Ethylmalonic Encephalopathy in an Indian Boy.

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.