Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Epileptic Disord. 2020 Apr 1;22(2):233-236. doi: 10.1684/epd.2020.1150.
We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A>C, in the NHLRC1 gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive decline. At 14 years, a neurological examination showed severe hypomimia, bradykinesia, rigidity and low-amplitude myoclonic jerks. Flash-visual and somatosensory evoked potentials showed an increased amplitude of the cortical components, while an electroretinogram showed attenuated responses. An EEG showed diffuse polyspikes associated with positive-negative jerks as well as posterior slow waves and irregular spikes. The electroclinical picture suggested the diagnosis of Lafora disease regarding the association of visual seizures, cognitive deterioration, and action myoclonus, together with the EEG and evoked potential findings. Two uncommon findings were the prominence of extrapyramidal signs in the early stage of disease (which are rarely reported) and attenuation of electroretinal responses. We consider that Lafora disease should be included in the diagnostic work-up for juvenile Parkinsonism, when associated with epilepsy.
我们报告了一例 Lafora 病的非典型表现，该患者为塞内加尔女孩，携带 NHLRC1 基因的纯合变异 c.560A>C。13 岁时，患者出现肌阵挛性和视觉性癫痫发作、进行性精神运动迟缓以及认知能力下降。14 岁时，神经系统检查显示严重的面肌无力、运动徐缓、僵硬和低振幅肌阵挛性抽搐。闪光视觉和体感诱发电位显示皮质成分的振幅增加，而视网膜电图显示反应减弱。脑电图显示弥漫性多棘波，伴有正-负性抽搐以及后慢波和不规则棘波。电临床图像提示 Lafora 病的诊断，考虑到视觉性癫痫发作、认知功能恶化和动作性肌阵挛的相关性，以及脑电图和诱发电位的发现。两个不常见的发现是疾病早期锥体外系体征明显（很少报道）和视网膜电图反应减弱。我们认为，当与癫痫相关时，Lafora 病应纳入青少年帕金森病的诊断性检查。
