Obara Koji, Abe Erika, Toyoshima Itaru
Department of Neurology, Akita National Hospital, National Hospital Organization, Yurihonjo, Japan.
Case Rep Neurol. 2021 Mar 22;13(1):211-217. doi: 10.1159/000514243. eCollection 2021 Jan-Apr.
We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration. Her seizures occurred all the time despite administration of multiple anticonvulsants at high doses. At the age of 31, she started perampanel, which resulted in reduction of anticonvulsants after her visible myoclonus and convulsions disappeared. Brain magnetic resonance imaging showed marked cerebral and cerebellar atrophy, and single-photon emission computed tomography using N-isopropyl-p-[I] iodoamphetamine (IMP-SPECT) revealed significant hypoperfusion of the frontal lobe and cerebellum. We identified a W219R homozygous mutation in exon 1 of the NHLRC1 gene. Because perampanel may not only control seizures but also prevent mental deterioration in LD, we propose that perampanel should be administered from the early stage of LD.
我们报告了一位患有拉福拉病（LD）的长寿患者。一名34岁女性在11岁时开始出现癫痫发作。由于频繁的全身性强直阵挛发作、肌阵挛和进行性精神衰退，她在二十出头时就卧床不起。尽管大剂量使用了多种抗惊厥药物，她的癫痫仍持续发作。31岁时，她开始服用吡仑帕奈，在明显的肌阵挛和惊厥消失后，抗惊厥药物用量减少。脑磁共振成像显示大脑和小脑明显萎缩，使用N-异丙基-p-[I]碘安非他明（IMP-SPECT）的单光子发射计算机断层扫描显示额叶和小脑有明显的灌注不足。我们在NHLRC1基因外显子1中鉴定出一个W219R纯合突变。由于吡仑帕奈不仅可以控制癫痫发作，还可以预防LD患者的精神衰退，我们建议在LD的早期阶段就使用吡仑帕奈。
