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Riboflavine-response Leigh syndrome and leukodystrophy associated to partial succinate dehydrogenase deficiency

Lookup NU author(s): Professor Mark Birch-Machin

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Abstract

Succinate dehydrogenase (SDH) deficiency is rare. Clinical manifestations can appear in infancy with a marked impairment of psychomotor development with pyramidal signs and extrapyramidal rigidity. Case report. - A 10-month-old boy developed severe neurological features, evoking a Leigh syndrome; magnetic resonance imaging showed features of leukodystrophy. A deficiency in the complex 11 respiratory chain (succinate dehydrogenase [SDH]) was shown. The course was remarkable by the regression of neurological impairment under treatment by riboflavin. The delay of psychomotor development, mainly involving language, was moderate at the age of 5 years. Conclusion. - The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.


Publication metadata

Author(s): Birch-Machin M; Pinard JM; Marsac C; Barkaoui E; Desguerre I; Reinert P; Ponsot G

Publication type: Article

Publication status: Published

Journal: Archives de Pediatrie

Year: 1999

Volume: 6

Issue: 4

Pages: 421-426

Print publication date: 01/04/1999

ISSN (print): 0929-693X

ISSN (electronic): 1769-664X

Publisher: Elsevier Masson

URL: http://dx.doi.org/10.1016/S0929-693X(99)80224-3

DOI: 10.1016/S0929-693X(99)80224-3

PubMed id: 10230482


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