Coenzyme Q-responsive Leigh's encephalopathy in two sisters.

Annals of neurology (2002-11-26)
Lionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, Pavel J Sindelar, Olimpia Musumeci, Antoon Janssen, Xavier Delberghe, Jean-Jacques Martin, Yves Gillerot
ABSTRACT

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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Coenzyme Q10, ≥98% (HPLC)