Mitochondrial
encephalomyopathy with 15915 mutation: clinical report.
Seki A, Nishino I, Goto Y, Maegaki Y, Koeda T.
Division of Child Neurology;
Institute of Neurological Sciences;
Faculty of
Medicine;
Tottori University; Japan.
Pediatr Neurol 1997 Sep;17(2):161-4
ABSTRACT
A 16-year-old boy with
mitochondrial encephalomyopathy had seizures, short stature, muscle weakness,
progressive hearing loss, mental retardation, and myoclonus. His cranial
computed tomography showed progressive calcification in the basal ganglia and
cerebral atrophy. Muscle biopsy revealed many ragged-red fibers with variable
cytochrome c oxidase activity and some strongly succinate dehydrogenase-reactive
blood vessels. Sequence analysis of the entire mitochondrial DNA revealed a
novel point mutation in the tRNA-Thr gene at nucleotide pair 15915. Serum
lactate levels were decreased by high-dose coenzyme Q10 (CoQ10) therapy. The
spectral power density, a parameter of background activity on
electroencephalography, was markedly improved after additional administration
of idebenone. After initiation of combined CoQ10 and idebenone therapy, the
clinical abnormalities did not progress for 16 months.
