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Lookup NU author(s): Professor Mark Birch-Machin
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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.
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
Print publication date: 01/04/1999
ISSN (print): 0929-693X
ISSN (electronic): 1769-664X
Publisher: Elsevier Masson
PubMed id: 10230482
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