| Literature DB >> 27771676 |
Sunita Bijarnia-Mahay1, Deepti Gupta, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, I C Verma.
Abstract
BACKGROUND: Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. CASE CHARACTERISTICS: 4-year-old boy with developmental regression, chronic diarrhea, petechial spots and acrocyanosis. MRI brain showed T2W/FLAIR hyperintensities in bilateral caudate and putamen. Abnormal acyl-carnitine profile and metabolites on urinary GC-MS analysis suggested the diagnosis. INTERVENTION: Sequencing of ETHE1 gene revealed mutations: c.488G>A and c.375+5G>T (novel). MESSAGE: EE is clinically-recognizable disorder with typical clinical features.Entities:
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Year: 2016 PMID： 27771676 DOI： 10.1007/s13312-016-0959-0
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411