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[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]
J M Pinard1, C Marsac, E Barkaoui
1Service de réanimation et neurologie pédiatrique, hôpital Raymond-Poincaré, Garches, France.
Unlabelled:
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 II 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.