Ethylmalonic encephalopathy masquerading as malabsorption syndrome - A case report

•Ethylmalonic encephalopathy is characterized by developmental delay, ecchymotic patches, acrocyanosis with chronic diarrhea.•It is under reported because of early infantile mortality and clinical manifestations mimicking common illnesses of the infancy.•We are reporting a case diagnosed lately at an age of 4 years and succumb to illness at 6 years despite of available treatment options.•Previously reported pathogenic variant c.488G > A (p.Arg163Gln) in exon 4 was identified in ETHE1 gene in the child.•We have not only identified the mutation but also able to offer prenatal testing in the subsequent pregnancy.

Ethylmalonic encephalopathy (EME) is a rare autosomal recessive inherited metabolic disease characterized by developmental delay, ecchymotic patches, and acrocyanosis with chronic diarrhea. We report a first case of EME from India who primarily presented with chronic diarrhea since early infancy and developmental delay. Mutation analysis of ETHE1 showed presence of a previously reported homozygous mutation in exon 4 confirming the diagnosis. She was started on riboflavin, CoQ, carnitine, metronidazole and N-acetyl cysteine with improvement in diarrhea but neurological features continue to progress. Prenatal diagnosis was performed in the next pregnancy. Though, EME is a devastating inherited metabolic disorder with mortality usually in early infancy, here we have reported a case presented as late as at 4 years. A high index of suspicion followed by specific molecular diagnosis not only ends the diagnostic odyssey but also ensures prenatal diagnosis in the future pregnancies.