Renal artery stenosis: An unusual etiology of hypertensive encephalopathy in a child with fanconi anemia.

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.

Acute Disseminated Encephalomyelitis in a Child Following Plasmodium vivax Malaria.

Acute Disseminated Encephalomyelitis (ADEM) is a multifocal, monophasic, acute demyelinating disease of the brain and spinal cord, which is commonly preceded by viral infections and occasionally bacterial infections or immunizations. Its occurrence following malarial infection, especially Plasmodium vivax Malaria is very uncommon. We report an 11-year girl who presented with clinical features of encephalopathy and generalized convulsions, 10 days following complete recovery from the Plasmodium vivax Malaria. Diagnosis of ADEM as a complication of Plasmodium vivax Malaria was made based on acute onset of neurological events, characteristic findings on Magnetic Resonance Imaging (MRI) of brain and prompt response to corticosteroid therapy. Follow-up MRI, 6 months after discharge, showed complete resolution of change found on the initial MRI. To the best of our knowledge, only two such cases have been reported in the English literature till date.

Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome.

The hyper-immunoglobulin E (IgE) syndrome (HIES), also known as Job's syndrome is a rare primary immunodeficiency characterized by the clinical triad of recurrent staphylococcal abscesses of skin, recurrent cyst-forming pneumonia, and an elevated serum IgE level of > 2000 IU/ml. Although, most cases are sporadic, families with autosomal dominant (AD-HIES) and recessive (AR-HIES) traits have been reported. Very few articles were published previously on central nervous system abnormalities with definite neurologic manifestations which may vary from partial facial nerve paralysis to hemiplegia in children but Acute Disseminated Encephalomyelitis (ADEM) in a child with HIES hitherto has not been reported. Here we describe a 5-year-old male child with HIES who presented with neurologic manifestations of ADEM.

Intraosseous pseudotumour in a child with mild hemophilia B: report of a rare case and brief review of literature.

Hemophilic pseudotumor is a rare, but well-known, complication of hemophilia occurring in 1-2 % of individuals with a severe factor VIII or IX deficiency. The hemophilic pseudotumor is defined as an encapsulated hematoma that increases of volume progressively by episodes of recurrent hemorrhage; usually originate in soft tissues or in subperiosteal or intraosseous areas. Very seldom, patient with mild form of hemophilia present with intraosseous pseudotumor. This report describe an 11-year-old boy with mild factor IX deficiency (17 % of normal factor IX activity), who developed a pseudotumor of the femur.

Tuberous sclerosis presenting with hemorrhagic stroke.

BACKGROUND: Incidence of intracerebral hemorrhage in patients with tuberous sclerosis is rare, and in most of the cases it is associated with either underlying cerebrovascular malformation or hemorrhage into the subependymal giant cell astrocytoma. CASE CHARACTERISTICS: A 2-year-old boy presented with a hemorrhagic stroke, and subsequently diagnosed as a case of tuberous sclerosis. OBSERVATION: Detailed work-up for stroke did not reveal any definite etiology. OUTCOME: Weakness gradually improved. Follow-up neuroimaging showed resolution of hemorrhage. MESSAGE: Clinician must be aware regarding this rare presentation of tuberous sclerosis.

Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.

Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.

Nasal hemophilic pseudotumor: favorable response to radiotherapy.

Hemophilic pseudotumors are rare but dangerous complications of Hemophilia. We hereby report a 3-year-old boy with Hemophilia B, presenting with nasal pseudotumor, showing favorable response to radiotherapy after unsuccessful treatment with factor IX replacement therapy. The diagnosis and treatment of this rare condition is also reviewed.

Massive pericardial effusion as the only manifestation of primary hypothyroidism.

Small pericardial effusion (PE) is not an infrequent manifestation in primary hypothyroidism. But massive PE with or without cardiac tamponade is rare and often associated with severe form of the disease. Here we report an eight-year-old boy who was admitted with massive PE that required repeated pericardiocentesis. Detailed examinations failed to identify the etiology initially. Five months later, child was readmitted with massive PE with impending cardiac tamponade. Primary hypothyroidism was diagnosed based on the clinical and laboratory finding and was thought to be the underlying etiology of previously encountered undiagnosed massive PE. Beside pericardiocentesis, child was treated with thyroid hormone replacement. Condition gradually improved without further recurrence of PE till date. Therefore, irrespective of the presence of clinical signs, primary hypothyroidism should be suspected in every patient presenting with massive PE to prevent recurrence as well as its serious complications like cardiac tamponade.