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.