Suppr超能文献

小儿神经病学中的一种罕见三联征:一例关于脑瘫、癫痫和杜氏肌营养不良症的病例报告

An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy.

作者信息

Hendriksen Ruben G F, Aalbers Marlien W, Hendriksen Jos G M, de Die-Smulders Christine E M, Hoogland Govert, Vles Johan S H

机构信息

Department of Neurology, Maastricht University Medical Centre, Maastricht, the Netherlands.

Department of Neurosurgery, Groningen University Medical Centre, Groningen, the Netherlands.

出版信息

Child Neurol Open. 2016 Apr 19;3:2329048X16642948. doi: 10.1177/2329048X16642948. eCollection 2016 Jan-Dec.

Abstract

We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every child with cerebral palsy and either an atypical clinical course or with inexplicable laboratory values-as well as every infant boy born to a theoretical Duchenne muscular dystrophy carrier-should be subjected to additional investigations.

摘要

我们报告了一例小儿神经病学中罕见的三联征病例

一名目前12岁的患有脑瘫和癫痫的男孩,后来又被诊断出患有杜氏肌营养不良症。我们描述了导致这一特殊诊断的临床过程。本病例报告说明了不同的神经系统疾病可能如何相互掩盖。此外,它表明,每一个患有脑瘫且临床病程不典型或实验室检查结果无法解释的儿童,以及每一个理论上为杜氏肌营养不良症携带者所生的男婴,都应接受进一步检查。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验