Diseases in pictures By
Dr. fadhil salman
1. Staphylococcal skin scalded 38. Malar flush
syndrome 39. Malar rash
2. Ehlers-Danlos syndromes 40. Malrotation with midgut
3. Tonsillitis 41. Microcephaly
4. Telangiectasia 42. Measles
5. Tetra logy of fallout 43. Micrognathia
6. Achondroplasia 44. Fifth disease
7. Acrodermatitis 45. Molluscum contagiosum
enteropathica 46. Mumps
8. Female 47. Osteopetrosis
pseudohermaphrodite 48. Metaphyseal
9. Café au lait spots Chondrodysplasia
10. Cavernous haemangioma 49. Retinoblastoma
11. Clubbing 50. Neonatal oral thrush
12. Diaphragmatic Hernia 51. Rickets
13. Exanthema subitum 52. Herpes Zoster
14. Caroli’s Disease 53. Umbilical sepsis
15. Actinomycosis 54. Umbilical granuloma
16. Cornelia De Lange 55. Dextrocardia
Syndrome 56. Goodpastures' syndrome
17. Chicken pox 57. Mitral incompetence
18. Empyema 58. Pleural effusion
19. Canavan Disease 59. Hyperlucent lung
20. Kassabach-Merritt 60. Cystic Hygroma
Syndrome 61. Histiocytosis (LCH)
21. Klippel Trenaunay Weber 62. Hydranencephaly
Syndrome 63. Hurler's Syndrome
22. Systemic lupus 64. Foreign body aspiration
erythematosus 65. Mangolian Spot
23. Pradder Willi Syndrome 66. Monilial diaper dermatitis
24. Exomphalos 67. Sternocleidomastoid
25. Gastroschisis tumour
26. Hypothyroidism 68. Congenital lung cysts
27. Stevens-Johnson syndrome 69. Congenital lung cysts
28. Idiopathic 70. Congenital Diaphragmatic
Thrombocytopenic Purpura Hernia
29. Henoch-Schonlein purpura 71. Renal Agenesis
30. Meningococcemia 72. Cruozon craniofacial
31. Urticaria dystosis
32. Abscess: Brain 73. Moya Moya Disease
33. Abscess: Lung abscess 74. Jaundice
34. Abscess: Neonatal mastitis 75. Bilary atresia
35. Abscess: Iatrogenic 76. Herpetic Gingivostomatits
36. Orbital cellulitis 77. Marasmus
37. Pustules: Neonatal 78. Acute myeloid leukemia
79. Xanthoma 93. Cleft Lip
80. Hydrocephalus 94. Rachitic Rosary
81. Kayser-Fleischer ring 95. Inguinal Hernia
82. Pierre Robin Syndrome 96. Orbital Ecchymosis
83. Meningocele and 97. Gianotti Crosti Syndrome
Myelomeningocele 98. HIV Children
84. Rheumatoid Arthritis 99. Club Foot
85. Gangrene of Limb 100. Nephrotic Syndrome
86. Bladder Exstrophy 101. Muscular Dystrophy
87. Carpopedal Spasm in 102. Lesch-Nyhan Syndrome
Tetany 103. Hypothyrodism
88. Subconjunctival 104. Chylothorax
Haemorrhage 105. Thymoma
90. Erb-duchenne paralysis
91. Giant congenital pigmented
1. Staphylococcal skin scalded syndrome:
In neonates, young children, and immunocompromised individuals enough
toxin can be produced by a localized infection and released into the blood
stream to cause widespread superficial exfoliation resulting in staphylococcal
scalded skin syndrome. Most individuals seem to acquire neutralizing
antibodies to this toxin during childhood and thus this disease tends to be
restricted to the young or the immunoimpaired. Since the toxin is primarily
eliminated through the kidneys, patients with renal failure may also be at risk.
It should not be confused with the much more serious form of epidermal
sloughing, toxic epidermal necrolysis (TEN), which involves the loss of the
entire epidermal surface, not just the stratum corneum. TEN is a dermatologic
emergency treated like a widespread burn injury and is most often secondary
to a drug reaction.
2. Ehlers-Danlos syndromes (EDS):
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable
connective tissue disorders characterized by articular hypermobility, skin
extensibility and tissue fragility.
The typical findings are
o redder-than-normal tonsils
o a yellow or white coating on the tonsils
o a funny-sounding voice
o swollen glands in the neck
o bad breath
Telangiectasias are found in areas of cutaneous inflammation. For example, lesions of
discoid lupus frequently have telangiectasias within them. Ataxia-telangiectasia (AT)
is an autosomal recessive genetic disorder characterized by cerebellar ataxia,
oculocutaneous telangiectasia, and immunodeficiency.
5. Tetralogy of fallot:
· A cyanotic congenital heart disease characterized by right ventricular
hypertrophy, pulmonary stenosis, ventricular septal defect (VSD), and
dextroposition of the aorta.
· X-ray: boot-shaped (coeur en sabot)
o concavity of L cardiac border (no PA)
o normal heart size
o RVH -> elevation of apical shadow
· diminished pulmonary vascularity
· aortic arch to R in 20%
A non-lethal type of congenital dwarfism characterized by typical skeletal
dysplasias (rhizometric micromelia), a large head, and neurological
manifestations. There may be recurrent and multiple fractures. Limbs:
rhizometric micromelia,shortened limbs, proximal > distal shortening, elbows
- lack of full extension and supination ,legs - genu varum (bowleg), hands -
trident (splayed), deviated towards ulna, short and broad .
7. Acrodermatitis enteropathica:
Acrodermatitis enteropathica is a rare autosomal recessive disorder
characterized by abnormalities in zinc absorption. Clinical manifestations
include diarrhea, alopecia, muscle wasting, depression, irritability, and a rash
involving the extremities, face, and perineum. The rash is characterized by
vesicular and pustular crusting with scaling and erythema. In addition,
hypopigmentation and corneal edema have been described in these patients.
8. Female pseudohermaphrodite:
Overall, Congenital adrenal hyperplasia (CAH) is the most frequent cause of
ambiguous genitalia in the newborn, constituting approximately 60% of all
intersex cases. CAH produces a female pseudohermaphrodite, which is a
gonadal female with a virilized phenotype.
The basic biochemical defect is an enzymatic block that prevents sufficient
cortisol production. Biofeedback via the pituitary gland causes the precursor to
accumulate above the block. Clinical manifestation of CAH depends on which
enzymatic defect is present.
9. Café au lait spots:
Neurofibromatosis (VON RECKLINGHAUSEN'S DISEASE) 1 is
characterized by cutaneous neurofibromas, pigmented lesions of the skin
called cafe au lait spots, freckling in non-sun exposed areas such as the axilla,
hamartomas of the iris termed Lisch nodules, and pseudoarthrosis of the tibia.
Neurofibromas are benign peripheral nerve tumors composed of proliferating
Schwann cells and fibroblasts. They present as multiple, palpable, rubbery,
cutaneous tumors. They are generally asymptomatic; however, if they grow in
an enclosed space, e.g., the intervertebral foramen, they may produce a
compressive radiculopathy or neuropathy. Aqueductal stenosis with
hydrocephalus, scoliosis, short stature, hypertension, epilepsy, and mental
retardation may also occur.
10. Cavernous haemangioma:
A "cavernous hemangioma" is not a hemangioma but a venous malformation
in which there is a dearth of smooth muscle in the wall of a large thin venous
structure lined by endothelium. These never regress spontaneously, and
neither glucorticoids nor IFN-? are effective.
Hypertrophic osteoarthropathy (HOA) is characterized by clubbing of digits
and, in more advanced stages, by periosteal new bone formation and synovial
effusions. HOA occurs in primary and familial forms and usually begins in
childhood. The secondary form of HOA is associated with intrathoracic
malignancies, suppurative lung disease, congenital heart disease, and a variety
of other disorders and is more common in adults. Clubbing is almost always a
feature of HOA but can occur as an isolated manifestation. The presence of
clubbing in isolation is generally considered to represent either an early stage
or an element in the spectrum of HOA. The presence of only clubbing in a
patient usually has the same clinical significance as HOA.
12. Diaphragmatic Hernia:
Congenital Diaphragmatic Hernia (CDH) occurs in about one in every 2,500
live births. Absence of the diaphragm may occur on the left, right or both
sides, but the left side is most common. There is a wide discrepancy between
the “visible” mortality reported from children’s centers, which treat only those
infants who survive gestation, birth, resuscitation, transport and often major
surgery, and the true mortality, based on all prenatally diagnosed cases, which
has been called the “hidden mortality” of CDH.
13. Exanthema subitum:
Exanthema subitum had been speculated to be a viral disease although its
pathogen is unknown. Human herpesvirus 6 (HHV-6), first isolated in 1986,
was proved by Yamanishi et al. to be the causal agent of exanthema subitum.
The typical presentation is appearance of generalized macular rash when the
fever subsides without other localizing signs. The common age group affected
are less than two years.
14. Caroli’s Disease:
Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts. This
is a rare congenital disorder that classically causes saccular ductal dilatation,
which usually is segmental. Caroli disease is associated with recurrent
bacterial cholangitis and stone formation.
Caroli disease also is known as communicating cavernous ectasia or
congenital cystic dilatation of the intrahepatic biliary tree. It is distinct from
other diseases that cause ductal dilatation caused by obstruction. It is not one
of the many choledochal cyst derivatives.
Actinomycosis is a chronic, suppurating, granulomatous condition caused by
bacteria producing branching hyphae, such as Actinomyces israelii. Most
commonly affecting the cheek or mandibular skin, lesions can also be located
in the thorax or elsewhere. Actinomyces, produces a chronic fibrotic
necrotizing process that crosses tissue planes and may involve the pleural
space, ribs, vertebrae, and subcutaneous tissue, with eventual discharge of
sulfur granules (macroscopic bacterial masses) through the skin (empyema
Typically, there is a group of dull red nodules, with sinuses draining colonies
of organisms called "sulfur" granules.
In the mouth and elsewhere, the lesion extends from a focus of bone
involvement, or from some deeper focus.
- Long term (more than a year), high dose (10 million units daily) penicillin
may be required, with or without surgical debridement.
- Alternatives include imipenem and erythromycin.
16. Cornelia De Lange Syndrome:
A disorder of unknown etiology resulting in a syndrome characterized by
specific dysmorphic features. The following clinical pictures are seen:
1. Head and Neck:
microcephaly +/- brachycephaly ,micrognathia ,low hairline ,low set ears
,dilated veins on temples +/- forehead ,synophris (confluent eyebrows) ,long
curly eyelashes ,broad and/or depressed nasal bridge, anteverted nostrils,
prominent philtrum ,thin upper lip, downturned angles of mouth ,high arched
palate, delayed eruption of teeth ,bluish tinge around eyes, nose +/- mouth.
limitation of extension at elbows ,small hands and feet with short digits ,single
transverse palmar crease, clinodactyly of fifth fingers, proximally placed
thumbs, webbing of 2nd and 3rd toes .
mental retardation ,growth retardation ,hirsutism ,cutis marmorata, birth
weight <2500g ,neonatal difficulty with feeding +/- respiration.
17. Chicken pox:
Varicella-zoster virus (VZV) causes two distinct clinical entities: varicella
(chickenpox) and herpes zoster (shingles). The incubation period of
chickenpox ranges between 10 and 21 days but is usually between 14 and 17
days. Secondary attack rates in susceptible siblings within a household are
between 70 and 90%. Patients are infectious approximately 48 h prior to the
onset of the vesicular rash, during the period of vesicle formation (which
generally lasts 4 to 5 days), and until all vesicles are crusted.
Clinically, chickenpox presents as a rash, low-grade fever, and malaise,
although a few patients develop a prodrome 1 to 2 days before onset of the
exanthem. In the immunocompetent patient, this is usually a benign illness
that is associated with lassitude and with body temperatures of 37.8 to 39.4?C
(100 to 103?F) of 3 to 5 days' duration. The skin lesions?the hallmark of the
infection?include maculopapules, vesicles, and scabs in various stages of
evolution. These lesions, which evolve from maculopapules to vesicles over
hours to days, appear on the trunk and face and rapidly spread to involve other
areas of the body. Most are small and have an erythematous base with a
diameter of 5 to 10 mm. Successive crops appear over a 2- to 4-day period.
Pleural empyema is a common complication of pneumonia in children and
increases the already-considerable morbidity associated with this infection.
The commonest aetiological agent is S. aureus which cause pneumonia
without predisposing epidemiologic or host factors that favor colonization of
the respiratory tract and/or that impair defense mechanisms. Tuberculous
empyema is a less common complication of pulmonary tuberculosis. All of the
cases needs drainage with decortication which improves the lung function and
reduces the duration of the hospital stay.
19. Canavan Disease:
Canavan disease is a severe progressive leukodystrophy characterized by
swelling and spongy degeneration of the white matter of the brain. It is an
autosomal recessive disease found more frequently among Ashkenazi Jews.
This MRI is of a one and half year old female child from Myagdi, Gandaki
Zone, who presented with the history of difficulty in walking for two months
duration. The clinical features are thse of severe mental retardation with
inability to gain developmental milestones. Hypotonia, head lag and
macrocephaly are characteristic of Canavan disease and become apparent after
5-6 months of age. Massive excretion in the urine of N-acetylaspartic acid is
the biochemical marker for Canavan disease, which is caused by deficiency of
the enzyme aspartoacylase. Computed Tomography (CT) scan of the head or
Magnetic Resonance Imaging (MRI) of the brain reveal diffuse white matter
degeneration. There is no treatment.
20. Kassabach-Merritt Syndrome:
Kassabach-Merrit (KM) syndrome is a consumption coagulopathy that occurs
as a complication of angiomatous nevi. Angiomatous nevi leading to KM
syndrome are generally single, deep lesions of large size, but the disorder can
vary occasionally and occur in association with smaller and more superficial
lesions. The responsible angiomas most commonly occur on the trunk, neck
and proximal parts of the limbs, particularly the thighs and shoulders, and are
relatively uncommon on the head. This picture is of an 2 month old infant who
was brought to the pediatric outpatient department for evaluation of a swollen
left arm since birth. On examination the limb was enveloped by a rapidly
growing hemangioma. Although the child appeared well and the hemangioma
was not symptomatic, a small ulcer was noted near the elbow, and the platelet
count was less than 10,000.
21. Klippel Trenaunay Weber Syndrome:
Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain,
varicose veins, and bony and soft tissue hypertrophy involving an extremity.
KTWS generally affects a single extremity, although cases of multiple
affected limbs have been reported. The leg is the most common site followed
by the arms, the trunk, and rarely the head and the neck. This hemangioma has
a distinct, linear border that respects the midline. Hemangioma is often noted
on the lateral aspect of the limb.It is typically of the nevus flammeus type, but
cavernous hemangiomas or lymphangiomas may also occur. Nevus flammeus
is a salmon pink patch, sometimes with a verrucous quality, which evolves to
a deep purple color with time. Unlike strawberry hemangiomas, the port-wine
stain hemangioma possesses neither a proliferative nor a regressing phase.
22. Systemic lupus erythematosus:
Systemic lupus erythematosus (SLE) is a disease of unknown etiology in
which tissues and cells are damaged by pathogenic autoantibodies and
immune complexes. The abnormal immune responses include (1) polyclonal
and antigen-specific T and B lymphocyte hyperactivity, and (2) inadequate
regulation of that hyperactivity. At onset, SLE may involve only one organ
system (additional manifestations occur later) or may be multisystemic. The
malar ("butterfly") rash is a photosensitive, fixed erythematous rash, flat or
raised, over the cheeks and bridge of the nose, often involving the chin and
23. Pradder Willi Syndrome:
Prader-Willi Syndrome (PWS) is a chromosomal (chromosome 15) disorder,
which can affect children of both sexes and of any race or country. Three
Swiss doctors -Prader, Labhart and Willi - first described it in 1956. Major
characteristics: obesity, hypotonia, hypogonadism, hyperphagia, cognitive
impairment, difficult behaviors.
It is a herniation of intra-abdominal contents through the umbilical ring into
the umbilical cord. It could be associated with Beckwith-Wiedemann
syndrome (exomphalos, macroglossia and gigantism).
25. Gastroschisis :
It is a complete defect through all layers of the anterior abdominal wall
extending up to 3 cm in length and usually lying to the right of the normally
attached umbilical cord. At delivery it is essential the baby is placed in a
plastic bag extending above the level of defect leaving the head and upper
extremity exposed and urgently referred to neonatal surgical unit.
This condition could be congenital or acquired. At birth the diagnosis is not
always possible but as the neonate grows the condition is recognizable by
hypothermia, hoarse cry, prolonged jaundice, rough dry skin, macroglossia,
and sparse, dry and straight hair. Constipation, delayed milestones of
development, delayed closure of cranial sutures and failure to gain height are
other features seen subsequently if not treated.
27. Stevens-Johnson syndrome:
It is a blistering disorder that is usually more severe than erythema
multiforme. Initial presentation is often a sore throat, malaise, and fever.
Within a few days, in addition to erosions of multiple mucous membranes,
small blisters developing on dusky or purpuric macules or atypical target
lesions characterize this eruption. Total percent of body surface area blistering
and eventual detachment is less than 10%.
28. Idiopathic Thrombocytopenic Purpura:
It is common in children and accounts for 90% of the pediatric cases of
immunologic thrombocytopenia. The classic presentation of ITP is that of a
previously healthy 1–4 yr old child who has the sudden onset of generalized
petechiae and purpura. Often there is bleeding from the gums and mucous
membrane, particularly with profound thrombocytopenia (platelet count < 10
× 109 /L). The two commonest differential diagnoses are aplastic anaemia and
malignancy. The physical examination is normal other than the finding of
petechiae and purpura. Splenomegaly is rare.
29. Henoch-Schonlein purpura:
It is also referred to as anaphylactoid purpura, is a distinct systemic vasculitis
syndrome that is characterized by palpable purpura (most commonly
distributed over the buttocks and lower extremities), arthralgias,
gastrointestinal signs and symptoms, and glomerulonephritis. It is a small
vessel vasculitis. Most patients recover completely, and do not require
Fulminant Meningococcemia (Purpura Fulminans) is one of the most rapidly
lethal form of septic shock in children. It differs from most other forms of
septic shock by the prominence of hemorrhagic skin lesions (petechiae,
purpura ) and the consistent development of DIC. Many times the CSF is
clear. It presents as acute onset of purpuric rash in a child with fever. There
may be signs of meningitis. Unless treated urgently with steroids and
penicillin it is fatal.
Urticaria (hives) are transient lesions that are composed of a central wheal
surrounded by an erythematous halo. Individual lesions are round, oval, or
figurate and are often pruritic. The common physical urticarias include
dermographism, solar urticaria, cold urticaria, and cholinergic urticaria
32. Abscess: Brain :
A brain abscess is a focal, suppurative process within the brain parenchyma; it
begins in an area of devitalized brain tissue as a localized area of cerebritis and
develops into a collection of pus surrounded by a well-vascularized capsule.
One organism is cultured in the majority of abscesses (70%), two in 20%, and
three or more in 10% of cases. Abscesses associated with mucosal infections
(sinusitis) frequently have anaerobic bacteria. Clinical signs include non
specific symptoms as fever, letharg during early stage. Later signs of raised
intracranial pressure vomiting, severe headache, seizures and papilloedema
develops. Focal neurological signs is seen subsequently. When the aetiological
agent is not known the combination of a third-generation cephalosporin and
metronidazole is used for 3-6 weeks. A large abscess should be drained
33. Abscess: Lung abscess:
The commonest causes of lung abscess is pneumonia and aspiration. Both
anaerobic and aerobic organisms can cause lung abscesses. The most common
symptoms of pulmonary abscess are cough, fever, tachypnea, dyspnea, chest
pain, vomiting, sputum production, weight loss, and hemoptysis. It is treated
with 2–3 wk course of parenteral antibiotics for uncomplicated cases, followed
by a course of oral antibiotics to complete a total of 4–6 wk. Antibiotic should
include aerobic and anaerobic coverage
34. Abscess: Neonatal mastitis:
Enlargement of breast tissue in new born infants is a common physiologic
hormonal phenomenon. Excessive manipulation can result in secondary
infection. It is treated with systemic antibiotics with advise to avoid further
mani-pulation. Brain abscess following neonatal masttits have been reported.
35. Abscess: Iatrogenic:
Post injection abscess are commonly seen in hospital admitted children. It is
often seen due to the extra venous spoiling of drugs from an i.v canula. This
hospital acquired infection some times difficult to treat because of resistant
microorganism. It may complicate with distant metastasis.
36. Orbital cellulitis:
It can occur at any age or sex. There will be noticeable lid edema and redness,
distention, proptosis, and significant pain upon palpation. Additionally, there
will be diplopia from extraocular motility limitations. There typically will be a
precipitating factor such as penetrating lid trauma, mucormycosis, orbital
medial wall blow-out fracture, severe lid infectious disease, bite wounds,
meningitis, sinusitis and sinus infection, septicemia, ketoacidosis, or dental
abscess. Vision loss and an afferent pupil defect may often be present. The
patient will also be systemically ill and have a fever. The sagital sinus
thrombosis is known complication
37. Pustules: Neonatal:
It contains purulent material. These are commonly seen in neonatal period as
skin infections. Few pustules could be treated with local antibiotics and
regular follow-up. Large and numerous pustules should be treated with
antibiotics for one week, preferably by iv antibiotics.
38. Malar flush
It is commonly seen in children with high fever, polycythaemia and severe
mitral stenosis. Malar fllush with high fever is often seen in typhoid,
pneumonia and pyelonephritis.
39. Malar rash
Patients with systemic lupus erythematosus typically develop a sharply
defined, erythematous eruption in a butterfly distribution on the cheeks (malar
rash). It is also seen in infection caused by the spirochete Borrelia burgdorferi,
Graft versus host disease and impetigo.
40. Malrotation with midgut volvulus
Malrotation is incomplete rotation of the intestine during fetal development
The midbowel (distal duodenum to midtransverse colon) begins to elongate
and progressively protrudes into the umbilical cord until it lies totally outside
the confines of the abdominal cavity. An acute presentation of small bowel
obstruction in a patient without previous bowel surgery is usually a result of
volvulus associated with malrotation. This is a life-threatening complication of
malrotation and the main reason that symptoms suggestive of malrotation
should be investigated. The diagnosis is by ultrasound or contrast radiographic
studies. The abdominal plain film is usually nonspecific but may demonstrate
evidence of duodenal obstruction with a double-bubble sign.
Microcephaly is defined as a head circumference that measures more than
three standard deviations below the mean for age and sex. Although there are
many causes of microcephaly, abnormalities in neuronal migration during fetal
development, including heterotopias of neuronal cells and cytoarchitectural
derangements, are found in many brains. Microcephaly may be subdivided
into two main groups: primary (genetic) microcephaly and secondary
(nongenetic) microcephaly. A precise diagnosis is important for genetic
counseling and for prediction for future pregnancies.
Measles (rubeola) is an important childhood disease which causes high
morbidity and mortality in developing countries. Infants acquire immunity
transplacentally from mothers who have had measles or measles
immunization. This immunity is usually complete for the first 4–6 mo of life
and wanes at a variable rate. The essential lesion of measles is found in the
skin, conjunctivae, and the mucous membranes of the nasopharynx, bronchi,
and intestinal tract. Measles has three clinical stages: an incubation stage, a
prodromal stage with an enanthem (Koplik spots) and mild symptoms, and a
final stage with a maculopapular rash accompanied by high fever. The
incubation period lasts approximately 10–12 days to the first prodromal
symptoms and another 2–4 days to the appearance of the rash; rarely, it may
be as short as 6–10 days. Body temperature may increase slightly 9–10 days
from the date of infection and then subside for 24hr or so. The patient may
transmit the virus by the 9th–10th day after exposure and occasionally as early
as the 7th day, before the illness can be diagnosed.
Often the growth of the mandible will achieve a normal profile within 4–6 yr.
The feeding of infants with mandibular hypoplasia requires great care and
patience but can usually be accomplished without resorting to gavage. Pierre
Robin sequence consists of micrognathia usually accompanied by a high
arched or cleft palate. The tongue is usually of normal size, but the floor of the
mouth is foreshortened. Obstruction of the air passages may occur, particularly
on inspiration, and usually requires treatment to prevent suffocation. The
infant should be maintained in a prone or partially prone position so that the
tongue falls forward to relieve respiratory obstruction.
44. Fifth disease
Anderson and colleagues identified B19 as the cause of erythema infectiosum
or fifth disease in 1983. The incubation period for erythema infectiosum
ranges from 4 to 28 days (average, 16–17 days). The prodromal phase is mild
and consists of low-grade fever, headache, and symptoms of mild upper
respiratory tract infection. The hallmark of erythema infectiosum is the
characteristic rash, which occurs in three stages that are not always
distinguishable. The initial stage is an erythematous facial flushing, often
described as a “slapped-cheek” appearance. The rash spreads rapidly or
concurrently to the trunk and proximal extremities as a diffuse macular
erythema in the second stage. Affected children are afebrile and not ill-
45. Molluscum contagiosum
Discrete, pearly, skin-colored, dome-shaped, smooth papules vary in size from
1–5?mm. They typically have a central umbilication from which a plug of
cheesy material can be expressed. The papules may occur anywhere on the
body, but the face, eyelids, neck, axillas, and thighs are sites of predilection.
Lesions on patients with AIDS tend to be large and numerous, particularly on
the face; exuberant lesions may also be found in children with leukemia and
other immunodeficiencies. Molluscum contagiosum is a self-limited disease;
the average attack lasts 6–9 mo.
It is caused by an RNA virus of the genus Paramyxovirus in the family
ParamyxoviridaeThe incubation period ranges from 14–24 days, with a peak
at 17–18 days. Approximately 30–40% of infections are subclinical. In
children, prodromal manifestations are rare but may be manifest by fever,
muscular pain (especially in the neck), headache, and malaise. The onset is
usually characterized by pain and swelling in one or both parotid glands. The
parotid swells characteristically; it first fills the space between the posterior
border of the mandible and the mastoid and then extends in a series of
crescents downward and forward, being limited above by the zygoma. There is
no specific antiviral therapy; treatment is entirely supportive
Bone-in-bone appearance that is characteristic of osteopetrosis. Most of the
manifestations are due to failure to remodel growing bones. This leads to
narrowing of cranial nerve foramina and encroachment on marrow spaces,
which results in secondary complications, such as optic and facial nerve
dysfunction, and anemia accompanied by compensatory extramedullary
hematopoiesis in the liver and spleen. Skeletal radiographs reveal a
generalized increase in bone density and clubbing of metaphyses.
48. Metaphyseal Chondrodysplasia
It is a rare autosomal dominant disorder of endochondral ossification of long
bones. Clinical diagnosis is based on presence of bowed legs and short stature
during infancy and early childhood. Waddling gait is often the presenting sign
in second year of life. There is marked widening of the joints with expansion
of the long bones of forearms and legs. The biochemical parameters serum
calcium, serum phosphorus, alkaline phosphatase and 24 hrs urinary excretion
of calcium and phosphate are normal.
Only about 10% of retinoblastomas are detected by routine ophthalmologic
screening in the context of a positive family history. Overall, about 60% of
cases are unilateral and nonhereditary, 15% unilateral and hereditary, and 25%
bilateral and hereditary. Bilateral involvement is found in 42% of those
presenting when younger than 1 yr of age but in only 21% of those presenting
during 1 yr of age and is even less common at older ages of
presentation.Retinoblastoma classically presents with leukocoria, a white
pupillary reflex. Case like this is late presentation. Most unilateral disease
presents as a large tumor. Enucleation is undertaken if there is no potential for
50. Neonatal oral thrush
Thrush of the mouth occurs in healthy infants. Transmission of fungi from
maternal vaginal moniliasis to the infant's oral mucosa is the primary means of
infection in healthy newborns. Secondary cases may develop in the hospital
nursery as a result of direct or indirect contact with infected infants,
caretakers, or contaminated supplies.
In rickets, defective bone growth results from retardation or suppression of
normal epiphyseal cartilage growth and calcification. These changes result
from a deficiency of calcium and phosphorus salts in the serum. Cartilage cells
fail to complete their normal cycle of proliferation and degeneration, with
subsequent failure of capillary penetration, which occurs in a patchy manner.
The result is a frayed, irregular epiphyseal line at the end of the shaft. Failure
of osseous and cartilaginous matrix to mineralize in the zone of preparatory
calcification, followed by deposition of newly formed uncalcified osteoid,
results in a wide, irregular, frayed zone of nonrigid tissue (the rachitic
52. Herpes Zoster
Herpes zoster is manifested as vesicular lesions clustered within one or less
commonly two adjacent dermatomes Unlike zoster in adults, zoster in children
is infrequently associated with localized pain, hyperesthesias, pruritus, and
low-grade fever. In children, the rash is mild, with new lesions appearing for a
few days; symptoms of acute neuritis are minimal; and complete resolution
usually occurs within 1–2 wk. In contrast to adults, postherpetic neuralgia is
very unusual in children. In Nepal there is a belief that if faces of tigers are
painted towards the end of vesicles it will not spread.
53. Umbilical sepsis
Although aseptic delivery and routine cord care (daily application of triple dye
to the umbilical stump and surrounding skin) decrease the risk of umbilical
infection, the necrotic tissue of the umbilical cord is an excellent medium for
bacterial growth. Omphalitis may remain localized or may spread to the
abdominal wall, the peritoneum, the umbilical or portal vessels, or the liver.
Infants with abdominal wall cellulitis or those with necrotizing fasciitis have a
high incidence of associated bacteremia. Portal vein phlebitis may develop and
result in the later onset of extrahepatic portal hypertension.
54. Umbilical granuloma
The umbilical cord usually dries and separates within 6–8 days after birth. The
raw surface becomes covered by a thin layer of skin, scar tissue forms, and the
wound is usually healed within 12–15 days. The presence of saprophytic
organisms delays separation of the cord and increases the possibility of
invasion by pathogenic organisms. Mild infection or incomplete
epithelialization may result in a moist granulating area at the base of the cord
with a slight mucoid or mucopurulent discharge. Good results are usually
obtained by cleansing with alcohol several times daily.
Positional anomalies of heart refer to conditions in which the cardiac apex is
in the right side of the chest (dextrocardia), or at the midline (mesocardia), or
in which there is a normal location of the heart in the left side of the chest but
abnormal position of the viscera (isolated levocardia). Knowledge of the
position of the abdominal organs and of the branching pattern of the main
stem bronchi is important in categorizing these malpositions. When
dextrocardia occurs without situs inversus, when the visceral situs is
indeterminate, or if isolated levocardia is present, associated, often complex,
multiple cardiac anomalies are usually present. In contrast, mirror-image
dextrocardia is usually observed with complete situs inversus, which occurs
most frequently in individuals whose hearts are otherwise normal.
56. Goodpastures' syndrome
Goodpastures' syndrome, a disease characterized by lung hemorrhage and
severe glomerulonephritis, represents an example of antibody binding leading
to local activation of complement and neutrophil accumulation and activation.
Early in the disease, it is alveolar in nature, more prominent at the bases and
perihilar regions — simulates pulmonary edema Within 2-3 days, the blood is
absorbed in to the interstitium and the pattern changes to interstitial reticular
By about 10 days, the reticular disease disappears With repeated bleeds, there
is hemosiderin deposit in the lungs and progressive
pulmonary fibrosis occurs.
57. Mitral incompetence
Rheumatic etiology is the commonest cause in developing countries. It takes
several years to develop mitral valvular lesions. The typical symptoms are due
to pulmonary edema and reduced cardiac output. The specific clinical signs
are: displaced apex beat out side the midclavicular line and apical pansystolic
murmur radiating towards the axilla. The chest x-ray shows: enlarged left
atrium, prominent pulmonary conus, enlarged left ventricle making the
straight left heart border and plethoric lung fields.
58. Pleural effusion:
Pleural effusion could be serous, purulent, hemorrhagic or chylous. It could be
unilateral or bilateral. Infections causes unilateral effusion where as bilateral
effusions are due to conditions leading to hypoproteinemia. The commonest
cause of unilateral effusion in Nepal is pneumonia and tuberculosis. The
typical clinical signs are: diminished thoracic movement on the involved site,
fullness of intercostals spaces, dullness on percussion and diminished breath
sounds. PA view of the chest x-ray shows dense uniform opacity in the lower
and lateral part of the hemithorax.
59. Hyperlucent lung
Swyer-James-Macleod Syndrome is a variant of post-infectious bronchiolitis
obliterans that is most commonly the sequela of a viral (adenovirus) infection
during infancy or early childhood. There is a necrotizing bronchiolitis which
damages the terminal and respiratory bronchioles and prevents the normal
development of their alveolar buds. Additionally, fibrosis (the result of the
healing process) results in bronchiolar obstruction that in turn leads to air
trapping. It may also be seen following measles, pertussis, tuberculosis, and
mycoplasma infections . The syndrome is characterized by unilateral
hyperlucency with associated decrease in the size and number of pulmonary
vessels on the involved side. Patients may be asymptomatic, or complain of
recurrent URI's or dyspnea on exertion. Although classically involving an
entire lung, the disorder can be lobar or subsegmental. Although the cxr is
confused with pneumothorax, the trachea is not shifted and the child looks
comfortable. Sharma PR. Swyer-James-Macleod Syndrome. ( Journal of
Institute of Medicine, vol.25, Issue 2, 2003
60. Cystic Hygroma
During developmental period around the sixth week of gestation lymphatic
channels are formed from a series of clefts that develop in the mesenchyme.
From these channels, sacs are formed that establish drainage with the venous
system. Failure to establish venous drainage results in dilated disorganized
lymph channels, which, in the largest form, present as cystic hygromas. The
masses are usually large soft structures without clear margins. The most
important sign is the illumination test.
61. Histiocytosis (LCH)
There are generally first signs of LCH and frequently become manifest as
scaly, erythmatous, seborrhea like brown to red papules, especially
pronounced in inter-triginous zones. Hepatosplenomegaly is the indication of
presence of organ involvement by LCH or it may indicate obstructive disease
caused by enlarged nodes in the porta hepatis. It may also reflect kupffer cell
hypertrophy and hyperplasia as an indicator of generalized activation of the
cellular immune system. Cough, tachypnea/dyspnea, cyanosis, pneumothorax,
or pleural effusion are attributable to the disease rather than to superimposed
infection. Increasing number of cysts form honeycomb lungs and in later
stages large bullae. This child had fever and was pale. The seborrhoeic
dermatitis lesions were seen over scalp and abdomen. He had cervical
lymphadenopathy. Abdomen was soft on palpation with liver 8 cm below
costal margin and spleen 4 cm below costal margin. Preliminary blood counts
show hemoglobin 6.5 gm%, TLC 6300, Platelet count 68,000, DLC N49 L46
M02 My01 MM02.
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres
are absent and replaced by sacs filled with cerebrospinal fluid. An infant with
hydranencephaly may appear normal at birth. The infant's head size and
spontaneous reflexes such as sucking, swallowing, crying, and moving the
arms and legs may all seem normal. However, after a few weeks the infant
usually becomes irritable and has increased muscle tone. After a few months
of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal
fluid in the brain) may develop.
63. Hurler's Syndrome
Gertrud Hurler, 1889-1965, Austrian paediatrician first described this disease.
It is caused by deficiency of the enzyme deficiency alpha-L-iduronidase.
There is excess urinary excretion of dermatan sulphate and heparan sulphate.
Clinically, there is severe mental retardation which is progressive. The
children have a coarse facies, are short statured, have a protruberant abdomen,
hernias, joint contractures and a thoracolumbar gibbus. There is also
hepatosplenomegaly, cardiomyopathy and cardiac failure. Radiologically,
there is a large skull with a J-shaped sella, shallow orbits, beaking and
flattening of the anterior portion of the vertebral bodies at the thoracolumbar
junction, wide, thick ribs, thick clavicles, widening of the shafts of the long
bones with flaring of relatively small iliac wings with acetabular roofs. All the
mucopolysaccharidoses share in common pointing of the bases of the
64. Foreign body aspiration
Foreign body aspiration is common children as they have the habit of keeping
things in the mouth. The commonest material that is reported in the literature
is peanuts. Common symptoms is persistent cough and respiratory distress
(depends upon the type and size of the ingested material). This child presented
with the history of cough for three weeks and persisten tachypnoea. On
examination he had bronchial breath sound in the right infrascapular region.
He was treated with various antibiotics. The chest xray shows the collapse
consolitatin in the right lower zone and CT scan shows the changes. He
coughed out the small piece of olive while in hospital the repeat chest x-ray
shows the cleared previous area.
65. Mangolian Spot:
This is present at birth in more than 80% of Asian infants. Typically there will
be a single lesion rarely multiple can occur. This is an asymptomatic benign
condition which fades during the first one to two years of life. Three to four
percent often persists for life. No melanomas have been reported to occur. No
treatment is required.
66. Monilial diaper dermatitis:
This is common in children below 3 years of age. Candida albicans is the
causative organism. It is usually present in area covered by diaper. Topical
nystatin or clotrimazole is the treatment. No treatment is required.
67. Sternocleidomastoid tumour:
This is due to the bleeding within the sternicleidomastoid muscle caused by the
injury during difficult delivery. The formation of hematoma within the
sternocleidomastoid further damages the muscle causing ischemia. Ultimately the
fibrous tissue replaces the ischemic fibres. This will produce congenital torticollis.
Passive stretching will usually be effective in restoring the range of motion. This
tumours may be present any where in the line of sternocleidomastoid.
68. Congenital lung cysts :
Congenital lung cyst is also a rare condition, which presents in the neonatal
period. It was first described by Stock in 1897. The etiology of this condition
is not known. But it is recognized by the absence of bronchotubular glands and
cartilage and the presence of tall columnar mucinous epithelium. There is
overproduction of luminal bronchiolar structure in the form of cysts of various
size. These present as respiratory distress of various degrees. Sometimes, there
may not be any symptoms for as long as 5 to 6 months. Normally male babies
are affected more often than female.
It is usually unilateral affecting the left upper lobe followed by the right
middle and right upper lobes. Involvement of more than one lobe is rare.
Similarly involvement of lower lobe is also extremely rare. The differential
diagnosis was CLE, congenital diaphragmatic hernia (CDH), pneumothorax
and lung cyst. Chest X-ray of shows hyperlucency on the affected side with
multiple cystic shadows.
69. Congenital lung cysts
Ch'in and Tang first described cystic adenomatoid malformation (CAM) as a distinct
entity in 1949. CAM is a developmental hamartomatous abnormality of the lung with
adenomatoid proliferation of cysts resembling bronchioles. CAM represents
approximately 25% of all congenital lung lesion. CAM is believed to result from focal
arrest in fetal lung development before the seventh week of gestation secondary to a
variety of pulmonary insults. CAM is subdivided into 3 major types.
Type I Type II Type III
Morphology Multiple large cysts or Multiple, evenly spaced Multiple small cysts less
single large cyst cysts not over 1.2 cm than 0.5 cm
Contents Air or fluid Air Solid
Wall Smooth muscle and Terminal bronchioles Adenomatoid
connective tissue hyperplasia or bronchial
· Progressive respiratory distress in a newborn infant
· Tachypnea, subcostal retraction, cyanosis
· Areas of small cysts (<2 cm in diameter) appearing with other abnormalities (a
larger cystic area, consolidation, or low attenuation) are the most frequent
· Multiple large cystic lesions (>2 cm in diameter) are seen alone or with other
abnormalities (areas of small cysts, consolidation, or low attenuation).
· Low-attenuation areas are clusters of microcysts
70. Congenital Diaphragmatic Hernia :
This rare condition is seen in 1:5,000 live births. Commonly it is seen on the
left side. It is often associated with pulmonary hypoplasia and malrotation of
the intestine. It is important to examine these children for other congenital
anamolies. It is often present in trisomies. Most of this condition is diagnosed
due to the presence of severe respiratory distress.
71. Renal Agenesis :
Bilateral agenesis is not compatible with post natal life. Potter phenotype is
the presentation in newborn with the typical facial abnormality. Unilateral
agenesis is often diagnosed during the course of investigation. All newborn
with single umbilical artery should be suspected for renal agenesis. The
contralateral kidney goes into compensatory hypertrophy. Most cases are often
associated with other anamolies. Children are at risk of hypertension and
proteinuria. These IVP and isotopic renogram was from a boy who presented
with persistent hypertension.
72. Cruozon craniofacial dystosis:
This was originally described in 1912 by Crouzon. The commonest
abnormalities is ocular proptosis with or without hypertelorism due to shallow
orbits. The other abnormalities are hypoplasia of maxilla and craniosynostosis.
It is transmitted as autosomal dominant with variable expression.
73. Moya Moya Disease:
It is a rare, progressive cerebrovascular disorder characterized by the
narrowing or occlusion of major blood vessels leading into the brain, and the
formation of abnormal blood vessels called moyamoya vessels. (ie "puff of
smoke") characterizes the appearance on angiography of abnormal vascular
collateral networks that develop adjacent to the stenotic vessels. The steno-
occlusive areas are usually bilateral, but unilateral involvement does not
exclude the diagnosis. Cerebral angiography in this case has shown poorly
opacified intracranial internal carotid artery and its branches. The CT Scan
shows multiple infarcts in bilateral cerebral hemisphere new and old.
This is a clinical condition due to the abnormally raised bilirubin in serum.
Typically the sclera becomes yellowish. As the serum bilirubin increases the
skin also becomes yellow. The various causes could be hemolytic , hepatic or
obstructive. The commonest cause is the infective hepatitis, where the sclera is
mild to deep yellow. The greenish yellow tinge is suggestive of obstructive
75. Biliary atresia
The most common form is the absence of entire extrahepatic biliary tree at or above
the porta hepatis. This results in the absence of bile in the stool that typically results in
raised conjugated bilirubin and clay coloured stool. It is essential to differentiate this
condition from Idiopathic Neonatal Hepatitis. Hepatobiliary scintigraphy using
imidodicetic acid analogs is helpful to differentiate these two conditions. This
scintigraphy shows good intake in liver but no excretion in the intestine.
76. Herpetic Gingivostomatits
It is the commonest form of stomatitis in children. Children present with insidious
onset of high fever preceeding the oral lesions by 1-2 days. The acute phase lasts for
one week. There is no specific treatment. Symptomatic treatment with paracetamol
makes difficult to counsel parent on its self limited course.
This condition is seen in children due to severe malnutrition. As the child fails to gain
weight and looses weight the wrinkles of skin are seen specially over buttock. The
child’s face retain a normal appearance till late. Hairs are sparse. Atrophy of the arm
and thigh muscles are visible easily with distension of abdomen. With proper
nutritional therapy the look completely changes.
78. Acute myeloid leukemia
This rare leukemia in children occurs 5:1000000. Certain genetic disorders predispose
to it e.g. trisomy 21, Diamond-Blackfan anaemia and Fanconi anaemia. Typically it
presents with anaemia, fever, bleeding, hepatosplenomegaly. A localized mass of
leukemic cells (chloroma) may develop at any site as seen in this child. With
aggressive therapy the cure rate is 30-40%.
Xanthoma is exceedingly rare in children aged 10 years or younger. Papular
xanthoma (PX) is a very rare skin disorder. Histologic studies shows diffuse
monomorphous infiltrate of foamy cells in the upper dermis.
It is not a specific disease but complications of many intracranial acquired or
congenital diseases. It results from impaired circulation and absorption of CSF. The
clinical features depends upon the duration and rate of rise of intracranial pressure.
The earliest sign in a child could be enlarging occipitofrontal circumference and the
late sign could be setting sun eye sign as in this child. Long tract signs due to
stretching of the pyramidal tract is also seen.
81. Kayser-Fleischer ring
This finding is seen in due to the abnormal copper deposition in the stromal layer of
limbic region of eye. Kayser-Fleischer rings consist of copper granules in the stromal
layer of the eye. Color changes are visible only in the Descemet membrane and
typically are described as a golden brown, brownish green, bronze, or tannish green
color seen in the limbic area of the eye. The rings fade and disappear with appropriate
therapy. The typical condition is most commonly seen in Wilson’s Disease.
82. Pierre Robin Syndrome
This syndrome consist of micrognothia, glossoptosis and high arch or cleft palate.
One of the most important difficulty the child feels is difficulty in breathing when
lying supine. This is because the tongue falls back causing obstruction over the
pharynx. The infant should be maintained in a prone or partially prone position to
relieve respiratory obstruction. The feeding of infants in this sequence requires great
care. Often the growth of mandible will achieve an essentially normal profile within
83. Meningocele and Myelomeningocele
A meningocele is formed when the meninges herniated through a defect in the
posterior vertebral aches or midline neuraxis. The spinal chord is usually normal.
Myelomeningocele is the severe form of dysraphism more commonly involving the
lumbosacral region but can occur anywhere along the neuraxis. It is covered by thin
layer of partially epithelialized tissue and remnants .
84. Rheumatoid arthritis:
This chronic arthritis due to immunological process involves the large and small joints
of limbs and other parts of body. It is characterized by chronic nonsuppurative
inflammation of synovium. If untreated the joints gets deformed and takes the typical
Swan Neck deformity as seen in the following pictures.
85. Gangrene of limb
Gangrene of limb may be with oedema or without oedema. If it is oedematous mostly
the cause is infective or venous obstruction. If the gangrene is not associated with
oedema then the common causes are vasospastic or thrombo-embolic. Raynauds
phenomenon could be due to collagen diseases, Burger’s disease, cold agglutinin,
cryoglobulinaemia , neurogenic etc.
86. Bladder exstrophy
This rare congenital abnormality is found in every 40,000 births. The severity ranges
from small abdominal fistula to the complete exstrophy of the cloaca resulting in the
exposure of the bladder. In males there is complete epispadias with a wide and
shallow scrotum. Females have wide duplication of the clitoris. Management of this
condition should start at birth by covering the area with a Sialistic shield or another
appropriate plastic dressings and should be urgently transferred to a surgical unit.
87. Carpopedal spasm in tetany
This is the typical sign of peripheral hyperexcitability of motor nerves due to the
spasm of muscle of the wrists. The wrists are flexed , fingers are extended and thumbs
adducted over the palms. The commonest cause is hypocalcemia. In this child it is
secondary to the intake of large amount of fluid containing sodium bircabonate.
88. Subconjunctival haemorrhage
The bleeding in the subconjunctival area remains bright red due to the continuous
oxygenation of the haemoglobin. It may result from trauma or inflammation and may
be unilateral or bilateral. It may occasionally result from whooping cough or bleeding
disorders as thrombocytopenia..
Extreme obesity in children are mostly due to the endocrine or genetic causes or due
to syndromes (cohen and carpenter). This two and half year old child weighed 30 Kg.
One of the complication of this extreme obesity is pickwickian syndrome. In this
syndrome there severe cardiorespiratory distress with alveolar hypoventilation, which
is manifiested by polycythemia, somnolence and features of congestive cardiac
90. Erb-Duchenne paralysis
This condition is due to the injury to the 5th and 6th cervical nerves during birth. The
characteristic positon is adduction and internal rotation of the arm with pronation of
the forearm. The power of the forearm and the hand grasp are usually preserved. The
presence of hand grasp is a favorable sign. Treatment consists of partial
immobilization and appropriate positioning to prevent contractures.
91. Giant congenital pigmented nevi
This rare skin condition is seen in <1:20,000 births. This occurs mostly on the trunk.
This nevi needs special attention as there may be association with leptomeningeal
melanocytosis. If associated with neural melanosis there may be features of mental
retardation with seizures. Management of this condition is controversial however a
team of pediatrician, dermatologist and plastic surgeon should discuss with parents.
In this condition there is collection of fluid in the peritoneal cavity. Clinically it is
diagnosed by eliciting Puddle’s sign, shifting dullness or fluid thrill depending upon
the amount of fluid. In huge collection the diaphragm is pushed up making the child
difficult to lie flat in bed. The prominent veins on the abdominal wall signifies
inpaired venous flow through the portal vein or inferior vena cava . The three
commonest cause are tubercular, portal vein and inferior venacaval obstruction.
93. Cleft lip:
Cleft lip can occur with or without cleft palate. The incidence is 1:600 births.
This incidence is highest amongst Asians due to unknown reason. If it is
associated with cleft palate there is recurrent aspirations and chocking can
occur, often the child fails to thrive. Special teats are available for cleft palate
to feed the child, often orthodontic appliance are needed. Surgical closure of
lip is usually performed by 2 months of age.
94. Rachitic rosary
In advanced rickets the enlargement of the costochondral junctions may become
prominent. In many cases the beading of the ribs is not only palpable but also visible
as in this case. The sides of thorax become flattened and longitutional grooves
develop posterior to the rosary. The sternum with its adjacent cartilages appears to be
projected forward, producing the so called pigeon breast deformity. Harrison’s
groove, which corresponds to the costal insertions of the diaphragm.
95. Inguinal Hernia
It is one of the commonest cause of swelling in the groin. Approximately 50% present
before the age of one year. In children it is the result of persistent patency of
processus vaginalis. Parent often notice this swelling during crying. The treatment of
choice is operative repair. Operation is not indicated in a child with a isolated
hydrocele in tunica vaginalis.
96. Orbital ecchymosis
Head injury is frequently seen in children. This child had injury in baby walker and
large hematoma was developed in the forehead which descended to the eye lids giving
this appearance. Baby walker should not be used for children.
97. Gianotti-Crosti Syndrome
This is a rare, self limited eruption, characterized by the onset of nonpruritic lichenoid
papules. This is commonly seen in face and limb. In this child the site is unusual often
confused with necklace dermatitis (itchy). Physical examination rveals monomorphus
papules, flesh colored, flat topped and 1-10 mm in size. It is self limiting.
98. HIV children
The first cases of AIDS were reported in Nepal in 1988. Surveillance data is scarce in
Nepal. However, limited data indicate that HIV prevalence is currently around 0.5
percent in the general population. As of June 2002, the Ministry of Health (MoH) has
reported 606 cases of AIDS and 2,392 HIV infections. These children were in one of
the medical college who are seropositive
99. Club foot
Talipes Equinovarus is a deformity of the foot which may be congenital or positional.
The cause of congenital is not known. It is considered to be multifactorial.
Conservative methods of treatment include taping and use of malleable splints. Serial
plaster casts are the major nonoperative treatment. Complete correction both clinically
and radiologically should be achieved by three months of age. If surgery is needed it
is done between 6-12 months of age.
100. Nephrotic syndrome:
It is characterized by oedema, proteinuria, hypercholesteraemia and
hypoalbuminaemia. Idiopathic, minimal change histology is the commonest
type. It responds to steroids. First the periorbital swelling is noted and ascites
subsequently follows. The frothy urine signifies massive proteinuria.
101. Muscular dystrophy
The term dystrophy means abnormal growth. Muscular dystrophy term was
first used by Erb in 1891. Duschenne type is the commonest heriditory
muscular disorder. It is sex linked recessive inherited. Gower’s sign is the
typical sign. Cardiomyothy is a constant feature of this disease. The serum CK
is consistently greatly elevated.
102. Lesch-Nyhan Syndrome:
This X-linked condition is due to the defective purine metabolism. In infant
the serum uric acid concentration is in the gouty adult range. It is characterized
by compulsive self-destructive behaviour as seen in this case: chewing of lip
and tongue leading to mutilation. These children may chew their fingers.
Other neurological signs like extrapyramidal choreoathetoid movements,
hyperreflexia, ankle clonus and spasticity of the legs develop.
This condition is due to the deficiency of thyroid hormone either congenital or
acquired. It could be due to the deficiency of iodine , abnormality in thyroid gland or
low thyroid stimulating hormone from hypothalamus. The affected child has the
typical facial appearance as seen bellow. After two weeks of thyroid hormone there is
drastic change in appearance. Often the treatment is continued for life long. Every
neonate with prolonged jaundice should be investigated for hypothyroidism because
mental retardation could be prevented.
Before treatment After two weeks of treatment
It is due to the escape of chyle from the thoracic duct in the pleural cavity. It may be
due to the rapture of thoracic duct due to the surgery or malignancy or congenital
anamolies. The clinical manifestations are similar to the pleural effusion or pyothorax.
The diagnosis is established when thoracentesis reveals a milky white fluid. The
biochemical analysis shows high triglyceride level. The bed side test for chyle may be
done by shaking the chyle with alkali or ether. If it is a chyle it becomes clear.
Embryologically, thymic epithelium is derived from both the ectoderm and the
endoderm of the 3rd & 4th branchial cleft and pharyngeal pouches. Thymoma is a
tumor arising from epithelium of thymus gland. Majority of thymoma looks
histological benign. Usually it follows indolent course in patient surviving for years.
34% of thymomas invades their own capsules, extending to surrounding structures.
Less than 10% behave like invasive epithelial malignancies. Incidence 0.15 cases per
100,000 accounting 0.2 to 1.5% of all malignancies Thymoma constitute about 50%
of anterior mediastenal neoplasm in adult, Lymphoma -25% Peak age of incidence –
4th to 6th decades of life. Children very rarely affected.