A 9-year-old girl, diagnosed case of Fanconi anemia, presented with generalized convulsion with altered sensorium. She had fever, severe pallor, sinus tachycardia, blood pressure of 180/120 mmHg in both upper and lower limb, pan-systolic murmur of grade 2/6, abdominal bruit and bilateral papilledema. A provisional diagnosis of hypertensive encephalopathy was made and managed with continuous labetalol infusion. Detailed evaluation including magnetic resonance angiography of renal artery detected underlying atrophic and non-functioning right kidney secondary to severe renal artery stenosis on the same side. She was started with multiple antihypertensives, but her blood pressure was maintained poorly. Later on, she underwent rightsided nephrectomy. Following surgery, she was doing well and maintaining normal blood pressure without any antihypertensives. Our child is the second reported case of Fanconi anemia associated with renal artery stenosis presenting with hypertensive encephalopathy.

Berardinelli-Seip Congenital Lipodystrophy( BSCL)

Hemoglobin E heterozygotes (Hb AE)

Stickler syndrome is a rare genetic connective tissue disorder (incidence 1 in 7500 births) related to mutations in the collagen genes. One out of 4 patients with Stickler syndrome has a Pierre Robin sequencedetected at birth by a combination of retrognathia, micrognathia, cleft palate and retroglossoptosis. Ocular abnormalities, craniofacial anomalies, bone and joint symptoms and hearing loss are the main manifestations of Stickler syndrome. Early onset osteoarthritis with a prevalence of 15% before 20 years of age and 75% after 50 years of age presents with a variety of features including metaphyseal-epiphyseal dysplasia with broadening and stiffness of joints, pronated feet and moderate arachnodactyly-all of which were present in the 40 day old male infant that we are reporting. The unusual occurrence of arthropathy involving bilateral knee and shoulder joints with stiffness and broadening of affected joints detected so early in life, has not been reported so far to the best of our knowledge. This baby also presented with megalocornea and glaucoma together with other phenotypic abnormalities specific for Stickler syndrome. The early recognition of arthropathy and ophthalmopathy in the neonatal period in association with features of Pierre Robin sequence helped us to make the diagnosis of Stickler syndrome by 45 days of age. The idea of reporting this case is not only to make the pediatrician aware about the probability of diagnosis of Stickler syndrome in a newborn with Pierre Robin sequence as also to stress the need for regular follow up by an ophthalmologist and a test of hearing soon after birth and audiograms at diagnosis and at regular follow-ups. Regular monitoring from early infancy and through the teens for the above-mentioned problems with prompt interventions will go a long way in improving the quality of life in children with Stickler syndrome.

A 9 year old girl presented to us with a history of sudden onset left sided hemiparesis. Neurological examination revealed an upper motor neuron type of left facial nerve palsy, episodes of dystonia involving left upper and lower limbs and an extensor plantar response on the left side. The girl showed several adventitious movements such as choreiform movements involving the whole of the left upper extremity and the distal left lower extremity. Additionally, facial tics causing a grimacing facies were seen off and on. Interestingly, a mitral regurgitation murmur was discovered on routine clinical examinations and confirmed by echocardiography. With this background and a past history of acute tonsillitis 3 years back, we got two Anti-Streptolysin O (ASO) titres done 3 weeks apart which were markedly elevated and showed a rising titre; 406 IU/L and 815 IU/L respectively. The girl was started on oral prednisolone ,oral penicillin and oral haloperidol and she responded dramatically within 5 days. Stroke syndrome, as a cause of the acute hemiparesis, was ruled out by neuroimaging (MR-angiography). The clinical profile of our case fulfilled all the diagnostic criteria for " Pediatric Autoimmune Neuro Psychiatric Disorder Associated with Streptococcal infections" (PANDAS). But here, we are reporting not just another case of PANDAS, but one with a unique difference: the association of complete hemiparesis with PANDAS.