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一例具有挑战性的威尔逊病病例。

A Challenging Case of Wilson's Disease.

作者信息

João Soares Rita, Monteiro Nuno, Machado João, Silva Marques Joana, Nunes Ana

机构信息

Department of Internal Medicine, Centro Hospitalar Tondela-Viseu, Viseu, PRT.

出版信息

Cureus. 2023 Jul 29;15(7):e42655. doi: 10.7759/cureus.42655. eCollection 2023 Jul.

Abstract

Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea. The clinical presentation of WD can vary widely. Diagnosis requires a combination of clinical and biochemical findings. We present a case of a 20-year-old woman who presented to the Emergency Room with progressive motor decline. She exhibited characteristic neurological symptoms and signs, such as hypomimia, bradyphrenia, bradykinesia, dysarthria, sialorrhea, upper limb dystonia, and wing-beating tremor. Ophthalmological examination revealed corneal deposits known as Kayser-Fleischer rings. Laboratory investigations demonstrated low levels of ceruloplasmin and elevated serum copper. Brain MRI showed typical signs of copper deposition in the basal ganglia. The Leipzig criteria were used to confirm the diagnosis. Treatment with penicillamine and zinc acetate resulted in symptom improvement. This case highlights the diverse presentation of WD and the importance of early diagnosis and prompt treatment initiation.

摘要

威尔逊病(WD)是一种遗传性疾病,其特征是铜在各个器官中蓄积,尤其是肝脏、中枢神经系统和角膜。WD的临床表现差异很大。诊断需要结合临床和生化检查结果。我们报告一例20岁女性,她因进行性运动功能减退就诊于急诊室。她表现出特征性的神经症状和体征,如表情减少、思维迟缓、运动迟缓、构音障碍、流涎、上肢肌张力障碍和扑翼样震颤。眼科检查发现了称为凯-弗环的角膜沉积物。实验室检查显示铜蓝蛋白水平降低,血清铜升高。脑部磁共振成像显示基底节有典型的铜沉积迹象。采用莱比锡标准确诊。青霉胺和醋酸锌治疗使症状得到改善。该病例突出了WD的多样表现以及早期诊断和及时开始治疗的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f963/10461780/7301c9838706/cureus-0015-00000042655-i01.jpg

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