INTRODUCTION 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 REPORT 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 123I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) nortropane (123I-FP-CIT), and myocardial scintigraphy showed no decrease in cardiac uptake of 123I-metaiodobenzylguanidine (123I-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. DISCUSSION The normal DAT SPECT and 123I-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.

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伴有帕金森症状和完整多巴胺能神经元的 Dravet 综合征：病例报告

引言 Dravet 综合征 (DS) 是婴儿期的严重肌阵挛性癫痫，与钠通道 α 1 亚基 (SCN1A) 基因的杂合突变有关。最近，据报道成年 DS 患者表现出帕金森症，但没有相应的神经影像学数据。在这里，我们展示了 2 名患有帕金森病症状的成年 DS 患者的神经影像学数据。病例报告 病例 1：一名 1 岁零 2 个月时患有顽固性癫痫发作的男性在 7 岁时被诊断出患有 SCN1A 基因突变的 DS。18 岁时，他出现了帕金森病症状，如蒙面脸和运动迟缓。20岁时，他被我们系录取了。多巴胺转运蛋白单光子发射计算机断层扫描 (DAT SPECT) 显示 123I-N-ω-氟丙基-2β-carbomethoxy-3β-(4-iodophenyl) nortropane (123I-FP-CIT) 的纹状体结合没有减少，心肌闪烁扫描显示心脏摄取 123I-间碘苄基胍 (123I-MIBG) 没有减少。左旋多巴的症状没有明显改善。案例 2：一位女性在 4 个月大时出现高热惊厥，在 1 年零 5 个月时出现肌阵挛发作，31 岁时被诊断为 DS。她有肌阵挛、静止性震颤、肌张力亢进、前颈、蹲伏步态和运动迟缓。DAT SPECT 成像显示纹状体 FP-CIT 结合没有减少，左旋多巴也没有改善她的症状。讨论 正常的 DAT SPECT 和 123I-MIBG 结果表明投射到纹状体神经元上的多巴胺能神经元在我们的患者中没有受损，解释对左旋多巴无反应的原因。因此，多巴胺成像有助于指导 DS 和帕金森病患者的治疗决策。