Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

M. Teresa García-Silva, Antonia Ribes, Yolanda Campos, Barbara Garavaglia, Joaquin Arenas

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)165-170
Number of pages6
JournalPediatric Neurology
Volume17
Issue number2
DOIs
Publication statusPublished - Sep 1997

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Fingerprint

Dive into the research topics of 'Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria'. Together they form a unique fingerprint.

Cite this