Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

Abstract:

:We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqueductal region, subcortical areas, white matter, and brainstem. Short and medium chain Acyl-CoA dehydrogenase and cytochrome c oxidase (COX) activities in fibroblasts were normal. Muscle histochemistry disclosed diffuse COX deficiency, and respiratory chain activities in muscle disclosed severe COX deficiency. Twelve other patients with similar clinical features have been reported. Muscle COX activity, studied only in four, demonstrated a clear-cut defect.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

García-Silva MT,Ribes A,Campos Y,Garavaglia B,Arenas J

doi

10.1016/s0887-8994(97)00048-9

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

165-70

issue

2

eissn

0887-8994

issn

1873-5150

pii

S0887899497000489

journal_volume

17

pub_type

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