A Mitochondrial Encephalomyopathy with a Partial Cytochrome C Oxidase Deficiency of Muscle

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1988 May 1

PMID 2841425

Citations 1

Authors

P M van Erven

F J Gabreels

W Ruitenbeek

W O Renier

H J ter Laak

A M STADHOUDERS

Affiliations

Soon will be listed here.

Abstract

A 16 year old girl showed delayed psychomotor development. In infancy, exercise intolerance, cerebellar signs, deteriorated with increasing intercurrent infections, and disturbances of breathing and cardiac rhythm became manifest. From the age of 7 years there was chronic progressive psychomotor deterioration, with hypotonia, a bilateral pyramidal and cerebellar syndrome, and mild epilepsy. CSF pyruvate and lactate levels were elevated, and lactate content was elevated in the urine. There was an abnormally high rise of lactate levels on moderate exercise and an abnormal response to pyruvate loading. Quadriceps muscle biopsies obtained at age 10 and 16 years showed ragged-red fibres, and a decreased cytochrome c oxidase activity and cytochrome aa3 content. Cytochrome c oxidase activity in fibroblasts was normal. Clinical signs and symptoms in association with a disturbance of mitochondrial energy metabolism led us to diagnosis of probable Leigh syndrome.

Citing Articles

Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies.

Hargreaves I, Heales S, Land J J Inherit Metab Dis. 1999; 22(8):925-31.

PMID: 10604144 DOI: 10.1023/a:1005643508075.

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