Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome.
Van Maldergem
Lionel
L
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium. vmalde@skypro.be
Trijbels
Frans
F
DiMauro
Salvatore
S
Sindelar
Pavel J
PJ
Musumeci
Olimpia
O
Janssen
Antoon
A
Delberghe
Xavier
X
Martin
Jean-Jacques
JJ
Gillerot
Yves
Y
D000328:Adult; D003067:Coenzymes; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D035781:Siblings; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency* / Q000627:therapeutic use*
D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10