伴有海马体萎缩的DHDDS相关癫痫：病例报告。

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2024-11-22 DOI:10.1007/s10048-024-00780-w

Álvaro de Oliveira Franco, Matheus Bernardon Morillos, Martim Tobias Bravo Leite, Marino Muxfeldt Bianchin, Carolina Machado Torres

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引用次数: 0

摘要

伴有或不伴有运动异常的发育迟缓和癫痫发作（DEDSM）是一种与 DHDDS 基因单倍突变相关的神经发育表型。我们报告了一例与 DHDDS 基因变异（c.614G > A, p.Arg205Gln）相关的新型 DEDSM 病例，患者是一名 45 岁的巴西人，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联系起来的病例。在调整抗惊厥治疗后，患者的癫痫发作得到了控制，而且由于肌阵挛抽搐导致的频繁跌倒而无法行走的患者在步态和活动能力方面也有了显著改善。

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DHDDS-related epilepsy with hippocampal atrophy: a case report.

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.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.