We report a 17 day old boy, who developed progressive encephalopathy, after an apparent period of normalcy. Magnetic resonance imaging showed diffusion restriction in myelinated areas like, a pattern suggestive of maple syrup urine disease. Dried blood spots for tandem mass spectrometry and urine for gas chromatography mass spectrometry confirmed elevation and excretion of branched chain amino acids respectively. After peritoneal dialysis, baby improved but continued to have residual neurological deficit, in spite of MSUD-specialized diet. Molecular studies confirmed the diagnosis. This report highlights the need for early identification of these infants to optimize neurological outcomes.
Background: Girls in the country are found to be at a higher risk of malnutrition and growth retardation. Status report of 'Save the Children' highlighted that India is having largest gender survival gap in the World. Aim of the study was to study the nutrition, education and immunization profile of children visiting tertiary care centre, to know gender preference is there or no. Methods: A descriptive study was conducted in, CHRI for a period of 6 months, where parents of all Children aged 5 -15 years were subjected to questionnaire regarding the education, immunisation and socio economic status in a predesigned proforma and their nutritional status was assessed using the anthropometric measurements and clinical examination. Results: Out of 1020 children the proportion of boys (49%) and girls (51%). The proportion of fully immunized children in females (63.1%) compared to males (70.4%). The proportion of male children going to government and private schools was 12.4% and 87.6% respectively and 10.8% and 89.2% respectively in females. The proportion of underweight children in males (5.2%), compared to females (4.2%). Conclusions: There was no there was no gender preference with regard nutritional, immunisation or educational status of the children.
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