Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report

Autor:	Rohini Patil, L Umadevi, S Giridhar, M Rathinasamy, Antony J
Rok vydání:	2020
Předmět:	Pediatrics medicine.medical_specialty business.industry Maple syrup urine disease medicine medicine.disease business Metabolic encephalopathy
Zdroj:	International Journal of Contemporary Pediatrics. 7:2072
ISSN:	2349-3291 2349-3283
DOI:	10.18203/2349-3291.ijcp20204054
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::45945428afb60b5da29e6f7481bde256 https://doi.org/10.18203/2349-3291.ijcp20204054 Zobrazit plný text záznamu