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 wit h clinical and radiological features suggestive of a leukodystrophy ar e reported. A deficiency in complex IV of the respiratory chain (cytoc hrome c oxidase) was demonstrated in muscle mitochondria of both patie nts. To our knowledge, this is the first familial case of Leigh syndro me due to cytochrome c oxidase deficiency, presenting clinically and r adiologically with signs of a leukodystrophic process, We suggest that respiratory chain enzyme defects should be considered in the differen tial diagnosis of cases suggestive of a leukodystrophy.