[Current developments in the clinical diagnosis and the biochemical analysis of Leigh's syndrome]

Illustrated by two case histories, a survey is given of the current knowledge about the clinical details, radiologic findings, other diagnostic tools and biochemical mechanisms of Leigh's syndrome. This syndrome can at present be diagnosed during life on the basis of clinical and radiological signs, especially in combination with increased levels of lactate and pyruvate in body fluids. Emphasis is given to the great biochemical heterogeneity of this syndrome.