Bosch J, Vilalta J, Tintoré M, Ortega A, Montalbán X, Codina A
Servicio de Neurología, Hospital General I Universitari Vall d'Hebron, Barcelona, España.
Rev Neurol. 1998 Feb;26(150):221-3.
Retino-cerebellar hemangioblastomatosis or Von Hippel-Lindau (VHL) disease is a phacomatosis with a dominant autosomal pattern of inheritance, which is characterized by the presence of hemangioblastomas of the central nervous system (cerebellum and spinal medulla), retinal angiomas and tumors (pheochromocytoma, clear cell carcinoma) or cysts of the abdominal viscera.
We present the case of a 22 year old female with Von Hippel-Lindau disease, in whom a cystic hemangioblastoma of the basal ganglia of the left hemisphere was diagnosed when she complained of difficulty in carrying out fine movements of the right hand and tremor for some months. The supratenorial site of cystic hemangioblastomas in the clinical context of Von Hippel-Lindau disease is very rare and clinical presentation of a parkinsonian hemisyndrome is exceptional. In our search through the literature we have found tumors with many types of histology (meningiomas, glial tumors, craniopharyngioma, epidermoid cysts) in the origin of tumoral parkinsonism.
However, we have found no previous case of cystic hemangioblastomas. We also emphasize that there was full resolution of the condition after total removal of the tumour.
视网膜小脑成血管细胞瘤病或冯·希佩尔-林道（VHL）病是一种具有常染色体显性遗传模式的错构瘤病，其特征为中枢神经系统（小脑和脊髓髓质）出现成血管细胞瘤、视网膜血管瘤和肿瘤（嗜铬细胞瘤、透明细胞癌）或腹部脏器囊肿。
我们报告一例22岁患有冯·希佩尔-林道病的女性病例。该患者在抱怨右手精细动作困难及震颤数月后，被诊断出左半球基底节区有囊性成血管细胞瘤。在冯·希佩尔-林道病的临床背景下，幕上部位的囊性成血管细胞瘤非常罕见，而帕金森氏半侧综合征的临床表现则更为罕见。在我们查阅文献时，我们发现在肿瘤性帕金森病的病因中存在多种组织学类型的肿瘤（脑膜瘤、神经胶质瘤、颅咽管瘤、表皮样囊肿）。
然而，我们此前未发现囊性成血管细胞瘤的病例。我们还强调，肿瘤完全切除后病情完全缓解。
