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A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle

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 det...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1988-05, Vol.51 (5), p.704-708
Main Authors: Van Erven, P M, Gabreëls, F J, Ruitenbeek, W, Renier, W O, Ter Laak, H J, Stadhouders, A M
Format: Article
Language:English
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Summary: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.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.51.5.704