一个罕见的巨大颅内蛛网膜囊肿混淆了威尔逊氏病的诊断和治疗

IF 1.8 4区 医学 Q4 NEUROSCIENCES
Z. Wenbin, Huang Yeqing, Liu Aiqun, Hong Mingfan, Wei Zhisheng
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引用次数: 0

摘要

肝豆状核变性(HLD)又称Wilson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,常被漏诊和误诊。伴有巨大蛛网膜下腔囊肿的WD更为罕见。在本报告中,我们将提供一例WD合并颅内蛛网膜囊肿(IAC)。病例描述一名27岁女子在广州一家中医院住院,首次表现为“左上肢轻微不自主震颤”。经针灸治疗无好转,转院至广州另一家大型综合医院。头部MRI检查示“左侧额、顶叶及颞叶巨大蛛网膜下腔囊肿”,行“左侧额颞叶蛛网膜囊肿腹腔分流术”。术后患者左肢体震颤无明显变化。随后,患者被转诊到广州另一家大医院,被认为是“帕金森氏症”,并接受了“美多帕、安坦”等治疗。但患者肢体抖动持续增加,并逐渐向四肢发展。最后将患者转诊至我院,结合病史、神经学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;诊断为肝豆状核变性。结论经排铜及对症治疗后,病情得到改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare giant intracranial arachnoid cyst confused the diagnosis and treatment of Wilson disease
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.
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来源期刊
CiteScore
3.00
自引率
4.80%
发文量
45
审稿时长
>12 weeks
期刊介绍: Translational Neuroscience provides a closer interaction between basic and clinical neuroscientists to expand understanding of brain structure, function and disease, and translate this knowledge into clinical applications and novel therapies of nervous system disorders.
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