DEFICIENCY IN COMPLEX-IV (CYTOCHROME-C-OXIDASE) OF THE RESPIRATORY-CHAIN, PRESENTING AS A LEUKODYSTROPHY IN 2 SIBLINGS WITH LEIGH-SYNDROME

Two siblings with Leigh syndrome presenting at the age of 6 months with clinical and radiological features suggestive of a leukodystrophy are reported. A deficiency in complex IV of the respiratory chain (cytochrome c oxidase) was demonstrated in muscle mitochondria of both patients. To our knowledge, this is the first familial case of Leigh syndrome due to cytochrome c oxidase deficiency, presenting clinically and radiologically with signs of a leukodystrophic process, We suggest that respiratory chain enzyme defects should be considered in the differential diagnosis of cases suggestive of a leukodystrophy.