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Clinical Heterogeneity in Ethylmalonic Encephalopathy

Department of Pediatrics, Université de Sherbrooke, Quebec, Canada

Philippe M. Campeau, MD

Department of Human Genetics, McGill University, Montreal, Quebec, Canada, philippe.campeau{at}mail.mcgill.ca, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

Denis Cyr, MSc

Medical Genetics Service, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada

Bernard Lemieux, MD

Medical Genetics Service, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada

Joe T. R. Clarke, MD, PhD

Medical Genetics Service, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada, Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada

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

Key Words: ethylmalonic encephalopathy • ETHE1 • inborn error of metabolism

This version was published on August 1, 2009

Journal of Child Neurology, Vol. 24, No. 8, 991-996 (2009)
DOI: 10.1177/0883073808331359


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