[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]

Arch Pediatr. 1999 Apr;6(4):421-6. doi: 10.1016/s0929-693x(99)80224-3.
[Article in French]

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 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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Basal Ganglia Diseases / etiology
  • Brain Diseases / drug therapy
  • Brain Diseases / etiology*
  • Brain Diseases / physiopathology
  • Child Language
  • Child, Preschool
  • Follow-Up Studies
  • Humans
  • Infant
  • Language Disorders / etiology
  • Leigh Disease / drug therapy
  • Leigh Disease / etiology*
  • Leigh Disease / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Prognosis
  • Psychomotor Performance / physiology
  • Pyramidal Tracts / physiopathology
  • Remission Induction
  • Riboflavin / therapeutic use*
  • Succinate Dehydrogenase / deficiency*

Substances

  • Succinate Dehydrogenase
  • Riboflavin