ICNC Abstracts, ICNC 2018

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EPEMA (encephalopathy,petechiae and ethylmalonic aciduria) – a case series.
KAPIL JETHA, Vykuntaraju K Gowda, Varun M Srinivas, Meenakshi Bhat, Maya Bhat, Christopher Rita, Asha Benkappa

Last modified: 2018-09-15

Abstract


Introduction:EPEMA is autosomal recessive neurometabolic disorder affecting multiplesystems and presents in infancy with developmental delay, acrocyanosis, petechiae,chronicdiarrhoea. Defect lies in ETHE 1 gene,located on chromosome 19q13.Methods:This is a retrospective analysis of clinical profile,laboratory and radiological data offour children with EPEMA who presented to us from Jan 2015 to April 2018.Results:Age at diagnosis ranged from 16months to 108months. All had developmentaldelay,recurrent petechiae,failure to thrive and microcephaly. Three had chronic diarrhoea.Two had recurrent encephalopathy requiring admission. One had regression of milestones.One had acrocyanosis. All were product of consanguineous marriage.Three had significantfamily history. Two had seizures;one had perinatal insult. All except one were hypotonicwith brisk reflexes. Arterial blood gas showed high anion gap metabolic acidosis andelevated lactate in two. TMS was done in all and was abnormal in one child,showingelevated C4 carnitine. Urinary GCMS done in two showed increased excretion ofethylmalonic acid,isobutyryl glycine,2 methyl butyryl glycine and isovaleryl glycine. MRIbrain was characterstic,showed bilateral patchy symmetrical hyperintensities in caudate andputamen in all with involvement of thalamus in three and dentate nuclei in one. Genetictesting in two children revealed homozygous mutation in ETHE 1 gene. Parents were foundto be carrier of mutation.Conclusion:EPEMA should be considered in any child presenting with classical clinicalfeatures and neuroimaging showing b/l symmetric patchy striatum and thalamicinvolvement. Emphasis should be made on early clinical and radiological diagnosis,genetictesting and prenatal counseling.

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