MITOCHONDRIAL NADH-COENZYME Q-REDUCTASE DEFICIENCY IN LEIGHS DISEASE

A 4 1/2-month-old girl suffered from psychomotor retardation, generali zed hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age of 3 months. Her blood lactate level was elevated to 40 mg/dL. Magnetic resonance imaging of her bl ain sh owed low T1 and high T2 signal intensities in the bilateral putamen, t halamus, red nuclei, substantia nigra, superior and inferior colliculi , cerebral peduncles and periaqueductal lesions. Muscle histochemistry and electron microscopic examinations were all normal except for vari ation in fiber size showing a myopathic change. An assay of muscle mit ochondrial respiratory enzyme activities revealed a deficiency of NADH -coenzyme Q reductase. Molecular analysis did not reveal the putative T to G transversion at the nucleotide 8,993 of mitochondrial DNA in mu scle biopsies. Leigh's disease was indicated by the clinical and radio logic manifestations. The patient died at 10 months of age from pneumo nia and respiratory failure. There have been only sporadic reports of patients with Leigh's disease in Taiwan, and, to our knowledge, this i s the first documented case of a Taiwanese patient with mitochondrial NADH-coenzyme Q reductase deficiency.