Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.
We conducted this study to assess the efficacy of intermittent short course therapy in all forms of pediatric tuberculosis using a coordinated approach with Revised National Tuberculosis Control Programme (RNTCP). Sixty five children were treated using RNTCP protocols with some modifications, such as dose adjustments or prolongation of treatment in selected children. Overall response rate was 95%(pulmonary 94% and extra pulmonary 97%). There was one case with possible relapse. With dynamic inputs from both the treating pediatrician and personnel from Directly Observed Treatment Short course (DOTS) centers, we could successfully implement RNTCP protocols in childhood tuberculosis.
Objective: To describe the clinical profile, immunological status and outcome of BCG disease in infants. Methods: All infants with a diagnosis of BCG disease in a period of 17 months were followed up. Results: Among 25 infants with BCG disease; 19 had local/ regional involvement and 6 had suspected or confirmed distant/disseminated disease, Mean (range) age of presentation was 3.6 (1.5-9) months. Two of 6 infants with disseminated disease required second-line anti-tubercular treatment. One infant with confirmed disseminated disease had INF γ R1 receptor deficiency. There was no mortality. Conclusion: Most infants with BCG-related disease have local or regional disease.
Congenital Nephrotic Syndrome (CNS) with adrenal calcification and CNS with congenital heart disease (CHD) have rarely been reported. However, CNS with both these rare associations has never been previously reported. Here we report a case of CNS with both rare associations, perhaps the first report from India to the best of our knowledge.
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