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一例罕见的巨大颅内蛛网膜囊肿给肝豆状核变性的诊断和治疗带来了困扰。

A rare giant intracranial arachnoid cyst confused the diagnosis and treatment of Wilson disease.

作者信息

Wenbin Zhang, Yeqing Huang, Aiqun Liu, Mingfan Hong, Zhisheng Wei

机构信息

Department of Neurology, School of Clinical Medicine, The First Affiliated Hospital of Guangdong Pharmaceutical University, 19 Nonglinxia Road, Guangzhou, 510080, China.

出版信息

Transl Neurosci. 2022 Mar 7;13(1):52-56. doi: 10.1515/tnsci-2022-0213. eCollection 2022 Jan 1.

Abstract

BACKGROUND

Hepatolenticular degeneration (HLD), also known as Wilson disease (WD), is a rare autosomal-recessive hereditary disease, which is often missed and misdiagnosed because of its various clinical manifestations. And WD is even more rare with giant subarachnoid cysts. In this report, we will provide a case of WD with an intracranial arachnoid cyst (IAC).

CASE DESCRIPTION

A 27-year-old woman was hospitalized in a traditional Chinese medicine hospital in Guangzhou with the first manifestation of a "slight involuntary tremor of her left upper limb". There was no improvement after acupuncture treatment, and then she was transferred to another large general hospital in Guangzhou. MRI examination of the head showed "left frontal, parietal and temporal giant subarachnoid cyst" and the patient underwent "left frontotemporal arachnoid cyst celiac shunt operation." After the operation, the patient's left limb shaking remained unchanged. Subsequently, the patient was referred to another big hospital in Guangzhou, considered "Parkinson's disease," and given "Medopa, Antan" and other treatments. However, the patient's limb shaking continued to increase and gradually developed to the extremities. At last, the patient was referred to our hospital, combined with the medical history, neurological signs, and auxiliary examination results, improve the examination of corneal K-F ring, blood ceruloplasmin, gene screening, and other tests; the diagnosis was confirmed as hepatolenticular degeneration.

CONCLUSION

After expelling copper and symptomatic treatment, the condition is improved.

摘要

背景

肝豆状核变性(HLD),又称威尔逊病(WD),是一种罕见的常染色体隐性遗传性疾病,因其临床表现多样,常易漏诊和误诊。而WD合并巨大蛛网膜下囊肿则更为罕见。在本报告中,我们将呈现一例患有颅内蛛网膜囊肿(IAC)的WD病例。

病例描述

一名27岁女性因“左上肢轻微不自主震颤”首次就诊于广州某中医院。针刺治疗后无改善,随后转至广州另一家大型综合医院。头颅MRI检查显示“左侧额、顶、颞叶巨大蛛网膜下囊肿”,患者接受了“左额颞部蛛网膜囊肿腹腔分流术”。术后患者左肢震颤无变化。随后,患者转诊至广州的另一家大医院,被诊断为“帕金森病”,并给予“美多芭、安坦”等治疗。然而,患者肢体震颤持续加重并逐渐发展至四肢。最后,患者转诊至我院,结合病史、神经系统体征及辅助检查结果,完善角膜K-F环、血铜蓝蛋白、基因筛查等检查;确诊为肝豆状核变性。

结论

驱铜及对症治疗后,病情好转。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b225/8919839/551df53f130d/j_tnsci-2022-0213-fig001.jpg

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