Nutan Kamath

Thrombocytopenia in Hepatitis A—An Atypical Presentation

Acute hepatitis due to hepatitis A virus (HAV) is usually a benign self-limiting disease during childhood. Autoimmune manifestations are rare with acute HAV, especially in children. We report an 8-year-old boy with severe thrombocytopenia as an initial manifestation of acute HAV infection. Bone marrow examination suggested peripheral destruction of platelets. His clinical course was complicated by persistent severe thrombocytopenia and progressive cholestasis requiring prednisolone therapy.

Chromobacterium violaceum septicemia.

Chromobacterium violaceum is an extremely rare human pathogen. We report a rare case of septicemia with multiple abscesses and otitis media in a newborn caused by chromobacterium violaceum.

Recurrent and novel GLB1 mutations in India.

GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-d-galactosidase. In this study, we report molecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic sequences of GLB1 gene. We identified 33 different mutations (20 novel and 13 previously reported). The novel mutations include 12 missense (p.M1?, p.E129Q, p.G134R, p.L236P, p.G262E, p.L297F, p.Y331C, p.G414V, p.K493N, p.L514P, p.P597L, p.T600I), four splicing (c.246-2A>G, c.397-2A>G, c.552+1G>T, c.956-2A>G), three indels (p.R22Qfs*8, p.L24Cfs*47, p.I489Qfs*4) and one nonsense mutation (p.Q452*). Most common mutations identified in this study were c.75+2InsT (14%) and p.L337P (10%). Known mutations accounted for 67% of allele frequency in our cohort of patients, suggesting that these mutations in GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, β-domain 1 and β-domain 2. In silico sequence and structure analysis of GLB1 reveal that all the novel mutations affect the function and structure of the protein. We hereby report on the largest series of patients with GM1 gangliosidosis and the first from India.

TRANSIENT MYELOPROLIFERATIVE DISORDER AND EOSINOPHILIC PERICARDIAL EFFUSION IN A DOWN SYNDROME NEONATE

Transient myeloproliferative disorder seen in neonates with Down syndrome is often thought to have a benign course. The authors describe the clinical and laboratory profile of a neonate with Down phenotype and transient myeloproliferative disorder with pericardial effusion as co-morbidity. Pericardial fluid analysis showed eosinophils. Pericardial effusion resolved with prednisolone therapy. Regression in hepatosplenomegaly with clearance of blasts was seen by third week of illness. The clinical course suggested a benign infiltration of the pericardium. Presence of eosinophils supports the differentiating capability of the blast cells in transient myeloproliferative disorders.

Mediastinal enteric cyst in a neonate

Mediastinal enteric cysts are relatively uncommon, and patients tend to present at a later age compared to those with duplications in other areas of alimentary canal. The tendency of enteric cyst to enlarge and produce airway obstruction is sufficient reason for early surgical removal. We report on a case of mediastinal enteric cyst in a neonate with respiratory distress for its early presentation and management. The embryological basis and anatomical issues relating to duplication cysts of the gastrointestinal tract is discussed.

Henoch–Schonlein purpura: An update

Abstract Henoch–Schonlein purpura (HSP), the commonest childhood vasculitis, is characterised by non-thrombocytopaenic palpable purpura, arthritis or arthralgias, gastrointestinal and renal involvement. The peak incidence is between the ages of 4 years and 8 years with a male preponderance. Though the diagnosis is usually clinical, a tissue biopsy revealing leucocytoclastic vasculitis is helpful when the presentation is atypical. Renal involvement in the form of an immune complex glomerulonephritis is the most serious long-term complication. The aetiopathogenesis, classification, clinical features, relevant Indian data, and a stepwise management approach with corticosteroids and immunosuppressive agents per the renal histology are discussed.

The emergence of Kawasaki disease in India and China

Kawasaki disease (KD) is recognized as a leading cause of acquired heart disease in children in developed countries. Although global in distribution, Japan records the highest incidence of KD in the world. Epidemiological reports from the two most populous countries in the world, namely China and India, indicate that KD is now being increasingly recognized. Whether this increased reporting is due to increased ascertainment, or is due to a true increase in incidence, remains a matter of conjecture. The diagnosis and management of KD in developing countries is a challenging proposition. In this review we highlight some of the difficulties faced by physicians in managing children with KD in resource-constrained settings.

Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a case of PA in an infant who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis. The biochemical basis of severe hyperammonemia is discussed.

Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and bifid hallux.

Introduction Dandy–Walker malformation (DWM), consisting of the triad of cystic dilatation of the fourth ventricle, cerebellar vermian hypoplasia and hydrocephalus, was first described in 1887 by Sutton. Since then the association of DWM with polysyndactyly together with other systemic and central nervous system anomalies have been designated as specific syndromes, often with overlapping features. We report a case of DWM, occipital meningoencephalocele, meso-axial polydactyly (PD) and bifid halluces with distinct radiographic and neuroimaging features.

A Rare Case of Fetus within a Fetus.

We present a case of a 45-day-old baby brought to our paediatric outpatient department with complaints of abdominal distension. The prenatal ultrasonographic examination showed a large cystic intrabdominal mass with internal calcifications.