by laryngo-tracheal groove.                         duct usually enters proximal to obstruction.
         It is often associated with a tracheo-oesophageal fistula.                        STOMACH DISTENSION: Profuse vomiting occurs from birth
 PP      Incidence of ~ 1:2500 live births.                                                    and the stomach may be visibly distended.
         90%: Oesophageal atresia with tracheo-oesophageal fistula                         ASSOCIATIONS: DS- association is common enough to
         5%: Oesophageal atresia without fistula                                               indicate chromosome check on all babies with this condition.
         5%: Tracheo-oesophageal fistula without atresia                          DDx      Oesophageal Atresia: Baby presents with choking > vomiting
 Cause   Oesophageal atresia has a high incidence in mothers with                          Pyloric Stenosis: bile absent from the vomitus; generally
           polyhydramnios - as high as 85% - and should always be                               palpable pyloric 'tumour'; onset is later (3-4 weeks) than
           excluded in the baby of mothers with this condition.                                 duodenal atresia (at birth)
 Path  ANATOMY                                                                              Congenital Intestinal Obstruction: Abdominal distension; AXR
         Most common situation is with a blind end oesophagus with a                           reveals features of obstruction.
           fistula just proximal from distal oesophagus just proximal to the             Plain AXR is diagnostic and shows distension of stomach and
           carina.                                                                       proximal duodenum with absence of gas in rest of bowel.
         Trachea is in communication with lower end of oesophagus, ie             Inv / U&E's, Blood          Electrolyte and acid-base status measures,

WILL WESTON:                                                                                                                                   Page 6 of 15
 Dx        Gases                    with subsequent correction of abnormalities
           AXR                  'Double Bubble' sign of duodenal obstruction        CYSTIC FIBROSIS
           Contrast             Barium study may show stenosis                      Def      Widespread dysfunction of the exocrine glands characterised by signs
 Mx          Tx involves  correction via a duodenojejunostomy with                          of chronic pulmonary disease, pancreatic deficiency, abnormally 
                 resection of the atretic section.                                            levels of electrolytes in sweat & occasionally by biliary cirrhosis
 Prog                                                                                PP          1:2000 live births
                                                                                                 5 % of whites of Euro descent are heterozygous carriers.
 ANAL ATRESIA                                                                        Cause: CFTR: CF Transmembrane Conductance Regulator on chromosome 7.
 Def       Congenital cause of intestinal obstruction, bladder & sexual
               dysfunction.                                                                             CFTR gene mutation                    Gene Therapy
           Describes spectrum of abnormalities affecting anorectal area.                                                                      (potential)
            Anus of newborn baby must be always checked for
               presence patency in the neonatal examination.                                                                                 TREATMENT
        TYPES OF ABNORMALITY: Pena suggested following classification:                                     Defective CFTR
        IN MALES:
           Perineal, Cutaneous Fistula
           Recto-Urethral Fistula:
                                                                                                        Defective epithelial ion                 Amiloride,
           Bulbar Urethra
                                                                                                   transport ( Cl secretion,  Na               nucleotide
           Prostatic Urethra
                                                                                                              absorbtion)                    triphosphatases
           Rectovesical Fistula
           Imperforate Anus Without Fistula
           Rectal Atresia
                                                                                                                                            Postural Drainage,
        IN FEMALES:                                                                                  Mucous viscosity and stasis            Inhaled DNase,
           Perineal Cutaneous Fistula
                                                                                                                                             Aerosoled saline
           Vestibular Fistula
           Persistent Cloaca                                                           Cell
           Imperforate Anus Without Fistula                                          Damage,             Chronic Infections                   Antibiotics,
           Rectal Atresia                                                             DNA                                                    Immunisation
 PP        Affects 1 in 4000 new babies.
           ♂: Most frequent abnormality is imperforate anus with recto-
               urethral fistula, followed by perineal & rectovesical forms.                         Inflammation & Bronchiectasis                Steroids
           ♀: Rectovestibular fistula is most common followed by perineal
               fistula with persistent cloaca.
           5% Cases: There is no fistula.                                                             Impaired Lung Function                Bronchodilators
           Risk of congenital malformations, for example, oesophageal                                Progressive Respiratory F
               atresia is higher than average.
           Risk of couple with one affected child having a 2nd child with
               imperforate anus is ~ 1%.                                             S&S      NEONATE
 Cause                                                                                          Failure to thrive, Meconium ileus, Rectal prolapse
 Path      EMBRYOLOGY                                                                        CHILDREN AND YOUNG ADULTS
           In normal embryology, urorectal septum grows downwards                               Respiratory
               towards cloacal membrane b/w hindgut & allantois. Stage of                                  Cough, Wheeze, Recurrent infections, Bronchiectasis,
               failure of this growth dictates type of anomoly which develops.                               Pneumothorax, Haemoptysis, Respiratory failure, Cor
           Anal membrane is supposed to break down at 8/40; failure of                                      pulmonale
               this  classical imperforate anus.                                                Gastro Intesinal
 S&S       INTESTINAL OBSTRUCTION: Principal clinical feature                                             Pancreatic insufficiency- Dm, Steatorrhoea
               manifested often as failure to pass meconium.                                               Distal intestinal obstruction- Meconium ileus
           In some cases imperforate anus is found when a thermometer                                       equivalent
               cannot be passed or as a routine baby check finding.                                        Gallstones & Cirrhosis due to  exocrine function
 DDx                                                                                             Other
 Inv /  Invertogram             Used to investigate the extent of defect in                               Male infertility- Due to underdeveloped vas deferens
 Dx                                 anal / rectal atresia.                                                 Osteoporosis, Arthritis, Vasculitis, Nasal polyps,
                                Anus marked with a radiopaque marker, &                                     Sinusitis, Hypertrophic pulmonary osteoarthropathy -
                                    baby inverted. Lateral radiograph is taken.                              HPOA
                                Air in rectum will rise to highest point, giving                Cyanosis
                                    indication of extent of the atresia.                         Finger clubbing
 Mx     POST OPERATIVE MX                                                                        Bilateral coarse crackles
           In period after surgery for imperforate anus, anal dilation is a         DDx         Resp: Asthma, Pneumonia, Bronchiectasis
               vital part of Tx. Begins 2/52 after operation, requiring carefully-               GI: Chronic Diarrhoea, Pancreatic insufficiency, Food allergy,
               graded use of dilators by baby's parents for several months.                          Gastroenteritis
               (Non-dilated anus heals closed & child suffers an intractable         Inv /    General             Symptoms above
               stricture).                                                           Dx       Sweat Test          Cl
           Faecal incontinence is managed by enemas and medication to                        PFTs                Obstructive-  FVC
               slow colonic transit time. A  in diet may help. The bowel Mx
                                                                                              CXR                 Hyperinflation, bronchiectasis, upper > lower
               program should be completed before the child starts schooling.
                                                                                                                     lobe involvement
 Prog                                                                                         Sputum              Culture and M
                                                                                              LFTs               
                                                                                              ABGs                Hypoxemia, Resp alkalosis
 Def    Important Sx condition, frequently mentioned but not frequently seen.
                                                                                              Stools               fat + faecal elastase
 PP        > Commonly seen in 6-9-month-old but can occur at any age.                        Vitamins            ADEK
 Cause                                                                                       US                  Abdo- Fatty liver, pancreatitis
 Path   Piece of bowel 'telescopes' into itself. Peristalsis has taken 1 piece of             CONTROL INFECTION
        bowel into next as if digesting itself. Most commonly distal ileum into
                                                                                                  Antibiotics
        caecum. Thought 'telescope' might start as enlarged Peyer's patch.
                                                                                              PROMOTE MUCOUS CLEARANCE
 S&S       PAIN: Colicky abdo (often seen as crying & drawing up legs).
                                                                                                  Physio- tipping and tapping
           VOMITING (might be bile stained).
                                                                                                  DNAase
           MASS: Sausage shaped abdominal.
                                                                                              OTHER THERAPY
           PR BLOOD: Classically, red-current jelly stools;
                                                                                                  Bronchodilators
 DDx    Gastroenteritis, other causes of intestinal obstruction, constipation                     Steroids
        Haemolytic uraemic syndrome.
                                                                                                  Lung Transplant
 Inv /  Exam                  Sausage shaped mass in RUQ.                                        Gene therapy
 Dx                           Child might be shocked.                                         NUTRITION
                              Rectal examination is necessary.
                                                                                                 Pancreatic enzyme replacement
        AXR                   Swiss-Roll Appearance                                             Fat Soluble vitamins
        Air enema             (Barium enema, which may reveal stack of              Prog     90% children now survive into teens
                                  coins sign. Barium enema is also a Tx).                     Median survival is 40 yrs for those born after 1990
 Mx        First: Make diagnosis! (And resuscitate)
           Early cases can be reduced by the radiologist at enema.                  DEVELOPMENTAL
           After 24 hrs or if serious S&S, surgery is necessary and any
              necrotic bowel is removed.
                                                                                     PRETERM INFANT
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 Def                                                                                 Inv /                             
 PP                                                                                  Dx                                
 Cause                                                                               Mx
 Path                                                                                 Prog
 S&S         
                                                                                     CEREBRAL PALSY
 DDx                                                                                  Def   Evolving disorder of posture & movement due to a non-progressive
 Inv /                                                                                     lesion of developing brain… Lesion is one which is non-progressive,
 Dx                                                                                        but because brain is developing the clinical picture evolves over time.
 Mx                                                                                   PP       1 / 1000 live births (> in lower SE Groups)
 Prog                                                                                 Cause    Most causes assoc with  likelihood in preterm / small for
                                                                                                   dates infants. Risk 10x for < 1.5 kg at birth / Preterm delivery.
                                                                                               Cause frequently not known, but possible aetiologies:
                                                                                               ANTENATAL               APH, XR, OH, TORCH, Rh Disease
 Def     A description, not a Dx: Describes suboptimal weight gain / growth in                         ToxoP, Others (Syphillis, Gonorrhoea, Varicella), Rubella, CMV, Herpes, Hepatitis, HIV]
         infants & toddlers.                                                                         INTRAPARTUM                Trauma, Distress,  Glucose,  Bilirubin
         MILD:Falls across 2 centile lines; SEVERE:Falls across 3 centile lines                      POSTNATAL.                 Interventricular Haemorrhage, Meningitis,
 PP         B/w 6/52 - 1Year: 5% children cross 2 lines, 1% cross 3 lines.                                                      Encephalitis, Cerebral Vein Thrombosis.
            5-10% children with FTT are on child protection register /               Path
                subjected to abuse / neglect.                                         S&S       Presentation depends on age of child:
 Cause   NON ORGANIC: Under-nutrition (final common pathway)…                                     After birth: Hx of predisposing incident e.g. congenital infection.
            FEEDING PROBLEMS: Insufficient breast milk, Poor tech.                               Very young: Abnormal tone / posture.
            MATERNAL STRESS: Inadequate food consumed, Tense /                                   Developmental milestones delayed. Feeding difficulties.
                Poorly feeling child, Intolerance of N feeding behaviours                        Convulsions.
                early cessation of meals, Social exclusion, Financial difficulties.             SPASTIC (70%)
            LACK OF STIMULATION & UNDER-NUTRITION: Infant /                                       Tone,  Reflexes ( + Extensor plantars).
                Toddler not demanding food.                                             C         Spastic CP classified as hemiplegia, diplegia, or quadriplegia
            MUNCHAUSEN’S SYNDROME BY PROXY: Deliberate                                 L            depending on distribution of limbs affected; this can also
                underfeeding to generate failure to thrive.                             A            depend on causative mechanism.
            OTHERS: Parental depression, Eating disorder, Poor                         S       ATAXIC (10%)
                understanding of baby’s need. Poor housing, Poverty,                    S          Tone / Balance / Motor skills
                Inadequate social support, Lack of extended family.                     I       DYSKINETIC (10%)
         ORGANIC (<5%): [underlined = > common]                                         F         Abnormal involuntary movements: May be athetoid (writhing),
            INABILITY TO FEED: Mechanic (cleft palate), Lack of                        Y            choreoid (jerking) or dystonic (sustained, postural).
                coordination (cerebral palsy)
                                                                                                   Tone / Motor skills
            POOR RETENTION OF FOOD: Vomiting, GORD
                                                                                                MIXED (10%): Components of more than one of the type.
            ILLNESS INDUCED ANOREXIA: CF, Renal failure, Congenital
                heart disease, Renal tubular disorders.
            IMPAIRED NUTRIENT ABSORPTION: Coeliac disease, CF,                       Inv /     E     Overview of patient and gross movement
                Cow’s milk protein intolerance.                                       Dx        X     Speech, language and hearing
            INCREASED ENERGY REQUIREMENTS: CF, Malignancy.                                     A     Vision and fine movements
            METABOLIC: Hypothyroidism, Congenital adrenal hyperplasia,                         M     Posture and social interaction.
                Amino acid & Organic acid disorders.                                                  Neuro: Tone, Power, Coordination, Sensation, Reflexes.
            MISCELLANEOUS: Chromosomal disorders, Syndromes,                         Assoc     MENTAL HANDICAP: 60% have IQ of < 70.  Many with severe CP
                Congenital infection                                                  Condit    may have N intelligence, esp in Dyskinetic CP.
 Path       Daily nutritional needs are highest during early life                              EPILEPSY: 60% of cases.
 S&S                                                                                           VISUAL IMPAIRMENT: Occurs in ~ 20% due to errors of refraction,
 DDx                                                                                            diffuse amblyopia or optic atrophy.
 Inv /   Growth Centile Chart.                1. Weight  2. Height  3. Head C                 HEARING LOSS (Esp Dyskinetic CP): About 20% have a degree of
 Dx                                           (In terms of time and extend of                   hearing loss, usually sensorineural.
         (See Charts in W- Post Birth)        reduction)                                        SPEECH DISORDERS: High incidence due to problems of
         FBC                                  Anaemia, Infection, Inflammation,                 incoordination of tongue, palate & lip muscles, as well as result of
                                              Immune def.                                       hearing losses or perceptual defects.
         U&Es + Plasma Creatinine             Renal F, Renal tubular acidosis,        Mx        Multi-Disciplinary
                                              Metabolic disorders.                    Prog         PHYSIOTHERAPY:  N &  Abnormal motor development.
         LFTs                                 Liver disease, Malabsorption,                            Prevent contractures.
                                              Metabolic disorders.                                 MENTAL HANDICAP & NEUROLOGICAL PROBLEMS:
         TFTs                                 Hypothyroidism                                       SPEECH THERAPY: Mx Drooling, speech or Sign Language.
         Acute Phase Reactant                 Inflammation (Crohn’s disease).                      OCCUPATIONAL: Dressing, Adaptation to home environment.
         Ferritin                             Iron Def Anaemia.
                                                                                      SPINA BIFIDA
         Immunoglobulins                      Immune Def.
                                                                                      PP         Most common NTD, occurring in 6 per 10,000 live births.
         Anti-endomysial & Anti-gliadin       Coeliac disease
                                                                                                 Dramatic  in incidence over last 20 years.
         Urine Microscopy, Culture,           UTI, Renal disease                      Risk       FHx and Past Obs Hx: 5% Risk to next child.
         Dipsticks                                                                               Teratogens e.g.s sodium valproate also been implicated.
         Stool Microscopy & Culture           Intestinal infection, Parasites.        Path    Incomplete closure of the vertebral canal, often associated with a
                                                                                              similar anomaly of the spinal cord
         Chromosomal Analysis in girls        Turner’s Syndrome
                                                                                      Class   SPINA BIFIDA OCCULTA / CLOSED:
         Chest X Ray & Sweat Test             CF
                                                                                                 Failure of fusion of vertebral spines (usually L5 and S1).
 Mx         NON ORGANIC:
                                                                                        2        Occurs in ~3% population.
            Health visitor: Home visits to assess eating behaviours &
                                                                                      Types      Rarely assoc with neurological abnormalities.
                provide support.
                                                                                                 A bony anomaly may be seen radiologically.
            Paediatric dietician: Assesses quantity & composition of food
                                                                                                 Those with additional lumbosacral cutaneous abnormality - a
                intake. Recommends strategies to increase E intake.
                                                                                                     tuft of hair, sinus or port wine stain - have a high incidence of
            Social services: May be appropriate.
                                                                                                     related underlying defects:
            ORGANIC: Treat as required.
                                                                                                             Diastomatomyelia (Requires Sx)
 Prog       Lack of appropriate Tx may  long term cognitive, growth, and
                                                                                                             Lipoma (Commonest Benign Tumour)
                behavioural sequelae
                                                                                                             Dermoid cyst (Requires removal but not urgent)
            NON ORGANIC: Lasting deficit is common and child may
                                                                                                 Neural abnormalities, though rare, may occur during growth
                remain underweight.
                                                                                                     because of spinal cord tethering. Disturbances of micturition or
                                                                                                     deformity in feet / gait require inv if SBO present.
                                                                                              SPINA BIFIDA CYSTICA / OPEN:
                                                                                                 Meningeal sac and contents protrude through defect with no
 CONGENITAL MALFORMATIONS                                                                            skin covering. Defects almost always obvious at birth. Usually
 Def                                                                                                there is midline sac that protrudes through a spinal defect.
 PP                                                                                             GOOD PROGNOSIS ONCE Sx: Spinal Meningocoele: Cystic
 Cause                                                                                              CSF filled cavity, lined with meninges but devoid of neural
 Path                                                                                                tissue, protruding from unfused spine
 S&S                                                                                            RANGE OF PROSNOSES: Meningomyelocoele describes
                                                                                                    exposure and unfolding of spinal cord on the back
 DDx                                                                                  S&S        WEAKNESS: flaccid weakness of muscle groups in lower

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                limbs, and anus may be patulous.                                  Inv /    Exam                 Recognition of phenotype characteristics
               SENSATION: Impaired                                               Dx       Screening            Maternal:  AFP,  Oestriol,  HCG
               INCONTINENCE: May be Urinary or bowel involvement                                               Prenatal US: Eg.  Nuchal fold
               OTHERS: May also be scoliosis and club feet.                                                    CVS / Amniocentesis
               : Precise neurological deficit is dependent on level of lesion            Karyotype            Analysis
               ASSOCIATIONS…at birth or due to unequal muscle tone:                       X-ray                For Dysplastic Hips
               Hip dislocation                                                   Mx         Early involvement in development support to optimize potential.
               Genu recurvatum (Backward bowing of knee)                                    Feeding / Nutritional consultants.
               Talipes equinovarus (Club Foot)                                              Growth and development expectations via DS specific charts.
               …Also  Incidence of congenital heart disease.                               Cardiology evaluation in newborn period.
 DDx                                                                                         Audiology & Opthalmology in newborn period & annually.
 Inv      Screen          AFP, US                                                           Meticulous dental care.
 Mx       PREVENTION: Folate periconceptionally up to 12/40 of pregnancy.                    Screening for alanto-axial instability by age 3.
          Multi-disciplinary approach:                                                       Pneumococcal, respiratory suncytial virus, & influenza vaccines
            Neurosurgery for hydrocephalus and closure of defect                                for children with chronic respiratory or cardiac disease.
            Urological surgery for urinary incontinence                                     Genetic counselling.
            Orthopaedic surgery for muscle imbalance and joint deformity         Comp       Early CHF & valvular disease due to  Pulmonary resistance.
            Physiotherapists may be heavily involved in long-term care                      Significant morbidity due to respiratory tract infections.
            Withholding treatment may be appropriate in most severe                         Thyroid disease: 40%
                 cases of spina bifida, based on poor prognostic factors.                    Leukaemia: 15x risk
 Comp       PARAPLEGIA                                                                      Increased risk of: Autism spectrum disorders, Dm, Alzheimer’s
            HYDROCEPHALIS (Due to abnormal architecture)                                        Disease, Celiac Sprue.
            UTI +/- Reflux / Hydronephrosis (Due to incontinence and                        Neurologic sequelae of atlanto-axial instability (spinal cord
                 incomplete voiding)                                                             compression) include torticollis, gait abnormalities,  strength,
            MENINGITIS: Esp in open defects or in assoc with shunts.                            impaired bowel / bladder function.
 Prog     Poor Prognostic Factors:                                                Prog       Highly dependant on degree of developmental intervention and
            Large defect involving > three vertebrae                                            medical care.
            High - cervical or thoracic - defect
            Associated hydrocephalus                                             TRISOMY 18 (EDWARD’S SYNDROME)
            Severe distal neurological impairment                                Def      
            Associated major congenital abnormalities                            PP
                                                                                            2 Most common Trisomy after DS.
                                                                                            1:8000 Live births. ♂>♀ (2:1)
 TRISOMY 21 (DOWN’S SYNDROME)                                                     Cause     Due to an extra copy of chromosome 18.
 Def         Extra chromosome 21.                                                          Associated with  maternal age (mean age at delivery 32.5)
 PP          Most common autosomal trisomy                                                 10% of cases are Mosaic.
             All racial / ethnic groups.                                         Path         Aneuploidy: Meiotic Non Dysjunction: Trisomy
             Slightly: ♂>♀                                                       S&S       Eighteen (Trisomy)
             Occurs in 1:650-1000 live births.                                             Digit overlapping flexion: Thumb across palm, overlapping
             Associated with  parental age (esp mother > 40)                                 middle and ring fingers.
 Cause    94%: DYSJUNCTION:                                                                 Wide head: Prominent occiput
             Uneven splitting. An error at Meiosis.                                        Absent intellect (mentally retarded)
             Pair of chromosomes 21 fail to separate  1 gamete has 2                      Rocker-bottom feet
                chromosomes & 1 gamete has 0.                                               Diseased heart and kidneys (malformations).
             Fertilisation of gamete with 2 chromosomes  Trisomy 21.                      Small lower jaw
             Incidence  with maternal age, but is independent of paternal                 Rigid baby and limb flexion: Hypertonia & CNS Defects (inc
                age (despite 5% being of paternal origin).                                     holoprosencephaly)
          5%: TRANSLOCATION:                                                                Small / Receding chin
             A chromosome 21 is transferred to 14 (or 15, 22, 21 > rarely).
          1%: MOSAICISM:                                                                   Plus …
             Uneven last division after fertilisation                                        Low set ears
 S&S…Mr CHILD HAS PROBLEM                                                                     Proptosis
   Congenital heart disease/ Cataracts                                                       Cleft Lip / Palate +/- hernia (umbilical / inguinal)
   Hypotonia/ Hypothyroidism                                                                 Growth retardation.
   Incure 5th finger/ Increased gap between 1st and 2nd toe                                  Micrognathia
   Leukemia risk x2/ Lung problem                                                            Genital Anomalies: ♂ Cryptorchidism; ♀ Prominent Clitoris
   Duodenal atresia/ Delayed development                                         DDx      Trisomy 13, Pena-Shokeir Syndrome.
   Hirshsprung's disease/ Hearing loss                                           Inv /    Chromosome            Chromosome Analysis
   Alzheimer's disease/ Alantoaxial instability                                  Dx       Screening             Triple Test.
   Squint/ Short neck                                                                                           Amniocentesis: Diagnostic.
   Protruding tongue/ Palm crease                                                                               Fetal US: May ID structural anomalies
   Round face/ Rolling eye (nystagmus)                                           Mx          Genetic counselling for family. Referral to parent support group.
   Occiput flat/ Oblique eye fissure                                             Prog        < 5% survive beyond 1 year.
   Brushfield spot/ Brachycephaly                                                            90% die prior to 1/12 due to cardiac /CNS defect complications.
   Low nasal bridge/ Language problem                                                        The few long term survivors have severe mental retardation &
   Epicanthic fold/ Ear folded                                                                  growth impairments.
   Mental retardation/ Myoclonus                                                             Patients with ‘partial trisomy 18’ have a better prognosis.
 HEAD & NECK                              ABDOMINAL                                           Recurrence risk for subsequent pregnancies is <1%.
   Microcephaly                            Duodenal atresia (10% assoc)
   Abundant neck skin                      Tracheoesophageal atresia            TURNER SYNDROME (45, X)
   Dysplastic, small ears                  Pyloric stenosis                     Def       Gonadal dysgenesis 2o to X chromosome abnormalities.
   Round head                              Hirschsprung’s disease               PP        Most (95%)  early miscarriage. ~ 20 miscarriages have TS.
   Flat occiput                          HANDS / FEET                                      Affects only ♀. 1:2500 ♀ Livebirths
   Upward slanting palebral                Broad hands
                                                                                  Cause     50% ♀: have 45 chromosomes with only 1 X chromosome.
      fissures?                             Incurving 5th digit.
                                                                                            Rest: Deletion of short arm of an X chromosome / an
 FACE                                       Single (Simian) palmar crease
                                                                                               isochromosome with 2 long arms and no short arm / variety of
   Flat facial profile                          (Dermatoglyphics)
                                                                                               structural defects on 1 of X chromosomes.
   Epicanthic folds (skin folds            Separation of 1st & 2nd toes
                                                                                            Incidence does not  with maternal age.
      superior medial to eyelids)         HEART (40%)
                                                                                            Risks of recurrence are very low.
   Peripheral silver iris spots            Atrial septal defect
                                                                                  Path      Aneuploidy: Meiotic Non Dysjunction: Monosomy
      (Brushfield’s)                        Ventricular septal defect
   Protruding tongue                       Primarily endocardial cushion        S&S       Cardiac abnormalities (specifically Coarctation)
   Blunt inner eye angle                        defects?                                   Lymphoedema of hands and feet in neonate
   Stenotic ear canals &                 RESPIRATORY                             C S       Ovaries underdeveloped (causing sterility, amenorrhea)
      eustachian tubes                      Frequent upper and lower             L N       Webbed neck
   Gingival disease                             respiratory tract infections     O E       Nipples widely spaced / inverted
 MUSCLE / BONE                            MENTAL                                  W S       Short stature
   Hypotonia                               Mental retardation: Mild – Mod       N         Nails: Wide carrying angle (cubitus valgus) and Hypoplastic
   Growth Retardation                                                                      Eyes: Ptosis, Nystagmus
   Dysplastic hips (Dx with X-ray)                                                         Shield chest
 DDx      May be confused with Zellweger syndrome (similar facial phenotype).     DDx    Noonan syndrome, Milroy’s syndrome, Type E brachydactyly, Multiple
          Other chromosomal abnormalities (inc Smith Magenis).                           pterygium syndrome.
                                                                                  Inv /  1/3 Pts              Dx at birth by ID of webbed neck,
WILL WESTON:                                                                                                                                  Page 9 of 15
 Dx                               lymphoedema of dorsum of hands, feet.                            Myotonic Dystrophy (+ some forms of congenital MD + other
          1/3 Pts            Dx in childhood during evaluation of short                            limb-girdle dystrophies) may involve cerebral cortex and 
                                  stature / other anomalies.                                        mental retardation & seizures.
          1/3 Pts            Dx during teenage years during evaluation of                         Arrhythmias & cardiac decompensation may occur  CHF.
                                  abnormal pubertal development.
          Imaging            Cardiac & Renal to ID assoc anomalies.                CONGENITAL HEART DISEASE: SUMMARY
 Mx          Growth hormone therapy beginning at 3-4 yrs.                          Def     
             Oestrogen / Progesterone replacement  development of 2o              PP       Most common group of structural malformations in infants.
                sexual characteristics at time of puberty (infertility persists).            6-8:1000 Live births have significant malformations.
             Surgical intervention for cardiac defects as necessary.                        10-20/1000 Live births have some anomaly of CV System.
             Appropriate educational interventions.                                         1:20 Stillbirths have a cardiac anomaly.
 Comp        Short stature, Infertility (possible with donor egg + IVF)            Cause TERATOGENS
             No Mental Retardation but visual spatial Learning disabilities                 Rubella        Peripheral Pulmonary Stenosis            30-35%
             Associations: Crohn’s disease, Chronic liver disease.                          SLE            Complete Heart Block                     35%
             Typical mode of death due to Heart disease.                                    OH             ASD, VSD, Tet of Fallot                  25%
                                                                                             Dm             Incidence increased overall              2%
 MUSCULAR DYSTROPHY: DUCHENNE (*D) & OTHERS                                                  Warfurin       Pulmonary Valve Stenosis                 5%
 Def      Progressive muscle diseases                                                    CHROMOSOMAL ANOMALIES (8% Associated)
 PP       Most frequent:12-33/100,000                                                       Down's         Atrioventricular Septal Defect (40%),    40%
 :DMD     1:3,3000 ♂ births                                                                                 VSD(30%),ASD(10%),T of Fallot(6%)
          Average age of Dx: 5.5 yrs.                                                       Edward's       Complex                                  60-80%
 Cause DUCHENNE MUSCULAR DYSTROPHY:                                                          Patau's        Complex                                  60-80%
 :DMD     Deletion of chromosome material on short arm of X                                 Turner's       Aortic Valve Stenosis, Coarc of Aorta    15%
             chromosome (site known to code for dystrophin protein)                         C22 MD*        Aortic Arch anomalies                    -
             Defect in Dystrophin protein  influx of Ca ions  destruction
                                                                                          * Chromosome 22 Microdeletion                       Rest Unknown
             of muscle cells   CPK
                                                                                    Class   NON CYANOTIC
          INHERITED: X Linked Recessive though 1/3 gene mutations.
                                                                                             Ventricular Septal Defect       See Below                 32%
 Cause    Becker Muscular Dystrophy due to defect in dystrophin protein
                                                                                             Patent Ductus Arteriosis        See Below                 12%
 & PP        (X Linked Recessive). PP: 3-6/100,000.
 (All)    Myotonic dystrophy is associated with trinucleide repeats                         Pulmonary Stenosis              Most asymptomatic         8%
             (autosomal dominant)                                                            Atrial Septal Defect            See Below                 6%
          Congenital Muscular Dystrophy (autosomal recessive)                               Coarctation Of Aorta            Aortic lumen narrows      6%
          Limb-girdle dystrophies (autosomal recessive or autosomal                         Aortic Stenosis                 > S&S than PS             5%
             dominant)                                                                    CYANOTIC
 S&S      HYPOTONIA and weakness at birth.                                                  Tetralogy of Fallot             4 Anatomcl Features       6%
 (All)    DELAYED MOTOR DEVELOPMENT & clumsiness.                                           Transposition of Great          2 Parallel                5%
          GAIT DISTURBANCE: Waddling, toe walking, Mounting stairs                             Arteries                      Circulations.
             one by one.
          GOWER’S SIGN: Child uses hand to push off floor to                       VENTRICULAR SEPTAL DEFECTS
             overcome proximal muscle weakness.                                     Def      2 Types: 1. PERIMEMBRANOUS; 2. MUSCULAR
          MUSCULAR ATROPHY or pseudohypertrophy (replacement                       PP       32% Cases of Congenital Heart Disease.
             of muscle with fat / fibrous tissue).                                           Presentation usually early due to loud murmur.
          RUBBERY TEXTURE OF MUSCLES due to infiltration of                                 M>F
             collagen & fat                                                         Cause    1. Perimembranous: Adjacent to Tricuspid valve.
          FASCICULATION of Muscle.                                                          2. Muscular: Completely surrounded by muscle (Less common)
          MYOTONIA: slow relaxation of muscle after contraction.                            Both may be single or multiple. Vary in size.
          REFLEXES Depressed or absent.                                            Path     LR shunt develops across VSD as pulmonary resistance  in
          MOBILITY Loss.                                                                        newborn period  pulmonary overcirculation assoc w Pulm HT
          SCOLIOSIS often occurs.                                                                 Pulm vascular resistance (which over time may be
          SEIZURES may occur in congenital MD.                                                  permanent  RV Hypertrophy  RL shunting – Reversal
 DDx   Spinal muscular atrophies, Myaesthenia gravis, Inflammatory                               aka Eisenmenger Syndrome)
 (All) myopathies, Metabolic myopathies, Endocrine myopathies,                      S&S     IF SMALL DEFECT:
       Peripheral nerve disease, Spinal cord disease, Neuromuscular                          Asymptomatic
       blockade, Periodic paralysis.                                                        IF LARGE DEFECT:
 Inv / CPK +/-              in Duchenne & Becker MD; may  once                            Heart F +/- SOB, FTT
 Dx    Aldolase, AST            muscle is destroyed.                                         Recurrent Chest infections
       EMG                  Shows myopathic pattern, including signs of                     Cyanosis (due to pulmonary vascular disease- now rare)
                                denervation.                                                 Endocarditis (late)
       Genetic Test         Available for Duchenne & Becker MD using                        THRILL: Parasternal
                                restriction fragment length polymorphism.                    MURMUR: Best heard at lower left sternal edge.
                            Myotonic Dystrophy using Trinucleotide                                     Loud Pansystolic when a small defect.
                                repeat analysis.                                                        Unimpressive ejection murmur when a large defect
                            Genetic testing may also be done prenatally.                                  (from flow across pulmonary valve).
       Bx                   May be necessary to differentiate b/w                           Heart F  Tachypnoea, Tachycardia, Enlarged Liver
                                different types of muscle disease.                           Associated with Coarctation of Aorta.
       ECG                  May show evidence of cardiomyopathy,                   DDx      Mitral regurgitation, Functional murmur
                                arrhythmias and CHF.                                         Right ventricular outflow tract obstruction (e.g. tetralogy of
 Mx       No Tx available to reverse progressive nature of MD.                                  Fallot, pulmonary stenosis),
          SLOW PROGRESSION: Steroids (S/E: Osteoporosis, immune                             Left ventricular outflow tract obstruction (e.g. aortic stenosis,
             system compromise…).                                                                subvalvular aortic stenosis)
          Myotonia: Tx with Quinidine, Phenytoin, Procainamide. (Drugs             Inv /  CXR         Small defects: Normal
             will not improve muscle weakness).                                     Dx                 Large defects: May be abnormal with cardiomegaly,
          Support Cardiac / Respiratory decompensations. Vital capacity                                   enlarged pulmonary arteries, increased vascular
             of <700ml is poor prognostic sign.                                                           pulmonary markings, pulmonary oedema.
       REHABILITATION:                                                                     ECG         Varies from N to grossly abnormal. Most important
          Contractures: Use passive stretching and night splints.                                         …R Ventricular hypertrophy.
          Muscle Power / Mobility: Appropriate exercise & mobility.                       Echo        Should delineate underlying anatomy.
          Scoliosis: Prevent- Good sitting posture.                                Mx       If small / asymptomatic: Wait for spont  in size / closure.
          Scoliosis: Reverse- Brace, Moulded seat, Spinal rod Insertion.                    Drug Tx for HF only needed when symptoms: Diuretics:
          Ambulation: May be facilitated by lengthening Achilles tendon.                        (Frusemide / Spironolactone + Thiazide) ACEi.
 Prog     DMD: Most children retain ability to walk/climb until 8.                          Surgery: Severe symptoms with FTT, Pulmonary HT with
          DMD: Most need wheelchair at 10-14.                                                   possible progression to Pulmonary vascular disease. (Pulm HT
          DMD: Hypoventilation is progressive & cause of death in 70%.                           damage to pulmonary casilliary vascular bed).
          DMD: 75% die by 20 yrs due to Respiratory F or associated                Prog     Most (30-50%) close spontaneously during 1st years of life with
             cardiomyopathy. 5% alive after 50.                                                  < 10% needing surgical closure.
          All: Weakness & contractures impair mobility.
                                                                                    Extra   ATRIOVENTRICULAR SEPTAL DEFECT:
          All: Scoliosis may impair pulmonary function.
                                                                                            PP:              Most commonly seen in DS patients
          All: Some children require ventilation.
          Becker’s MD: Similar to DMD but slower progression with                          CLASS:           Ranges from Primum type ASD to Complete AVSD.
             average age of onset at 11, inability to walk in later 20s, death              INV:             Similar to VSD.
             in early 40s (very variable).                                                  MX:              > Difficult due to complexity of intra cardiac repair.

WILL WESTON:                                                                                                                                    Page 10 of 15
 PATENT DUCTUS ARTERIOSIS (PDA)                                                     Path     Overriding A  Compresses Pulm A  Pulm Stenosis
 Def                                                                                        Overriding A  RV to push blood into Aorta as well as Pulm A 
 PP       F>M (2-3:1). Common in premature infants.                                         RVH
          5-10% of all congenital heart disease.                                   Embr     Pulmonary trunk is usually small, and there may be various degrees
 Cause    Most common congenital anomaly assoc with maternal rubella.                       of pulmonary artery stenosis as well.
 Path     DA connects pulmonary artery to descending aorta.                        S&S         Cyanosis: 1 of >obvious signs but not often present at birth.
          Flow of blood across PDA is from aorta to Pulmonary A (LR),                        
              following reduction in pulmonary vascular resistance after birth.     DDx
          Failure of DA to involute after birth to form Ligamentum                 Inv /                        
              Arteriosum  PDA.                                                     Dx                           
 S&S      Preterm Infants: Bounding pulse (due to increased pulse                  Mx
              pressure).                                                            Prog
          MURMUR: Systolic. At left sternal edge.
 DDx    Venous hum, VSD, Aortic insufficiency, Mitral insufficiency, AV             TRANSPOSITION OF GREAT ARTERIES (TGA)
        Malformations.                                                              Def      Conotruncal abnormality  RV giving rise to aorta; LV giving
 Inv /  CXR                                                                                     rise to pulmonary artery.
                     Indistinguishable from patient with large VSD.
 Dx     ECG                                                                         PP       Most common cause of cyanosis in immediate newborn period.
        Echo         Readily identifiable with cross sectional echo                         5% of all congenital cardiac defects.
                          assisted by Doppler US.                                            Incidence: 4.8/10,000 live births. ♂>♀ (3:1)
 Mx       Preterm: Duct ultimately closes. If symptomatic, Tx with fluid           Cause   
              restriction, diuretics, indomycin (a prostaglandin synthesase         Path     Complete separation of systemic and pulmonary circulations.
              inhibitor), surgical ligation may be required.                                            Systemic venous return passes from RA  RV 
          Young child with asymptomatic PDA: Closure (Transvenous                                        Aorta. (Desaturated – hypoxaemic blood)
              occlusion using coil device rather than old surgical ligation) is                         Pulmonary Venous blood  LA  LV  Pulmonary
              recommended to abolish lifelong risk of endocarditis.                                       Arteries (Saturated blood).
 Prog   Spontaneous closure:                                                                 No mixing of blood  Life incompatibility.
          Generally occurs in 1st week of life for term infants.                            Even short term survival postpartum requires some mixing of
          May be delayed in premature infants until postnatal corrected                        pulmonary and systemic blood.
              age approaches term.                                                                      VSD; ASD (patent foramen ovale); PDA
          After 1st year of life is rare.                                                              Therapeutic interventions.
 Comp     Mod – Large defects: May be assoc with CHF in infants +                  Embr     Defect resulting from failure of conus arteriosus to develop
              respiratory distress syndrome.                                                    normally during incorporation of bulbis cordis into the ventricles.
          Small defects: Generally asymptomatic (small endocarditis risk)                   Aorta lies anterior and right of pulmonary trunk
                                                                                    S&S      CYANOSIS- The dominant finding immediately after birth:
 ATRIAL SEPTAL DEFECT                                                                                   Usually presents within 0-2 days of life when Ductus
 Def        2 main types: 1: OSTIUM SECUNDUM; 2: OSTIUM PRIMUM                                           arteriosus closes   mixing of desaturated &
 PP         5-10 of all cases of congenital heart disease.                                               saturated blood.
            Incidence: 6.4/10 000 live births                                                          PO2 of 1-3kPa is not unusual.
            ♀>♂ (2:1)                      Osteum Secumdum: > Common                                   Presentation delayed & < severe if > mixing from
 Cause                                                                                                   associated anomalies e.g. VSD.
 Path      Both present with similar S&S, but anatomy quite different. RVH                   MURMUR: May be a systolic murmur. May be none. Not
           occurs in both after time with may  Pulm HT.                                        significant finding unless assoc with other defects e.g. VSD or
           1: SECUNDUM: Deficiency of foramen ovale & surrounding atrial                        pulmonic stenosis.
           septum.                                                                           HEART SOUND: Single Loud S2 (due to anteriorly positioned
           2: PRIMUM: Deficiency of atrioventicular septum. Characterised by:                   aortic valve closure obscures the sound of pulmonary valve
            Inter atrial communication b/w bottom end of atrial septum and                     closure).
               atrioventricular valves.                                                      Clubbing may be found if child presents > 1 year of life.
            Abnormal atrioventricular junction.                                    DDx      Other cyanotic congenital heart defects (e.g. pulmonary atresia)
            Abnormal atrioventricular valves (tri leaflet atrioventricular valve            Persistent pulmonary HT of Newborn (PPHN)
               is the hallmark).                                                    Inv / ECG          Usually normal but may show: Right ventricular
 S&S        None (common- murmur not often heard since pressure                    Dx                    hypertrophy, Right axis deviation.
               difference not as great as VSD)                                            CXR          N  Mild cardiomegaly
            Recurrent chest infections / wheeze                                                       N  Mild  in pulmonary vascularity.
            Heart F                                                                                   Classical cardiac silhouette: ‘Egg on a
            Arrhythmias (4th decade onwards)                                                             string’: Anterior position of aorta and
            HEART SOUND: Fixed & Widely split 2 nd HS (due to Right                                      posterior position of pulmonary artery
               ventricular stroke volume being both equal in both inspiration &                            narrow mediastinum; RV
               expiration).                                                                               Hypertrophy.
            MURMUR: Ejection Systolic- Best heard in 3rd left intercostals               Echo         With Doppler is Diagnostic. Essential to demonstrate
               space (due to increased flow across right ventricular outflow                              abnormal arterial connections & assoc anomalies.
               tract because of left to right shunt).                                     Cath         Cardiac Catheterisation is rarely needed for diagnosis,
            MURMUR: Rumbling Mid diastolic- Best heard at lower left                                     but balloon septostomy may allow better atrial mixing
               sternal edge (due to increased flow across tricuspid valve                                 and mitigate cyanosis  short term palliation.
               because of left to right shunt at atrial level).                     Mx    SICK CYANOSED NEONATE: (1): Mandatory; (2): Routine:
 DDx     Peripheral pulmonary stenosis (PPS), Pulmonary stenosis, Aortic                     Key is to improve mixing of saturated and desaturated blood.
         stenosis, PDA, Coarctation of aorta, Functional murmur.                          (1) PROSTAGLANDIN E1:
 Inv /   CXR          May show: Cardiomegaly, Enlarged pulmonary A,                         Maintains patency of ductus arteriosus
 Dx                      Increased pulmonary vascular markings.                              Decreases pulmonary vascular resistance   pulmonary
         ECG          With Secundum: Sinus rhythm with R axis deviation                        blood flow
                         due to R ventricular enlargement. R Ventricular                     …  in pulmonary venous return augmenting mixing through
                         hypertrophy is uncommon. Partial / complete RBBB is                    foramen ovale.
                         common but may occur in N children.                              (2) BALLOON ATRIAL SEPTOSTOMY
                      With Primum: Left axis deviation (so called ‘superior’                Catheter with expandable balloon at tip  umbilical or femoral
                         QRS axis)                                                              vein  RA  Foramen Ovale  LA: Balloon inflated & then
         Echo         May delineate underlying anatomy.  Dx                                   pulled through atrial septum  Ripping of atrial septum
 Mx         Symptoms (+ Evidence of R Arial or R Ventricular overload)                        rendering the flap of foramen ovale incompetent Allows for
               Surgery: Closure with umbrella device. Normally in 4-5th year of                 mixing of pulmonary and systemic blood within atria.
               life. Prevents Heart F & Arrhythmias later in life.                           Restrictive patent formen ovale and  pulmonary vascular
 Prog       Spontaneous closure may occur in 1st year of life                                  resistance may benefit from this.
            Most pts  S&S until adulthood (often 3rd decade): Pulmonary                 ATRIAL SWITCH PROCEDURE
               HT, Atrial dysrrhythmaias, HF, Tricuspid / mitral regurgitation               Anatomical Correction: Performed in neonatal period / early
                                                                                                infancy. Procedure of choice.
 TETRALOGY OF FALLOT                                                                         Pulmonary Artery and Aorta are transected (above arterial
 Def      Classic group defects consisting of: (V-RAP)                                         valves) and switched over. Coronary arteries must be
                  Pulmonary Stenosis (obstruction to RV outflow)                               transferred across to new aorta.  LV is pumping to systemic
                  Ventricular Septal Defect                                                    circulation & RV is pumping to pulmonary circulation.
                  Aorta Dextroposition                                                   BEFORE 1980s: MUSTARD OF SENNING PROCEDURE (Baffle):
                  Right Ventricular Hypertrophy                                             Physiological Correction: Baffle placed within atrium to divert
                                                                                                systemic blood  LV  Pulmonary Artery  Allowing
 PP      
                                                                                                pulmonary venous blood to pass into RV and then into Aorta.
 Cause   
                                                                                             Usually performed at 9/12 of age. Low early risk, but long term
WILL WESTON:                                                                                                                                    Page 11 of 15
                  problems (Stenosis of intra atria baffle, Frequent atrial           Whooping cough
                  dysrhythmias) make Atrial Switch Procedure > favourable.            Yellow fever
 Prog            Without surgical intervention, infants usually die within months.
                 Despite intense cyanosis at birth, success of early surgical is     CROUP (LARYNGOTRACHEOBRONRCHITIS) [& EPIGLOTTITIS in grey]
                  excellent.                                                          Def            Croup: URTI occurring in infants and toddlers
                 Surgical Mortality is low (2-5%) after Arterial Switch, even with                  Acute epiglottitis: Result of localized infection of supraglottic
                  assoc VSD                                                                             larynx  swelling of epiglottis  obstructs laryngeal inlet.
                                                                                      PP             Occurs 95% time in children. Range: 6/12 – 6 (Peak @ 1-2 yrs)
 SENSORY / MOTOR                                                                      Cause          Most common pathogen: Parainfluenza
                                                                                      Path           Infection Inflammation + Hypersecretion + Subglottic oedema
 DEAFNESS IN CHILDHOOD                                                                S&S                        CROUP                          EPIGLOTTTITIS
 Def                                                                                  Organism:                Parainfluenza VIRUS            H. influenzae BACTERIA
 PP       Newborn Hearing Screening programme                                         Age in years:            Less than two                  Two to six
          Health Visitor distraction test                                             Onset:                   Gradual                        Rapid
          Health technology assessment review                                         Previous attack:         Often                          No
          Oto-acoustic emission (from 04/2005)                                        Cough:                   Barking                        No
          Automated auditory brainstem response (from 04/2005)
                                                                                       Dysphagia:               No                             +++
 Cause   
                                                                                       Stridor:                 Mostly inspiratory             Insp/expiratory
                                                                                       Pyrexia:                 +                              ++
          Blocking of sound through external / middle ear
                                                                                       Position:                Lying down                     Sitting forward
          Glue Ear: Enlarged Adenoids / Eustachian tube dysfunction 
                                                                                       Drooling:                No                             +++
              Air imbalance  Glue production.
          SENSORI-NEURAL HEARING LOSS                                                 Nodes:                   +                               +++
          Damage to inner ear / Neurological system                                   Behaviour:               Struggling                     Quiet; terrified
          Risk Factors: Acquired, Infection (e.g. meningitis), Noise (e.g.            Voice:                   Hoarse                         Muffled
              music), Drugs (e.g. anticancer, ABx- streptomycin), Congenital,          Colour:                  Pink                           Grey
              Syndromes (e.g. DS), Non-Syndrome.                                      DDx        Stridor: Mainly an inspiratory sound. Harsh sound of main airways.
 Norm     0-3/12: Startles to sudden sounds                                                     ACUTE Causes:
          3-6/12: Soothes and responds to parents’ voices                                        Acute Laryngotracheobronrchitis           Expanding mediastinal mass
          6-12/12: Responds to name and develops speech sounds                                   Acute Epiglottitis                        Tetany
          12/12+: Responds to most sounds.                                                       Inhaled Body / Hot gas                    Diptheria ( Grey milk like
 S&S                                                                                             Allergy / Acute angioneurotic                sloughing)
                                                                                                   oedema                                   First attack of chronic stridor.
                                                                                                 CHRONIC CAUSES:
                                                                                                  Laryngomalacia                            Vascular Ring
 Inv /  Awareness            Of others (parents / school) of inability to
                                                                                                  Subglottic stenosis                       Subglottic Haemangioma
 Dx                             hear or  in speech.
                                                                                                  Vocal cord palsy
        Exam                 Oroscope: Pinna  in adults,  in adults.
                                                                                         Airway Obstruction…If foreign body, important
                             Weber’s & Rinne’s.
                                                                                             to appreciate following when performing CXR.                  R               L
        Hearing Test         Pure Tone Audiogram.
                                                                                         Most foreign bodies will be radiolucent.
        Tympanogram                                                                     Position 1  Wheeze only. May be no changes
 Mx     GLUE EAR:                                                                            on XR.
          Watch and wait  Grow out  Surgery… Grommet Insertion                        Position 2  Hyperexpansion (airway narrow
          …5 mins: Using microscope, Incision of tympanic membrane                         due to –ve pressure during expiration  air                         2
              Suction of glue  Insertion of grommet.                                        trapping)  Only appears on Expiratory film                         3
          Grommets stay in for 6-12/12 when they fall out.                                  since all other parts of lung will be dense.
          Children may have 4-5 sets, from 2 years and above.
                                                                                         Position 3  Collapse (complete blocking)  Only appears on Inspiratory
                                                                                             film since all other parts of lung will be air filled.
          Hearing Aids, Cochlear Implant, Bone anchored hearing aid (8-
                                                                                       Objects > Likely to lodge in R Bronchus due to > acute angle.
              9 hr operation).
                                                                                      Inv /      Assess            Degree of Recession; HR, RR, Cyanosis, Pallor
                                                                                      Dx                           Level of Consciousness
                                                                                                 CXR               Inspiratory & Expiratory if foreign body needs
                                                                                      Mx             Explain & Reassure
 NOTIFIABLE DISEASES                                                                                 O2; Butamethasone (steroid) Oral / Neb
 It is a statutory obligation that a medical practitioner must report a notifiable                   (Adrenalin Neb)
 disease to the Consultant responsible for Communicable Disease Control. See                         (Intubation if severe)
 Public Health (Control of Disease) Act 1984 Notifiable diseases include:                         Acute epiglotitis = paediatric emergency.
 PINK           Diseases for which there are routine vaccinations                                DO NOT:
 YELLOW         More Obvious Notifiable disease                                                      Panic or Alarm parents / child
 WHITE          Ones to learn                                                                        Examine child - esp do not try visualize epiglottitis w depressor
 Acute encephalitis                                                                                  Call senior anaesthetist, paediatrician and ENT surgeon
 Acute poliomyelitis                                                                                 Alert theatres / ICU; child needs to be admitted immediately
 Anthrax                                                                                             Be prepared for emergency laryngotomy in case of obstruction
 Cholera                                                                                                (when obstruction imminent, stridor  ominously quieter)
 Diphtheria                                                                                          If respiratory arrest appears to be intervening before senior
 Dysentery - amoebic or bacillary                                                                       help arrives, nebulised adrenaline can be used; buys time but
 Food poisoning                                                                                         does not solve underlying problem.
 Leprosy                                                                                             IV Access + Blood samples & swabs taken at this stage.
                                                                                                     Treatment for confirmed Dx is chloramphenicol, or cefotaxime,
                                                                                                        dependent upon local sensitivities of H influenzae B.
                                                                                                     Usually child with acute epiglottitis can be extubated after 1-2.
                                                                                                        At this stage, level of sedation is lifted and patient able to sit up
 Meningitis                                                                                             which aids airways clearance.
 Meningococcal septicaemia (without meningitis)
 Mumps                                                                                            Imaging rarely required, (Delaying Tx for this is  inappropriate.
 Ophthalmia neonatorum                                                                Comp         Respiratory Failure  Careful monitoring needed.
 Paratyphoid fever
 Plague                                                                               EXANTHEMATA
 Rabies                                                                               Exanthemata are diseases associated with a rash and a fever.
 Relapsing fever                                                                        BACTERIAL:        Meningitis, Scarlet Fever
 Rubella                                                                                VIRAL:            Measles, Rubella, Varicella, Roseola, Fifth Disease
 Scarlet fever
 Smallpox                                                                             MENINGITIS (Bacterial: BM, Viral: VM)
 Tetanus                                                                              Def    Inflammation of the meninges:  Outer Meninges  Inner = DAP:
 Tuberculosis                                                                                   Dura mater, Arachnoid membrane, Pia mater
 Typhoid fever                                                                        PP        BM: More common in winter
 Typhus                                                                                         VM: More common in spring / summer.
 Viral haemorrhagic fever                                                                       BM: 70% cases occur in children <2
 Viral hepatitis                                                                                BM: HIB vaccine has dramatically  H influenzae meningitis.
WILL WESTON:                                                                                                                                             Page 12 of 15
           RISK FACTORS FOR BACTERIAL MENINGITIS: HP Fish                                 Path      ORG: Group beta A haemolytic streptococci  Erythrogenic toxin
           Head Injury:           Basal skull fractures, Cranial or spinal surgery                 INCUBATION: 2-4 Days
           Place                  Overcrowded communities: Schools, Day centres          S&S          TONSILLITIS, FEVER, HEADACHE AND MALAISE 
           Foreign body           CSF shunts                                                          RASH (12-24 hrs Later, lasting 2-3 days):
           Immuno-                Carcinoma, Aids, No effective spleen, Sickle cell                            Face, Trunk, Arms  Body
           suppression             disease, Hypo-haemaglobulin-aemia, Dm                                        Many small papules on diffuse erythema… Rough
           Septic Site            Distant: Pneumonia                                                           Blanches on pressure
                                  Near: Sinusitis / Mastoiditis/ Otitis media                                  More marked over skinfolds. Mouth area sparing.
           Host Factors           Complement or Antibody deficiency                                            Desquamation on palms / soles.
                                  Old or young                                                        THROAT: Diffusely reddened, Enlarged and red tonsils covered
 Cause     : Also: Fungal, Mycobacterial, & Aseptic(drug induced) Meningitis.                           with a white exudate.
           CAUSES OF VIRAL MENINGITIS:                                                                 TONGUE: Initially furred with enlarged papillae 'white
              > Common: Enteroviruses, Mumps                                                            strawberry tongue',  lost after 2-3 days  strawberry tongue.
              < Common: HSV, arboviruses, HIV, polioviruses, VZV,                                     NODES: Regional Enlargement
                  parainfluenza, EBV, CMV, adenovirus, parovirus                                        Although, in general tonsil / pharynx is site of infection,
              : Viral has no specific Tx - supportive therapy indicated.                               occasionally other foci e.g. surgical wounds may occur
           CAUSES OF BACTERIAL MENINGITIS:                                                DDx
              Most freq bacteria beyond neonatal period:                                 Inv /     Clinical +            Usually clear from presentation. Diagnosis is
                          # 1: Neisseria Meningtitis (peaks at 6-12/12 & teens)          Dx        Swabs                    confirmed from cultures of throat swabs.
                          # 2: Strep Pneumoniae                                                    Titres                Antistreptolysin O titres may be helpful
                          # 3: H Influenza  N. meningitides = Meningococcus             Mx        DOC: Penicillin [Alt:Erythromycin], 10/7 (Rapid resolution in 24hrs).
           Age             Common- Ascending            Less common                       Comp      Rare, but include: Middle ear disease, Sinusitis, Pneumonia,
           Neonate          Gram -ve bacilli …          Listeria monocytogenes                    Rheumatic fever, Post-streptococcal glomerulonephritis
                              (E. coli, Proteus)
                            Streptococci (Gp B)                                          MEASLES                                                            …Viral
           Pre-             H. influenzae        #3     Mycobacterium tuberculosis      Def     
           school           N. meningitides #1                                           PP      
           Child            S. pneumoniae #2                                             Cause    ORG: RNA paramyxovirus
           Older            N. meningitidis #1          Listeria monocytogenes                   SPREAD: Respiratory Tract
           Child -          S. pneumoniae #2            Mycobacterium tuberculosis               INCUBATION: 8-14 Days  Classical features of illness
           Adult                                         Cryptococcus neoformans                  INFECTIVITY: From onset and for up to 1 week after rash
                                                          (in immunosuppressed)           S&S   CATARRHAL STAGE:
                                                         S. aureus (skull fracture)               GENERAL: Prodromal illness: fever, coryza, conjunctivitis,
                                                         H. influenzae              #3                cough. Irritability
 Path                                                                                             SKIN: Koplik spots: Buccal mucosa, especially inside of cheeks
 S&S       MENINGISM                                                                               NODES: Sometimes generalised.
              Headache, photophobia, stiff neck (pain on flexion –                             EXANTHEMATOUS STAGE:
                  irritation of spinal roots)                                                      SKIN: Maculopapular Rash 3 - 5 days later. Behind ears 
              KERNIG’S sign +ve: Pt supine with hip flexed & knee flexed at                           Body, becoming confluent, fading by Day 3.
                  90o; Pain* w knee ext whist hip still flexed. (K: is for Kicking!)      DDx
              BRUDZINSKI’S sign +ve: Positive when both knees and hips                   Inv / Clinical              Measles is a clinical diagnosis.
                  flexed* in response to passive flexion of neck towards chest            Dx    Antibodies            IgM & IgG antibodies in some cases.
                  (break neck SKIing) [* indicates spinal nerve root irritation]          Mx       Be Aware Of Complications. Isolation
           ICP                                                                                    Analgesics (Headache And Backache)
              BP,  Consciousness, Headache, N/V, Seizures,                                      Tx Bacterial Superinfection
                  irritability, drowsiness,  pulse, irregular RR                                  Monitor & Correct Nutritional / Hydrational  ; May Weight 
                                                                                                   Non-vaccinated contacts of sufferer should be given live
                                                                                                       measles vaccine, best within 3 days of the exposure.
                                                                                          Comp  Prognosis good in developed world, though still underestimated.
              Purpuric Rash ,  BP, Malaise, fever, arthritis / myalgia, odd
                                                                                                Most common:
               behaviour, tachypnoea,  pulse
                                                                                                   Febrile convulsions, Bronchopneumonia, Otitis media.
 DDx    Subarachnoid Haemorrhage, Migraine, Abscess
                                                                                                Less common:
        Acute infection (e.g. Cerebral malaria), Local infection causing neck
                                                                                                   Meningitis, Immunosuppression, Gastric symptoms.
        stiffness (e.g. cervical nodes, tetanus, => Both have N CSF), Viral
        Encephalitis (Difficult to distinguish), Brain tumour, Leukaemia, Heavy                 Rare:
                                                                                                   Encephalitis - which develops 7-10 days after the onset of
        metal poisoning, SLE, Kawasaki’s disease, Gasteroenteritis, Drugs,
                                                                                                       symptoms, Late complication of bronchiectasis
        Haemolytic-uraemic syndrome, Dubdural haematoma, Subarachnoid
        haemorrhage, Sinusitis, Mollaraet syndrome, Head trauma.                                Very rare:
 Inv /  LP                 Immediately UNLESS…                                                    Subacute Sclerosing Panencephalitis
 Dx                                     ICP
                                                                                          RUBELLA (aka GERMAN MEASLES)                                              …Viral
                                       Prolonged or Focal Seizure / Neurology
                                                                                          Def       True importance of rubella is the teratogenicity of virus during
                                       GCS < 13
                                                                                                       first Trim of pregnancy  Congenital rubella syndrome.
                                       Pupilliary asymmetry / Dilation
                                                                                          PP        Extensive immunisation program in UK (MMR).
                                    CT to rule out mass lesion / hydrocephalus
                           Record opening pressure, cell count, GAP.                     Path      ORG: Rubivirus, an RNA togavirus.
                         Disease                  Bacterial        Viral (<serious)                 SPREAD: By droplets from the respiratory tract.
                                                                                                    INCUBATION: 14 - 21 days and then S&S…
                         Glucose                                          
                                                                                          S&S       PRODROMAL SYMPTOMS: May be asymptomatic in young
                         Appearance                                       O
                                                                                                       children; S&S may include
                         Protein                                          
                                                                                                               FEVER, HEADACHE, MALAISE
        Blood C            Before Abs
                                                                                                               UPPER RESPIRATORY SYMPTOMS
        FBC               
                                                                                                    RASH: Pink macular rash - pink macules develop on face 
        U&E                To give relevance to CSF glucose levels, urea                              trunk & limbs. Rash appears over 1-2 days and fades within 4
        Urinalysis             and electrolytes, syphilitic and viral serology                         days, leaving neither staining / desquamation. In some patients
        Glucose                                                                                        no rash develops at all
        LFTs                                                                                       NODES: Cervical lymphadenopathy - esp post-auricular & sub-
        Skull XR           If head injury suspected                                                   occipital nodes
        Swab               Throat                                                                  EYES: Grittiness of eyes and suffusion of conjunctivae
 BACTERIAL…                                                                               DDx
 Tx        Cool, dark room                                                               Inv /  Child        Saliva samples are appropriate for a child
           Analgesia                                                                     Dx     Adult        Serological samples essential in case of pregnant
            Antibiotics: Benzylpenicillin                                                                       woman with suspected rubella infection.
           Notifiable disease                                                                                Haemagglutination inhibition antibodies appear soon
           Tx contacts with  Rifampicin + Men A&C vaccines                                                      after rash & reach peak titres in 6 - 12 days. Rapid 
           If,  Tx shock: IVI, protect airway                                                                   in HIA titres in paired sera obtained 2/52 apart in pts
 Comp   Neonates- mental handicap, C Palsy, deafness, blindness, seizures                                         presenting within 2/52 of exposure confirms rubella.
 Prog   Mortality: 10-20% (Even with optimal intervention)                                                    Alternative methods of confirming Dx include Inv of
                                                                                                                  serum for rubella-specific IgM or virus isolation
 SCARLET FEVER                                                          …Bacterial
 Def     
 PP      

WILL WESTON:                                                                                                                                          Page 13 of 15
           Baby          Foetus does not produce specific IgM until 23/40 & no                              Disappears > 2 / 7 (No desquamation / pigmentation).
                          methods able to detect these in cord blood are            DDx
                          currently in use - PCR is being evaluated                 Inv /                         
                       Congenitally infected babies are identified by              Dx                            
                          detecting rubella virus specific IgM in infant's blood:   Mx
                                 < 3 months, 100% IgM positive                     Comp      Uncommonly  Febrile convulsions. Otherwise, there is full recovery.
                                 3 to 6 months, 90% IgM positive
                                 6 to 12 months, 50% IgM positive                  FIFTH DISEASE (Slapped Cheek)                                             …Viral
 Mx         NONE. Prophylaxis by active immunization                               Def         As alternative name indicates, associated maculopapular rash
            Antenatal screening identifies mothers requiring vaccination                          often resembles slap marks on cheeks.
               during puerperium. Sero-negative ♀ of child-bearing age &            PP          School-aged children, sometimes occurring in epidemics.
               health workers who need to be protected against rubella will be
                                                                                    Cause       ORG: Human Erythrovirus (Formerly Parvovirus) Type B19
               offered MMR. (Pregnancy should be avoided for  1/12 after                       SPREAD:
               receiving MMR because vaccination is live                                        INCUBATION: 6 to 14 days
            If infection suspected during pregnancy  expert advice. Dx
               should always be confirmed via virus isolation, or antibody tests
                                                                                    S&S         ½  Prodrome: Mild fever, Sore throat, GI S&S for up to 4/7.
               showing seroconversion or specific IgM. All pregnant ♀ with
                                                                                                RASH:
               suspected rubella or exposed to rubella must be investigated
                                                                                                          Bright, erythematous, macular rash
               serologically, irrespective of a Hx of immunisation, clinical
               rubella or a previous positive rubella antibody test. Therapeutic                          Face: Appearance of a slapped cheek  > 2 days:
               abortion generally recommended after proven infection during                                 Proximal arms and extensor surfaces of legs  May
               first trimester.                                                                              Flexor surfaces & trunk (Rarely: Palms / soles
            Vaccination with live attenuated virus is C/I during pregnancy &                             Usually disappears within week.
               expert advice should be consulted regarding Mx. If gamma                         OTHERS: Mild constitutional disturbance with fever, cervical
               globulin is given soon after exposure there may be a <                              lymphadenopathy and, occasionally, arthralgia.
               incidence of clinical infection (Still be subclinical infection      DDx
               present and fetus may still become infected).                        Inv /    Antibody             Specific IgM antibody to parvovirus B19
            Infected infants excrete virus for months source of infection.        Dx        Erythrovirus B19 infection may  false positive Paul Bunnell test
 Comp       Thrombocytopaenia                                                      Mx
 -Rare      Encephalitis and polyneuritis                                          Comp     Based on the fact that tends mostly to affect cells with a rapid
            Arthritis or arthralgia in adolescents                                          turnover
            Congenital rubella syndrome                                                        Little seen in healthy individuals
 RUBELLA Risk of Congenital Malformation                                                        May precipitate aplastic crisis in people with sickle cell
 Gestation   Likelihood of malformations                                                           anaemia, spherocytosis, or leukaemia.
 1-2 / 12    65-85% chance of illness, multiple defects/ spontaneous abortion                Transplacental infection in 33%. 9% of in utero infections assoc with
 3 / 12      30-35% chance of illness, usually a single defect, deafness or                  adverse outcomes - Spontaneous abortion, Stillbirth, and Non-
             congenital heart disease                                                        Immune Hydrops Foetalis. Foetal risk is greatest in 2nd Trim.
 4 /12       10% risk of congenital defects, most commonly deafness
 > 20/40     Occasional deafness                                                    INCUBATION PERIODS AND PERIODS OF INFECTIVITY
                                                                                    Incubation period of disease refers to time b/w contact with a carrier of disease
 VARICELLA – CHICKENPOX                                                …Viral       and development of S&S. Does not refer to time to infectivity, which in many
                                                                                    instances is much shorter. Ranges represent the extremes of presentation)
 Def       Chickenpox is highly infectious. Name is said to relate to
               similarity of skin lesions to boiled chick-peas                      DISEASE              INCUBATION                INFECTIVITY
 PP        Acute contagious disease predominantly of children, though it           DIPHTHERIA           1-7 / 7
               may occur at any age                                                 TETANUS              24 hrs - 24 /7
 Cause     ORG: varicella zoster virus                                             PERTUSSIS            7 - 14 / 7                1 / 52 after exposure until 3 / 52
           SPREAD:                                                                                                                after onset of S&S (but only 7 / 7
           INCUBATION: 14 up to 21 days                                                                                           if ABx given)
           INFECTIVITY: 4 days before the appearance of rash until all             POLIO                7 - 14 / 7
               lesions have scabbed over (approximately one week).                  MEASLES              8 - 14 / 7, with          From appearance of prodromal
 Path                                                                                                    encephalitis              S&S to 4 days after onset of rash
 S&S       SKIN: Macular, papular, or vesicular depending on age                                        7 - 10 / 7 after S&S
               (vesicles dry and crust over, sometimes scar if scratched to         MUMPS                16 - 21 / 7               3 / 7before salivary gland swelling
               excess). Haemorrhagic rash may occur in immuno-suppressed.                                                          to 7 days after
 DDx                                                                                RUBELLA              14 - 21 / 7               One week before onset of rash
 Inv /  Clinical               The diagnosis is generally clinical.                                                               until 4 days after
 Dx     Also                   There is a rising antibody titre                    CHICKEN POX          14 - 21 / 7, with         A few days before onset of rash
                               Virus can be cultured, although takes time.                              cerebellar                develops and not more than 6 / 7
                               Giant cells can be isolated from the lesions                                                       after first lesions appear.
 Mx        Bathe: Calamine (antipruritic), Chlorohexidine (antiseptic).            ENCEPHALITIS         3 - 4 / 7 after S&S
           Oral aciclovir (immuocompetent adults, Older adolescents)               5th DISEASE          6 - 14 / 7
           Immunosuppressed: Immunoglobulin to varicella zoster and                SCARLET              2-4 /7                    10-21 / 7 after rash onset (but
               aciclovir within 2 days of contact. If S&S  Aciclovir.              FEVER                                          only 1 day if penicillin given)
           Antibiotics should be given for secondary infections.                   SUMMARY              Variable but from 7-      INFECTIVE UNTIL:
 Comp     Secondary infections:                                                                          14 days in most.          Rash: 1/52 after onset.
           Pneumonia                                                                                                              Pertussis 3/52 after onset.
           Bacterial infection of lesions                                                                                         Mumps 1/52 after  Swelling.
           Ataxia 3 to 4 (up to 8) days after onset of rash                        MMR
           80% make a full recovery                                                  Introduced into UK in 1988, with target of 90% uptake in 1 to 2 year olds
          In pregnancy:                                                               A single dose of MMR protects approximately 90-95% children against
           Considerable maternal morbidity                                             measles and mumps and over 95% protection against rubella
           Congenital varicella syndrome in 10% if infected in first 20 /40          A second dose of MMR vaccine became routine in 1996. Prime aim of
                                                                                        this dose is not to act as a booster, but to protect those who were not
 ROSEOLA                                                                …Viral          protected by first. Second MMR vaccine can be given at any time after
 Def             Benign Condition                                                      first MMR vaccine, as long as at least three months have elapsed
 PP              Most common in infants of 6-18/12. Does not occur in adults.        Current evidence does not support suggestions that MMR or MR
                                                                                        vaccines cause autism or Crohn's disease.
 Cause           ORG: Human Herpes Virus Type 6
                 SPREAD:
                 INCUBATION: 10 to 15 days
 S&S             Pyrexia
                 Mild pharyngitis
                 Lymphadenopathy
                 Temperature  N after 3-4 days, Accompanied by rash
                 SKIN: Rash:
                         Rose-pink macular.
                         Trunk Face & extremities.
                         Prominent over thighs / buttocks, where each macule
                           is sometimes surrounded by a fine halo.

WILL WESTON:                                                                                                                                      Page 14 of 15
                                HAND FOOT AND MOUTH DISEASE
                                Def    Acute Viral Self Limiting Condition.
                                PP        Affects Children < 10.
                                          Epidemics generally occur in summer to early autumn months,
                                              although cases can occur sporadically all year.
                                Cause     Coxsackievirus A type 16 (A16) is cause of most cases.
                                          Illness also assoc with coxsackievirus A5, A7, A9, A10, B2, B5.
                                          Enterovirus 71 also caused outbreaks with assoc neurologic
                                          SPREAD: Faecal-oral  Viraemia followed by invasion of skin /

                  5 DISEASE

                                              mucous membranes.
                                          INCUBATION: 3-days
                                S&S       MALAISE
                                          SORE THROAT, DYSPHAGIA
                  th                      PYREXIA: 38 - 39 o C for 1-2 days.
                                          MOUTH LESIONS (Most Common)
                                                     VESICLES in Oral Cavity, Buccal Mucosa, Tongue
                                                     Vesicles  Form BULLAE and ulcerate
                                          SKIN LESIONS:
                                                     Typical eruption appears on hands & feet
                                                        (Occasinoally on buttocks in small children).
                                                     Tender papules and clear vesicles with surrounding
                                                        zone erythema.
                                Inv /  Dx clinical. However, Coxsackie A (generally A16) virus is isolated
                                Dx     from lesions and stools. Serum testing may reveal a specific antibody.
                                Tx     Treatment supportive and symptomatic. Ensure adequate fluid intake
                                       to prevent dehydration. Cold liquids are generally preferable. Spicy or
                                       acidic substances may cause discomfort.
                                Mx     Exclusion from school (guidance re: common infections): Conditions
                                       where there is no recommended period to be kept away from school

                                       (once the child is well): influenza; cold sores (HSV); molluscum
                                       contagiosum; ringworm (tinea); athlete's foot; hand, foot and mouth
                                       disease; roseola; slapped cheek disease (parvovirus); warts and
                                       verrucae; conjunctivitis; glandular fever; head lice; non-
                                       meningiococcal meningitis; thread worm; tonsillitis
                                Prog      Generally mild, self-limited illness that resolves in 7-10 days;
                                              occasionally, lesions may recur.
                                          Rarely, aseptic meningitis accompanies coxsackievirus-induced
                                              HFMD. Several oral ulcerations can interfere with oral intake
                                              and cause dehydration (most common complication).
                                          Enterovirus 71 has a > incidence of neurologic involvement, inc
                                              a poliolike syndrome, aseptic meningitis, encephalitis,
                                              encephalomyelitis, and, rarely, pulmonary edema.
                                          Neurologic involvement with sequelae is less likely to occur in
                                              patients with HFMD caused by coxsackievirus strains than with
                                              HFMD caused by enterovirus 71. Rare case reports show
                                              spontaneous abortions associated with HFMD.

                  CHICKEN POX

WILL WESTON:                                                                               Page 15 of 15