Mancardi G L, Primavera A, Leonardi A, De Martini I, Salvarani S, Bugiani O
Eur Neurol. 1979;18(2):129-35. doi: 10.1159/000115067.
A young male patient affected with Lafora's disease and concomitant mental deterioration, myoclonic jerks and epileptic seizures is reported. A cerebral biopsy showed round PAS-positive myoclonus bodies in nerve cells and neuropile. A tendency to periodic recurrence of paroxysmal activity in the EEG tracings, an unusual finding in Lafora's disease, is briefly discussed.
报告了一名患有拉福拉病并伴有精神衰退、肌阵挛性抽搐和癫痫发作的年轻男性患者。脑活检显示神经细胞和神经纤维网中有圆形的PAS阳性肌阵挛小体。本文简要讨论了脑电图记录中阵发性活动周期性复发的倾向,这在拉福拉病中是一个不寻常的发现。