Service de Neurologie, Centre Hospitalier Universitaire de Nancy, Nancy, France.
Epilepsia. 2010 Apr;51(4):708-11. doi: 10.1111/j.1528-1167.2009.02498.x. Epub 2010 Feb 12.
Establishing an early diagnosis of Lafora disease (LD) is often challenging. We describe two cases of LD presenting as myoclonus and tonic-clonic seizures, initially suggesting idiopathic generalized epilepsy. The subsequent course of the disease was characterized by drug-resistant myoclonic epilepsy, cognitive decline, and visual symptoms, which oriented the diagnosis toward progressive myoclonic epilepsy and, more specifically, LD. Early in the evolution in the first case, and before histopathologic and genetic confirmation of LD in both cases, [18]Fluorodeoxyglucose positron emission tomography (FDG-PET) revealed posterior hypometabolism, consistent with the well-known posterior impairment in this disease. This suggests that FDG-PET could help to differentiate LD in early stages from other progressive myoclonic epilepsies, but confirmation is required by a longitudinal study of FDG-PET in progressive myoclonic epilepsy.
早期诊断拉福拉病（LD）常常具有挑战性。我们描述了两例以肌阵挛和强直阵挛性发作为表现的 LD 病例，最初提示特发性全面性癫痫。疾病的后续病程表现为耐药性肌阵挛性癫痫、认知功能下降和视觉症状，这将诊断指向进行性肌阵挛性癫痫，更具体地指向 LD。在第一个病例的早期，以及在两个病例的 LD 的组织病理学和遗传学确认之前，[18]氟脱氧葡萄糖正电子发射断层扫描（FDG-PET）显示后叶代谢低下，与这种疾病中众所周知的后叶损害一致。这表明 FDG-PET 可以帮助在早期将 LD 与其他进行性肌阵挛性癫痫区分开来，但需要通过对进行性肌阵挛性癫痫的 FDG-PET 进行纵向研究来确认。
