Clinical Heterogeneity in Ethylmalonic Encephalopathy
| Autor: | Joe T. R. Clarke, Nicole Pigeon, Philippe M. Campeau, Denis Cyr, Bernard Lemieux |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Nucleocytoplasmic Transport Proteins
Pathology medicine.medical_specialty Pediatrics Mutation Missense Twins Corpus callosum Mitochondrial Proteins Ethylmalonic encephalopathy Diseases in Twins Spastic Humans Medicine Child Coma business.industry Brain Sequence Analysis DNA medicine.disease Magnetic Resonance Imaging Hypotonia Inborn error of metabolism Pediatrics Perinatology and Child Health Disease Progression Female ETHE1 Neurology (clinical) Monochorionic twins medicine.symptom business Metabolism Inborn Errors |
| Zdroj: | Journal of Child Neurology. 24:991-996 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073808331359 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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