DHDDS 相关性癫痫伴海马萎缩：病例报告。
DHDDS-related epilepsy with hippocampal atrophy: a case report.
机构信息
Service of Neurology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, 2350 Rua Ramiro Barcelos, Porto Alegre, RS, 90035-903, Brazil.
Postgraduate Research Program in Biological Sciences, Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
出版信息
Neurogenetics. 2024 Nov 22;26(1):3. doi: 10.1007/s10048-024-00780-w.
Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.
发育迟缓伴或不伴运动异常和癫痫（DEDSM）是一种神经发育表型，与 DHDDS 基因突变单等位基因有关。我们报告了一例与 DHDDS 变异相关的 DEDSM 病例（c.614G > A，p.Arg205Gln），该病例为一名 45 岁巴西患者，表现为难治性癫痫、共济失调、肌张力障碍、帕金森病和全面发育迟缓。这是首例将 DHDDS 变异与神经影像学上的海马萎缩相关联的病例。在调整抗癫痫药物治疗后，癫痫得到了控制，患者以前因肌阵挛性抽搐而经常摔倒导致无法行走，现在步态和活动能力有了显著改善。
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