SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA

Citation
Mt. Garciasilva et al., SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA, Pediatric neurology, 17(2), 1997, pp. 165-170
Citations number
27
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Clinical Neurology",Pediatrics
Journal title
ISSN journal
0887-8994
Volume
17
Issue
2
Year of publication
1997
Pages
165 - 170
Database
ISI
SICI code
0887-8994(1997)17:2<165:SOEPAE>2.0.ZU;2-K
Abstract
We report a boy 20 months of age with encephalopathy, petechiae, and e thylmalonic aciduria (EPEMA). Other clinical features were severe hypo tonia, orthostatic acrocyanosis, and chronic diarrhea, Magnetic resona nce imaging (MRI) of the brain demonstrated bilateral lesions in the l enticular and caudate nuclei, periaqueductal region, subcortical areas , white matter, and brainstem, Short and medium chain Acyl-CoA dehydro genase and cytochrome c oxidase (COX) activities in fibroblasts were n ormal, Muscle histochemistry disclosed diffuse COX deficiency, and res piratory chain activities in muscle disclosed severe COX deficiency, T welve other patients with similar clinical features have been reported , Muscle COX activity, studied only in four, demonstrated a clear-cut defect. (C) 1997 by Elsevier Science Inc, All rights reserved.