PDF(Pubmed)
Abstract：
BACKGROUND: Von Hippel-Lindau disease (VHL) is an autosomal dominant tumor predisposition syndrome caused by mutations in the VHL gene. Patients with VHL are predisposed to developing numerous neoplasms, including central nervous system hemangioblastomas that typically arise within the cerebellum, brainstem, or spinal cord. The authors present the unusual case of a 69-year-old patient with a hemangioblastoma of the trigeminal nerve as his initial presentation of VHL.
METHODS: A 69-year-old male presented with progressive right-sided V3 paresthesias, gait disturbance, and diplopia. Magnetic resonance imaging demonstrated an enhancing 0.5-cm nodule within the right trigeminal nerve and an associated peritumoral cyst exerting mass effect on the cerebral peduncle. Neural axis imaging demonstrated pia-based enhancing lesions concerning for multiple spinal hemangioblastomas. The patient underwent an uncomplicated retrosigmoid craniotomy for trigeminal nerve hemangioblastoma resection. The patient had postoperative improvement in his gait, diplopia, and facial paresthesias. Genetic testing revealed that the patient was heterozygous for a pathological mutation in the VHL gene.
CONCLUSIONS: Hemangioblastomas in adults over 50 years of age should prompt a workup for VHL. Recognizing that cranial nerves are a possible site of hemangioblastoma occurrence is important for neurosurgeons and radiologists alike. Resection of cranial nerve hemangioblastomas is technically challenging but can lead to symptom improvement for patients. https://thejns.org/doi/10.3171/CASE24149.
METHODS: A 69-year-old male presented with progressive right-sided V3 paresthesias, gait disturbance, and diplopia. Magnetic resonance imaging demonstrated an enhancing 0.5-cm nodule within the right trigeminal nerve and an associated peritumoral cyst exerting mass effect on the cerebral peduncle. Neural axis imaging demonstrated pia-based enhancing lesions concerning for multiple spinal hemangioblastomas. The patient underwent an uncomplicated retrosigmoid craniotomy for trigeminal nerve hemangioblastoma resection. The patient had postoperative improvement in his gait, diplopia, and facial paresthesias. Genetic testing revealed that the patient was heterozygous for a pathological mutation in the VHL gene.
CONCLUSIONS: Hemangioblastomas in adults over 50 years of age should prompt a workup for VHL. Recognizing that cranial nerves are a possible site of hemangioblastoma occurrence is important for neurosurgeons and radiologists alike. Resection of cranial nerve hemangioblastomas is technically challenging but can lead to symptom improvement for patients. https://thejns.org/doi/10.3171/CASE24149.
摘要：
背景：VonHippel-Lindau病（VHL）是由VHL基因突变引起的常染色体显性肿瘤易感性综合征。VHL患者易患多种肿瘤，包括通常出现在小脑内的中枢神经系统血管母细胞瘤，脑干,或者脊髓.作者介绍了一名69岁的三叉神经血管母细胞瘤患者的罕见病例，作为他最初的VHL表现。
方法：一名69岁男性出现进行性右侧V3感觉异常，步态紊乱,和复视。磁共振成像显示右三叉神经内增强的0.5厘米结节和相关的瘤周囊肿对脑梗产生肿块效应。神经轴成像显示了多发性脊髓血管母细胞瘤的基于pia的增强病变。该患者接受了简单的乙状结肠后颅切开术，以切除三叉神经血管母细胞瘤。病人术后步态有所改善，复视,和面部感觉异常。基因检测显示，该患者为VHL基因的病理突变杂合。
结论：50岁以上成人血管母细胞瘤应提示VHL检查。认识到颅神经是血管母细胞瘤发生的可能部位对于神经外科医生和放射科医生都很重要。颅神经血管母细胞瘤的切除在技术上具有挑战性，但可以改善患者的症状。https://thejns.org/doi/10.3171/CASE24149.
方法：一名69岁男性出现进行性右侧V3感觉异常，步态紊乱,和复视。磁共振成像显示右三叉神经内增强的0.5厘米结节和相关的瘤周囊肿对脑梗产生肿块效应。神经轴成像显示了多发性脊髓血管母细胞瘤的基于pia的增强病变。该患者接受了简单的乙状结肠后颅切开术，以切除三叉神经血管母细胞瘤。病人术后步态有所改善，复视,和面部感觉异常。基因检测显示，该患者为VHL基因的病理突变杂合。
结论：50岁以上成人血管母细胞瘤应提示VHL检查。认识到颅神经是血管母细胞瘤发生的可能部位对于神经外科医生和放射科医生都很重要。颅神经血管母细胞瘤的切除在技术上具有挑战性，但可以改善患者的症状。https://thejns.org/doi/10.3171/CASE24149.
