Von Hippel-Lindau (VHL) 病是一种罕见的神经皮肤疾病，其特征是由于基因突变导致涉及不同器官（肾、肾上腺、胰腺、肝脏、泌尿生殖系统、中枢神经系统和头颈部区域）的多种良性和恶性肿瘤。 VHL 肿瘤抑制基因。在这里，我们描述了一名患有未知 VHL 疾病的患者，他主诉右下肢感觉减退约六年。进行了腰椎 MRI 检查，发现右侧 L3-L4 水平存在广泛的椎间孔病变，以及涉及脊髓背侧的多个匍匐性硬膜内和髓外流空洞。该患者接受了数字减影血管造影以排除脊髓硬脑膜动静脉瘘，其影像学特征提示脊髓血管母细胞瘤。在存在脊髓血管母细胞瘤的情况下，进行了脑部 MRI 进行进一步评估，以排除 VHL 疾病的可能诊断，并在右侧小脑半球发现了孤立性血管母细胞瘤。该患者接受了腰椎手术，证实了与 VHL 疾病相关的血管母细胞瘤的可疑诊断。版权所有 © 2023，Santos 等人。

Von Hippel-Lindau (VHL) disease is a rare neurocutaneous disorder characterized by multiple benign and malignant tumors involving different organs (renal, adrenal, pancreas, liver, urogenital system, central nervous system, and head and neck region) due to mutations in the VHL tumor suppressor gene. Here, we describe a patient with unknown VHL disease who has complained of hypoesthesia of the right lower limb for about six years. A lumbar MRI was performed and revealed an expansive foraminal lesion at the right L3-L4 level and multiple serpiginous intradural and extramedullary flow voids involving the dorsal aspect of the spinal cord. The patient underwent digital subtraction angiography to exclude a spinal dural arteriovenous fistula, which revealed imaging features suggestive of spinal hemangioblastoma. In the presence of a spinal hemangioblastoma, a brain MRI was performed for further evaluation to rule out the possible diagnosis of VHL disease, and a solitary hemangioblastoma on the right cerebellar hemisphere was found. The patient underwent lumbar spine surgery, confirming the suspicious diagnosis of hemangioblastomas related to VHL disease.Copyright © 2023, Santos et al.