A 10-year-old boy presented with a gradually progressiveswelling over his right arm for last 7 years. Examinationrevealed a soft, diffuse swelling measuring 10 × 12 cmover posterior aspect of right arm. The lesion was non-tender and freely mobile over the underlying tissues. Inaddition, he had multiple hyperpigmented macules withserrated margins over the trunk (cafe au lait macules) andmultiple freckle like macules (axillary freckles) in bothaxillae. He also had multiple soft nodules in the skin(mollusca fibrosa) which were widely dispersed over trunkand limbs.Q.A What is the most likely diagnosis?Q.B What other systemic examination is essential?
Slide 2A male infant aged 3 months was broughtwith a maculopapular, erythematous rashwith scaling at the edges distributedsymmetrically over the malar region,forehead, chin and forearms. Heart rate was60/min. Rest of the clinical examination wasnormal.Q. 1 What is the probable diagnosis?
Slide 3A two-month-old male infant presented with progressive swellingover both sides of scrotum, moderate to high fever and listlessnesssince five days. The scrotal skin was reddened, edematous, tense,and shiny. There was an ulcerated lesion of size 5 × 5 centimeterspresent over both sides of the scrotum. The edges of the ulcer wereedematous, reddened, and irregular. The floor had slough, with apurulent, fowl smelling discharge. Both the testes were exposed.Perineal and perianal area was otherwise normal.QA What is the most likely diagnosis?Q B.What is the treatment of choice?
Slide 4Q 1. Describe the 5 gross features.Q 2 What is likely diagnosis?
Two siblings, a girl aged 16 years and a boy aged 14years presented with short stature. On examination theheight of the female child was 105 cms (<5th centile) andthat of male child was 104 cms (<5th centile). Bothchildren had typical leonin facies (prominent eyes,anteverted nares, antimongoloid slant, depressed nasalbridge and posteriorly placed prominent ears), low hairline, short and webbed neck, shield chest, small widelyplaced nipples, cubitus valgus with limited extension ofthe elbows, mild scoliosis, knock knee, flat feet. Boy hadfeatures of hypogonadism. Their mental developmentwas normal and had satisfactory scholastic performance.Other systems were normal. These features are typical ofthose seen in Noonan syndrome.
Slide 5An 8-year-old girl presented with complaints of inability to stand fromsitting position for 3 months and inability to lift her head for one month.Her past, history was insignificant. Examination revealed periorbitalpuffiness, hypertrichosis, papular lesions over skin of hands, wrist andelbow bilaterally. There was genralized hypotonia with a positiveGower’s sign. She had burning sensation and redness on tips of fingers.The dorsum of hands had Gottron’s papules and scaling eczematoiddermatosis. Other systems were normal. Her CPK levels were 953IU,LDH was 4496 IU, SGOT was 450 IU and ESR was 75 mm/hr. ANA wasnegative. The muscle biopsy showed inflammatory changes withperivascular infiltration and occlusion of microvasculture withperifascicular atrophy.Q 1What is the diagnosis?Q 2 What is the treatment ?
Slide 5Answer 1A diagnosis of Juvenile Dermatomyositis was made.Answer 2The patient was treated with prednsiolone and physiotherapy.
Slide 6Q.A six-year-old female child born out ofnonconsanguineous parents with no adverse perinatalevents was noticed to be having abnormal facies withmicrocephaly (head circumference 43 cms; < -3SD),bushy eyebrows meeting in the midline (synophrys)(Fig.1), down-turned upperlips and hypertrichosis andmarked short stature (87.0 cm; < 80% of expected). Herupper segment to lower segment ratio was 1.5 and boneage was also retarded (3 years). There was no limbshortening. Child also had global retardation with recurrentseizures. Examination also revealed hirsuitism andcontractures in all the four limbs. X-ray skull excludedcraniosynostosis. Growth hormone assay was not done.
Slide 6 AnswersAns 1:The condition is characterized by microcephaly,bushy eyebrows meeting in the midline (synophrys),hypertrichosis, marked short stature and variablemental retardation and limb abnormality. Hirsuitism isusually seen in most of the patients. There is no fixedpattern of inheritance described. However, in some ofthese patients duplication of long arm of chromosome 3has been described.Ans 2: Clinical diagnosis of Cornelia De LangeSyndrome was entertained.
Slide 7 QA 7 days old male neonate from an orphanage, presentedwith loose stools. On examination, he had flattenedocciput, prominent coronal suture, hypertelorism,depressed nasal bridge, antimongoloid slant, maxillaryhypoplasia and small nose (Fig.1). Examination of oralcavity revealed cleft of soft palate (Fig. 2). Syndactyly ofboth hands with complete fusion of 2nd, 3rd, 4th and 5thfingers with broad distal phalanx of thumb and syndactylyof all toes were other prominent features. The fusedfingers and toes had separate nails. There were no otherskeletal deformities and his fundus examination wasnormal. Cardiovascular system examination revealed asystolic murmur over the pulmonary area. Hisneurosonogram and ultrasonogram abdomen were normalbut echo cardiogram showed an atrial septal defect.
Apert syndrome was first described by Eugene Apert in 1906as a triad of craniosynostosis, syndactyly and maxillaryhypoplasia. It is an autosomal dominant disorder but majorityof cases are sporadic and associated with older paternal age.Apert Syndrome is characterized by irregularcraniosynostosis, mid facial hypoplasia, syndactyly, broaddistal phalanx of thumb and big toe. Mutations in the fibroblastgrowth factor receptor 2 gene which maps to chromosome10q 25 – 10q 26 cause Apert Syndrome. Majority of patientshave mental retardation. Agenesis of corpus callosum,progressive hydrocephalus and hippocampal abnormalitiescan occur in children with Apert Syndrome. Early surgery forcraniosynostosis is indicated when there is evidence ofincreased intracranial pressure. When the thumb isimmobilized, early surgery should be done to facilitate pincergrasp.
A 7 year old male child was brought with a largecephalhematoma following a trivial injury. It occupied rightoccipito-parietal region of the scalp. He had hyperextensibleskin and hypermobile joints.The thin elastic skin had cigarettepaper scars evident over the knee joint and shin of the tibia(Fig.1). He had marfanoid features, arachnodactyly, widelyspaced eyes, a prominant nasal bridge, epicanthal folds,frontal bossing, but no cataract or lens dislocation. There wasno gastrointestinal bleeding and the cardiovascular systemwas normal. There was no similar family history or history ofconsanguinity.
Ehler-Danlos syndrome (EDS) is a group of generalizeddisorder of connective tissue characterized by fragility of theskin and blood vessels, hyperextensibility of the skin andjoint hypermobility and poor wound healing with atrophicscarring. At least 10 types have been defined. Thesyndrome may be inherited as an autosomal dominant,recessive or X linked recessive trait. This child had thecharacteristics of Type VI which presents with marfanoidfeatures, bleeding from wounds, scoliosis and delayedmotor development.Genetic counseling is important for this inherited disorder.Ascorbic acid diminishes bruising, improves wound healingand muscular strength in some types such as types II andIV. Bleeding is managed conservatively. Cosmetic surgerymay help for ugly scars. The patient should be protectedfrom sun exposure and trauma.
A 4-year-old boy born to non-consanguineous parentswas diagnosed to have achondroplasia by antenatalultrasound. At birth, clinical examination revealed a termbaby with large head, prominent forehead, depressednasal bridge and short upper and lower limbs. His birthweight was 3 kg, length 47 cm and head circumference 40cm. He also had mild hypotonia and short thoracic cage atbirth. He had been followed up with serial headcircumference measurements during infancy (Fig.1). Atthe age of 8 months he had rapidly increasing headcircumference with wide and bulging anterior fontanel. Acranial ultrasound performed at that time revealed dilatedlateral and third ventricles. A ventriculo peritoneal shuntwas done at 8-months of age. Now, at the age of 4 years,his height is 75 cm (height age 1 year) and headcircumference is 52 cm. His mental development andintelligence is normal for his age.
Slide 9Q 1 Describe 3 features and complicatios.Q 2 How it is inherited?
Achondroplasia is the most common chondrodysplasia occurring with thefrequency of 1 in 15,000. It is an autosomal dominant disorder, butmajority of the cases represent a fresh gene mutation. Older paternal ageis a contributory factor. Children with achondroplasia have short stature,megalencephaly, small foramen magnum, depressed nasal bridge,prominent forehead and short limbs. The limbs shortening is greatest inthe proximal segments and the fingers display a trident configuration.They have mild hypotonia and slow motor development but intelligence isusually normal. Prominent skeletal features are small cuboid shapedvertebral bodies with progressive narrowing of lumbar interpediculardistance and short tubular bones especially humerii. Hydrocephalus isone of the neurological complications that can occur in these children.Hence it is recommended that head circumference should be measuredthroughout infancy and plotted against norms published forachondroplastic individuals. Ultrasound studies of the brain should beconsidered if the fontanel size is large and head circumference increasesrapidly. Mutation in the gene encoding fibroblast growth factor receptor 3located at 4p16.3 has been shown to cause achondroplasia.
Slide 10 A 4-month-old product of non- consanguineous normal parents presented with three days history of recurrent seizures. Convulsions were of mixed type consisting of three to four episodes of generalized seizures interspersed with fifteen to twenty episodes of infantile spasms in a day. Examination revealed a normal weight baby with normal head circumference. Skin examination revealed three hypopigmented macules resembling ash leaves. Two were on low back and one was on anterior aspect of right shoulder.
Slide 10Q 1 What are the lesions called?Q 2 What is the most likely diagnosis?Q 3 How it is inherited?
CT scan head revealed multiple subependymal tubersinvolving wall of frontal horn and body of lateral ventricle.There was evidence of calcification in the wall of lateralventricle. EEG was suggestive of mixed seizure disorder. USGabdomen and Echocardiography were normal. Child wasstarted on Sodium Valproate with significant control inseizures.Tuberous sclerosis is an autosomal dominant neurocutaneoussyndrome with an incidence of 1:30,000. Bourneville andBrissaud first described it in 1880. Hypopigmented maculesare seen in 50% of <2 year old. Rest of the clinical features likeadenoma sebaceum, shagreen patches and sub ungualfibromas make their appearance latter in childhood. Prognosisfor seizure control and mental retardation is guarded. More thenumber of tubers as was in this child, worse is the intellectualdevelopment.
Hyperpigmented lesions like giant con-genital nevus (GCN) (thelargest diameter greater than 20 cm) are very rare. This babyhad many nevi on various parts of the skin covering about 30%of surface area. The largest nevus covered large part of leftcheek, left ear pinna, left temporal area of scalp, neck, anteriorpart of chest, and a large portion of back and measured 32 cm incircumference and 20 cm in highest width. There were manysatellite lesions scattered over scalp, trunk, and limbs (Fig. 1).All lesions were black colored and had well defined, and raisededges. The surface of the largest lesion was rough and nodularat places. Some leisons had smooth surfaces also. Hair werepresent at surface of some lesions at the back. Other physicalexamination was normal except a lacerated wound in front of leftear that resulted from application of forceps. There was noevidence of clubfoot, meningomyelocele, or any other congenitalanomaly. Histopathological find-ings were consistent with giantcongenital melanocytic nevus (compound type).
The management of this condition is controversial. The best isto have complete excision but when such a large part of theskin is involved, partial removal of superficial nevus cells bydermabrasion, laser therapy, curettage, or shave excision isless traumatic than excision surgery and produces acceptablecosmetic result. However, presence of neural melanosismakes these efforts futile. Further, none of these techniquesor excision of GCN to superficial fat completely removes therisk of malignant melanoma transformation. The overallincidence of malignant melanoma arising out of GCN isestimated to be approximately 5-10% and 50% of thesetransformations occur by the age of 5 years.
Slide 12Q1.What is seen in picture?Q2. Likely diagnosis.
A 2-month-old girl was brought with swelling on thedorsum of both hands and feet. She was born tonon-consanguineous parents, by normal vaginaldelivery. There were no adverse antenatal orperinatal events. The salient features onexamination were non-pitting edema of distal partsof the extremities, webbing of the neck, a low hairline and widely spaced nipples. These classicalmanifestations prompted a clinical diagnosis ofTurner syndrome. Chromosomal studies confirmedthat the propositus had a 45, X0 karyotype.Investigations excluded coexistent cardiac or renalanomalies.
The incidence of Turner syndrome is estimatedto be 1 in 8000 live births. Poor development oflymphatic channels in fetal life is implicated inthe causation of abnormalities of the ears, shieldchest, lymphedema and coarctation of arota.Bicuspid aortic value (50%) and coarctation ofaorta (20.6%) are the common cardiacanomalies associated with Turner syndrome.Other abnormalities that have been describedinclude ectopic kidney, abnormal renalvasculature, double collecting system, primaryhypothyroidism (10-30%) and scoliosis.
Spontaneous pubertal development and menses, as aconsequence of residual ovarian function, have been observedin 20-25% and 2-5% of patients with Turner syndrome,respectively. Nearly 30 pregnancies in sponta-neouslymenstruating women with Turner syndrome have beenreported.It is important to recognize patients with Turner syndrome atan early age to ensure optimal physical growth. Developmentof secondary sexual characteristics can be improved withhormone replacement therapy.
Slide 13Q.1 What is the diagnosis?Q.2 What is high risk factors ?
A full term male newborn was delivered vaginally with lowerlimb deformities. The mother was a non-diabetic primigravida.The deformities were in the form of hyperextension of thelower limbs, club foot, hypoplastic femur and tibia . The babyhad motor and sensory neurological deficit in the form of lowermotor neuron paraplegia and absent anal reflex. There was noimperforate anus but it was malposed. There were two sinuseson either sides of the buttocks. There was no other neural tubedefect or renal abnormalities on sonography.
Caudal regression syndrome, also known as caudaldysplasia or sacral agenesis syndrome is a congenitalmalformation characterized by various degrees ofdevelopmental failure involving legs, lumbar, sacral andcoccygeal vertebra, and corresponding segments of spinalcord due to defect in neuralisation. This results in motor andsensory deficits. Other congenital anomalies such asgastrointestinal, genito-urinary or congenital heart diseasemay be present. A history of maternal diabetes is obtained in16% of such infants.