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Coenzyme Q- responsive Leigh's encephalopathy in two sisters

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Van Maldergem, L. Trijbels, F DiMauro, S Sindelar, PJ Musumeci, O Gillerot, Y.

A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome.

Type de document Communication à un colloque (Conference Paper) – Présentation orale avec comité de sélection
Type d'accès Accès restreint
Année de publication 2002
Langue Anglais
Conférence "30th Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism", CAMBRIDGE(England) (Sep 13-17, 2000)
Information sur le périodique "Annals of Neurology" - Vol. 52, no. 6, p. 750-754 (2002)
Peer reviewed oui
issn 0364-5134
e-issn 1531-8249
Editeur Wiley-liss (New York)
Affiliations UCL - Autre
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Référence bibliographique Van Maldergem, L. ; Trijbels, F ; DiMauro, S ; Sindelar, PJ ; Musumeci, O ; et. al. Coenzyme Q- responsive Leigh's encephalopathy in two sisters.30th Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism (CAMBRIDGE(England), Sep 13-17, 2000). In: Annals of Neurology, Vol. 52, no. 6, p. 750-754 (2002)
Permalien http://hdl.handle.net/2078.1/61854