NEONATES Disadvantage: Repeated lengthening in growing child.
For More Neonate Info Australian Royal Price Albert H Website: Others: Lumboperitoneal / Torkildsen / Ventriculopleural.
Http://www.cs.nsw.gov.au/rpa/neonatal/default2.htm...then 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.
Cause CONGENITAL CAUSES IN INFANTS AND CHILDREN
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.
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).
A ventriculoperitoneal (VP) shunt used most commonly.
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;
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 RL
(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
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)
Comp Mortality: Variable due to complex interactions with surfactant.
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 /
SCBU. (Affecting 1-2% admissions to NICU).
Glucose Exclude hypoglycaemia.
Cause May be sporadic / epidemic.
Platelets Prematurity, Rapid advancements of feeds, PDA, Sepsis,
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
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.
Mx STOP ORAL FEEDING
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.
Def CAPILLIARY NAEVI
Tx: Laser removal in larger cases
Prog: Norm resolve spontaneously
Def CONGENITAL DIAGPHRAGMATIC HERNIA
Prog: Survival: 80% of all surgery. 20-30% of all cases Dx.
Def STERNAL RECESSION
Signifies: Respiratory distress
Causes: Surfactant deficiency disease (HMD, RDS), Meconium
aspiration syndrome, Pneumonia.
Assoc with chordee, urethral stenosis.
Def CONGENITAL DISLOCATION OF HIP
Assoc: ♂ Sex, FHx, Multiple birth, breech presentation.
Tx: Double Nappies, Splinting in abduction.
CHILDHOOD DEVELOPMENTAL DELAY
Def Global DD refers to a delay in all milestone, particularly
Language, Fine motor, Social skills
Worrying as usually indicates significant learning disability-
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).
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.
Prog Behavioural / Intellectual difficulties (Fe is assoc with brain
Gastro oesophageal reflux
Be sure to properly Dx IDA rather than haemoglobinopathies Infection:
etc, due to possibility of creating iron overload state.
Respiratory tract / otitis media
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.
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
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
Perineal, Cutaneous Fistula
Defective epithelial ion Amiloride,
transport ( Cl secretion, Na nucleotide
Imperforate Anus Without Fistula
IN FEMALES: Mucous viscosity and stasis Inhaled DNase,
Perineal Cutaneous 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
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.
Prog Sputum Culture and M
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
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).
MASS: Sausage shaped abdominal.
PR BLOOD: Classically, red-current jelly stools;
DDx Gastroenteritis, other causes of intestinal obstruction, constipation Steroids
Haemolytic uraemic syndrome.
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.
WILL WESTON: Page 7 of 15
Def Inv /
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:
FAILURE TO THRIVE
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.
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.
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)
Dermoid cyst (Requires removal but not urgent)
NON ORGANIC: Lasting deficit is common and child may
Neural abnormalities, though rare, may occur during growth
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
WILL WESTON: Page 8 of 15
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%
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 LR 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 RL 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 (LR),
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
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
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
pulmonary venous blood to pass into RV and then into Aorta.
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 +++
Stridor: Mostly inspiratory Insp/expiratory
Path CONDUCTIVE HEARING LOSS
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.
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.
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
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
behaviour, tachypnoea, pulse
Febrile convulsions, Bronchopneumonia, Otitis media.
DDx Subarachnoid Haemorrhage, Migraine, Abscess
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
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…
S&S PRODROMAL SYMPTOMS: May be asymptomatic in young
children; S&S may include
FEVER, HEADACHE, MALAISE
Blood C Before Abs
UPPER RESPIRATORY SYMPTOMS
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
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
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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
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
INCUBATION: 10 to 15 days
Temperature N after 3-4 days, Accompanied by rash
Trunk Face & extremities.
Prominent over thighs / buttocks, where each macule
is sometimes surrounded by a fine halo.
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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 /
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
Typical eruption appears on hands & feet
(Occasinoally on buttocks in small children).
Tender papules and clear vesicles with surrounding
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.
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