[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.
Arts
W F
WF
Afd. Neurologie, Westeinde Ziekenhuis, Den Haag.
D001928:Brain Diseases, Metabolic; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007773:Lactates / Q000032:analysis*; D007888:Leigh Disease / Q000175:diagnosis* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D011773:Pyruvates / Q000032:analysis*; D014057:Tomography, X-Ray Computed
D007773:Lactates; D011773:Pyruvates
Recente ontwikkelingen in de klinische diagnostiek en de biochemische analyse van het syndroom van Leigh.