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以孤立性僵硬为主要表现的肝豆状核变性：一例报告

Isolated Stiffness as a Predominant Manifestation of Wilson Disease: A Case Report.

作者信息

Shahatta Ahmed Abdulhussain, Shlaka Ali Azeez, Al-Badri Sajjad Ghanim, Al-Shammari Ali Saad, Naeem Khadija, Ali Ali Saif, Rizgar Hussein, Al-Fatlawi Nabeel, Alogaili Muna, Sayed Sabry Babiker H

机构信息

College of Medicine Thi-Qar University Thi-Qar Iraq.

Al-Hussain Teaching Hospital Thi-Qar Iraq.

出版信息

Clin Case Rep. 2025 Sep 8;13(9):e70865. doi: 10.1002/ccr3.70865. eCollection 2025 Sep.

DOI:10.1002/ccr3.70865
PMID:40933299
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12417320/
Abstract

Early recognition of atypical Wilson disease (WD) presentations, such as isolated stiffness, is essential to avoid misdiagnosis and facilitate timely intervention. A comprehensive evaluation, including advanced imaging and biochemical analysis, can help differentiate WD in cases where common neurological symptoms are absent, thus preventing progression to severe neurological impairment.

摘要

早期识别非典型威尔逊病（WD）的表现，如孤立性僵硬，对于避免误诊和促进及时干预至关重要。全面评估，包括先进的影像学检查和生化分析，有助于在缺乏常见神经症状的情况下鉴别WD，从而防止病情进展为严重的神经功能损害。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6994/12417320/d49b61350de4/CCR3-13-e70865-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6994/12417320/6ef47e1e70b5/CCR3-13-e70865-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6994/12417320/d49b61350de4/CCR3-13-e70865-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6994/12417320/6ef47e1e70b5/CCR3-13-e70865-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6994/12417320/d49b61350de4/CCR3-13-e70865-g001.jpg

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本文引用的文献

1
Copper Conundrum: Navigating Atypical Wilson's Disease Through Radiological Insights.铜之谜：通过放射学见解诊治非典型威尔逊病
Cureus. 2024 Jul 23;16(7):e65203. doi: 10.7759/cureus.65203. eCollection 2024 Jul.
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A rare presentation of Wilson disease with neurological symptoms: Case report and genetic analysis.罕见的以神经症状为表现的肝豆状核变性：病例报告及基因分析。
Medicine (Baltimore). 2024 Feb 2;103(5):e37099. doi: 10.1097/MD.0000000000037099.
3
A weighted cranial diffusion-weighted imaging scale for Wilson's disease.用于威尔逊病的加权头颅扩散加权成像量表。
Front Neurosci. 2023 Aug 15;17:1186053. doi: 10.3389/fnins.2023.1186053. eCollection 2023.
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A Challenging Case of Wilson's Disease.一例具有挑战性的威尔逊病病例。
Cureus. 2023 Jul 29;15(7):e42655. doi: 10.7759/cureus.42655. eCollection 2023 Jul.
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Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management.神经型威尔逊病：流行病学、临床表现、诊断与治疗
Cureus. 2023 Apr 26;15(4):e38170. doi: 10.7759/cureus.38170. eCollection 2023 Apr.
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Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.威尔逊氏病：直面罕见病诊断的挑战。
Biomedicines. 2021 Aug 28;9(9):1100. doi: 10.3390/biomedicines9091100.
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Childhood-onset hereditary spastic paraplegia and its treatable mimics.儿童起病遗传性痉挛性截瘫及其可治疗性类似疾病。
Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24.
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EASL Clinical Practice Guidelines: Wilson's disease.EASL 临床实践指南：肝豆状核变性。
J Hepatol. 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007.
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Wilson's disease.威尔逊氏病
Lancet. 2007 Feb 3;369(9559):397-408. doi: 10.1016/S0140-6736(07)60196-2.
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Wilson disease.威尔逊氏病
Gastroenterology. 2003 Dec;125(6):1868-77. doi: 10.1053/j.gastro.2003.05.010.