Indian journal of pediatrics
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To determine the epidemiology and outcome of sepsis in children admitted in pediatric intensive care unit (PICU) of a tertiary care hospital. ⋯ The presence of septic shock and MODS is associated with high mortality in the PICU of developing countries.
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A term baby developed hypoventilation on day 1 of life requiring mechanical ventilation and had subsequent difficulty in weaning. Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. ⋯ The baby was tested for Paired-like Homeobox 2B (PHOX2B) gene mutation and was found to have expanded alleles containing 10 polyalanine repeats producing genotype of 20/30 on chromosome 4p12 (The normal being 20/20). This is the first report of a neonate from India with genetically confirmed CCHS.