Suppr超能文献

格里塞利综合征的神经影像学表现:一例病例报告及文献综述

Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature.

作者信息

Alsugair Faisal, Jadkareem Dalia, Alhazmi Rami, Alhaidey Ali

机构信息

Department of Radiology and Nuclear Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia.

Department of Medical Imaging, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.

出版信息

Radiol Case Rep. 2020 Sep 15;15(11):2339-2342. doi: 10.1016/j.radcr.2020.09.005. eCollection 2020 Nov.

Abstract

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome.

摘要

我们的病例是一名1岁女性,因胸部感染多次入院。鉴于其家族病史和高度的临床怀疑,诊断为格里塞利综合征和噬血细胞性淋巴组织细胞增生症。她的检查包括脑部核磁共振成像(MRI),结果显示弥漫性脑容量减少和胼胝体发育不全,伴有脑沟和脑回的弥漫性简化模式,符合无脑回畸形。我们首次在该综合征中描述了胼胝体发育不全和无脑回畸形。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验