Suppr超能文献

与新的磁共振成像(MRI)表现及后部可逆性脑病综合征相关的乔伯特综合征

Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome.

作者信息

Yerdelen Deniz, Koç Filiz, Koç Zafer

机构信息

Department of Neurology, Baskent University Medical School, Adana,Turkey.

出版信息

Acta Neurol Belg. 2009 Mar;109(1):49-52.

Abstract

Joubert syndrome (JS) is an inherited disorder characterized by transient episodic hyperpnea, ataxia, and vermian hypoplasia. Typical imaging findings of JS include hypoplasia or aplasia of the cerebellar vermis, thick and elongated superior cerebellarpeduncles and an abnormally deep interpeduncular fossa with 'molar tooth sign'. We present a case of JS associated with deep cerebral sulci and fissures, polymicrogyria, and additional findings of posterior reversible encephalopathy syndrome associated with renal involvement.

摘要

乔伯特综合征(JS)是一种遗传性疾病,其特征为短暂性发作性呼吸急促、共济失调和小脑蚓部发育不全。JS的典型影像学表现包括小脑蚓部发育不全或缺失、小脑上脚增厚和延长以及脚间窝异常加深伴“磨牙征”。我们报告一例JS病例,该病例伴有大脑深沟和裂、多小脑回,以及与肾脏受累相关的后部可逆性脑病综合征的其他表现。

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