[2 familial cases of Lafora disease. Clinical, electroencephalographic and pathologic study].
Three children born of consanguineous parents had Lafora's disease and two of them had been studied clinically, pathologically and biochemically. The autosomal recessive transmission of the disease is confirmed by the familial study and the parents present no phenotypic anomaly of the disease. Electroclinical data are discussed with regard to the early differential diagnosis between this entity and idiopathic generalised epilepsy and myoclonic epilepsy without Lafora's bodies. Iodine spectrum of the cerebral and hepatic abnormal deposits suggest that Lafora's bodies mainly consist of long chains glycogen similar to amylopectin.
D001921:Brain / Q000473:pathology; D003241:Consanguinity; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D012160:Retina / Q000473:pathology
Deux cas familiaux de maladie de Lafora. Etude clinique, électroencéphalographique et anatomique.