Brain Dev. 1992 Nov;14(6):404-8.

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

Burgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, Aicardi J.

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Unité de Neuropédiatrie, Hôpital des Enfants Malades, Paris, France.

Abstract

We report 2 sisters with a degenerative neurological disorder presenting clinically as a leukodystrophy. CT scan and MRI demonstrated small symmetrical foci of necrosis in the substentia nigra and in the basal ganglia typical of Leigh syndrome and diffuse cerebral white matter abnormalities. In these patients a deficiency in complex II of the respiratory chain was demonstrated in isolated mitochondria from muscle, as well as in fibroblasts and lymphocytes.

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Deficiency in complex II of the respiratory chain, presenting as a leukodystroph...
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.
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Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

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