title: [Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.
authors.affiliation: Service de réanimation et neurologie pédiatrique, hôpital Raymond-Poincaré, Garches, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Pinard
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: E
authors.initials: E
authors.lastname: Barkaoui
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.forename: M
authors.initials: M
authors.lastname: Birch-Machin
authors.forename: P
authors.initials: P
authors.lastname: Reinert
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
mesh_terms: D001480:Basal Ganglia Diseases / Q000209:etiology; D001927:Brain Diseases / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D002663:Child Language; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007806:Language Disorders / Q000209:etiology; D007888:Leigh Disease / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011379:Prognosis; D011597:Psychomotor Performance / Q000502:physiology; D011712:Pyramidal Tracts / Q000503:physiopathology; D012074:Remission Induction; D012256:Riboflavin / Q000627:therapeutic use*; D013385:Succinate Dehydrogenase / Q000172:deficiency*
chemical_list: D013385:Succinate Dehydrogenase; D012256:Riboflavin