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青少年型亨廷顿病患儿的耐药性癫痫:一个具有挑战性的病例及简要综述

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review.

作者信息

Khair Md Abdulhafeez M, Kabrt DO Jessica, Falchek Md Stephen

机构信息

Pediatric Neurology Fellow. Ai.I. Dupont Hospital for Children - Thomas Jefferson University. 1600 Rockland Rd, Wilington DE 19809, United States.

Osteopathic medical student, Rowan University. 42 e Laurel Rd, Stratford NJ 08084, United States.

出版信息

Qatar Med J. 2020 Jul 14;2020(1):18. doi: 10.5339/qmj.2020.18. eCollection 2020.

Abstract

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%-10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently available relevant literature. The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control.

摘要

亨廷顿舞蹈症(HD)是一种常染色体显性神经退行性疾病,其认知、运动和心理功能会逐渐衰退。舞蹈症往往是最常见的相关运动障碍,不过也可见到几种异常运动的其他变体。成人发病型HD是最常见的亚型。青少年亨廷顿舞蹈症(JHD)占所有HD病例的5%-10%,表现为具有多种特征的快速进展性疾病。我们报告了一名9岁患JHD的男性,他患有难治性癫痫。我们讨论了他的脑电图检查结果、癫痫发作类型和抗癫痫药物使用情况,并简要回顾了当前可用的相关文献。目前报告的病例揭示了对我们患者有效的抗癫痫药物,以及当儿童出现难以控制的癫痫发作时筛查JHD的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e1b/7359632/0c6a0448b86d/qmj-2020-018-g001.jpg

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