Browse the corpus
Walk the evidence base by book and chapter — the raw source passages that ground Ask, Differential, and the rest.
1 passage
Ethylmalonic Encephalopathy in an Indian Boy. 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.