Clinical Heterogeneity in Ethylmalonic Encephalopathy

• DOI: 10.1177/0883073808331359
• Publication Date: 2009-03-17T01:37:04Z
• Authors: Nicole Pigeon; Philippe M. Campeau; Denis Cyr; Bernard Lemieux; Joe T. R. Clarke
• Keywords: Neonatal Encephalopathy; Spastic quadriplegia; Splenium

Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, chronic diarrhea. We describe monochorionic twins presenting with hypotonia in infancy diagnosed ethylmalonic on the basis biochemical findings. They are compound heterozygote for missense mutations ETHE1. Magnetic resonance imaging changes affecting white matter, corpus callosum, basal ganglia were seen both patients. At 10 years age, they have severe axial but never displayed or Their clinical courses differ markedly; one had an episode coma when she was 3 old now has spastic quadraparesis cannot speak. The other can freely use her upper extremities, pyramidal syndrome being mostly limited to lower speak 2 languages. These patients illustrate heterogeneity encephalopathy, even twins.