[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].
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.
Pinard
J M
JM
Service de réanimation et neurologie pédiatrique, hôpital Raymond-Poincaré, Garches, France.
Marsac
C
C
Barkaoui
E
E
Desguerre
I
I
Birch-Machin
M
M
Reinert
P
P
Ponsot
G
G
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*
D013385:Succinate Dehydrogenase; D012256:Riboflavin