Suppr超能文献

一只年轻雄性大熊猫身上的“熊猫脸”和“振翅”现象

"Face of a Giant Panda" and "Beating Wings" in a Young Male.

作者信息

Arora Navneet, Wasti Kushal, Suri Vikas, Malhotra Pankaj

机构信息

Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, IND.

出版信息

Cureus. 2022 Feb 21;14(2):e22429. doi: 10.7759/cureus.22429. eCollection 2022 Feb.

Abstract

Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B) cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological presentations. Movement disorders are a characteristic finding in Wilson's disease, and "wing-beating tremors" are classical characteristics found on physical examination. We came across and managed a case of Wilson's disease with primarily neurological presentation with classical wing-beating tremors and "face of a giant panda" on radiology. As the patient had very typical findings and he also improved with the treatment, it will be beneficial to the clinicians in their daily practice to identify the disease seeing these clinical findings.

摘要

编码铜转运ATP酶β多肽(ATP7B)的基因突变会导致位于13号染色体上的威尔逊氏病。该病主要有肝脏和神经方面的表现。运动障碍是威尔逊氏病的一个典型特征,“扑翼样震颤”是体格检查中发现的经典特征。我们遇到并处理了一例以神经症状为主的威尔逊氏病病例,该病例有典型的扑翼样震颤,影像学检查显示“大熊猫脸”。由于该患者有非常典型的表现,且经治疗后病情有所改善,临床医生在日常实践中通过这些临床表现来识别该病将有所助益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3e1/8941676/402b9bef0c9b/cureus-0014-00000022429-i01.jpg

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