表现为颅内多发血管母细胞瘤的Von Hippel-Lindau综合征1例并文献分析

Von Hippel-Lindau Syndrome Presenting as Multiple Intracranial Hemangioblastomas: A Case Report and Literature Review

目的:VHL综合征是一类罕见的遗传性肿瘤综合征,颅内表现常为多发性中枢神经系统血管母细胞瘤。本文探讨VHL的病因、临床特点、诊断与治疗。方法:报告本院收住的1例以颅内多发血管母细胞瘤为主要表现的VHL病例,参考国内外文献,分析此类病例的临床表现、颅脑占位MR特点、治疗方式及预后。为鉴别VHL综合征与原发性颅内血管母细胞瘤提供参考,减少漏诊。结果:患者因“查体发现颅内占位2月”入院,行颅脑MR检查示双侧小脑半球及延髓后部多发异常信号结节影。术后病理示血管母细胞瘤。结论:VHL综合征临床上较为罕见,常表现为全身多系统肿瘤,临床上常易漏诊,颅内占位且由明显症状者首选的治疗措施为外科切除治疗。

Objective: Von Hippel-Lindau (VHL) syndrome is a rare hereditary neoplastic syndrome that usually manifests as intracranial multiple hemangioblastomas. This article discusses its causes, clinical features, diagnosis and treatment. Methods: This paper reports a case of VHL with multiple intracranial hemangioblastoma as the main manifestation in our hospital. With reference to the literature at home and abroad, the clinical manifestations, MRI characteristics, treatment and prognosis of this kind of case were analyzed. To provide reference for differentiating VHL syndrome from primary intracranial hemangioblastoma and reduce missed diagnosis. Results: The patient was admitted to the hospital because “intracranial space occupying was found in physical examination for 2 months”. Brain MR showed multiple abnormal signal nodules in bilateral cerebellar hemispheres and posterior medulla oblongata. Postoperative pathology showed hemangioblastomas. Conclusion: VHL syndrome is rare clinically, often manifested as systemic multisystem tumors, which is often missed clinically. Surgical resection is the first choice for patients with intracranial space occupying and obvious symptoms.