Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Brain Dev. 2021 Mar;43(3):486-489. doi: 10.1016/j.braindev.2020.10.015. Epub 2020 Nov 13.
Dravet syndrome (DS) is severe myoclonic epilepsy in infancy and associated with a heterozygous mutation of the gene for the sodium channel alpha 1 subunit (SCN1A). Recently, adult patients with DS have been reported to show parkinsonism, but no corresponding neuroimaging data are available. Here, we present neuroimaging data in 2 adult patients with DS showing parkinsonian symptoms.
Case 1: A man who had intractable seizures from the age of 1 year and 2 months was diagnosed with DS at 7 with a mutation in the SCN1A gene. At 18, he had parkinsonian symptoms such as masked face and bradykinesia. At 20, he was admitted to our department. Dopamine transporter single-photon emission computed tomography (DAT SPECT) showed no decrease in striatal binding of I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) nortropane (I-FP-CIT), and myocardial scintigraphy showed no decrease in cardiac uptake of I-metaiodobenzylguanidine (I-MIBG). Levodopa showed no significant improvement in his symptoms. Case 2: A woman who had febrile seizures at 4 months of age and myoclonic seizures at 1 year and 5 months was diagnosed with DS at 31. She had myoclonus, resting tremor, hypertonia, antecollis, crouch gait, and bradykinesia. DAT SPECT imaging showed no decrease in striatal FP-CIT binding, and levodopa did not improve her symptoms.
The normal DAT SPECT and I-MIBG results suggest that dopaminergic neurons projecting onto striatal neurons were not impaired in our patients, explaining the lack of response to levodopa. Thus, dopamine imaging can help to guide treatment decisions in patients with DS and parkinsonism.
Dravet 综合征（DS）是一种严重的婴儿期肌阵挛性癫痫，与钠离子通道 α1 亚单位（SCN1A）基因的杂合突变有关。最近，有报道称成年 DS 患者出现帕金森病，但尚无相应的神经影像学数据。本文报道了 2 例表现为帕金森病症状的成年 DS 患者的神经影像学数据。
病例 1：一名男性，1 岁 2 个月时出现难治性癫痫，7 岁时被诊断为 DS，携带 SCN1A 基因突变。18 岁时，他出现了面具脸和运动迟缓等帕金森病症状。20 岁时，他被收入我院。多巴胺转运体单光子发射计算机断层扫描（DAT SPECT）显示纹状体 I-N-ω-氟丙基-2β-羧甲氧基-3β-（4-碘苯基）-nortropane（I-FP-CIT）结合无减少，心肌闪烁显像显示 I-间碘苄胍（I-MIBG）摄取无减少。左旋多巴对其症状无明显改善。病例 2：一名女性，4 个月时出现热性惊厥，1 岁 5 个月时出现肌阵挛性癫痫，31 岁时被诊断为 DS。她有肌阵挛、静止性震颤、肌张力增高、前斜颈、蹲伏步态和运动迟缓。DAT SPECT 成像显示纹状体 FP-CIT 结合无减少，左旋多巴也未改善其症状。
正常的 DAT SPECT 和 I-MIBG 结果提示，向纹状体神经元投射的多巴胺能神经元在我们的患者中没有受损，这解释了对左旋多巴没有反应的原因。因此，多巴胺成像可以帮助指导 DS 伴帕金森病患者的治疗决策。
