[Recent data on Lafora disease. Apropos of 17 cases].
This study reviews 99 anatomically verified case of Lafora body disease (82 from the literature and 17 personal cases). The clinical symptoms of the disease are characterised by the triad; epilepsy, myoclonus and dementia. An anatomical and histochemical study has been undertaken and as a result emphasis is given to recent hypotheses that suggest there are similarities with Type IV glycogen storage disease (Andersen's disease) which, although clinically distinct, has the same enzyme defect.
D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002648:Child; D004831:Epilepsies, Myoclonic / Q000378:metabolism / Q000473:pathology; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male
Données récentes sur la maladie de Lafora. A propos de 17 observations.