Neurosurgery, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico
Neurosurgery, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
BMJ Case Rep. 2022 Aug 29;15(8):e249758. doi: 10.1136/bcr-2022-249758.
Hemangioblastomatosis represents an unusual and malignant leptomeningeal dissemination of hemangioblastoma (HB). It has been reported in patients with sporadic HB or von Hippel-Lindau (VHL) disease. Hemangioblastomatosis had been reported following resection of a primary HB lesion in all cases except one patient with a sporadic HB. We present a patient with VHL with several HBs at the brainstem, cerebellum, pituitary stalk and retina who developed spinal hemangioblastomatosis without previous craniospinal surgery. A whole spine MRI showed the spinal dissemination from the primary lesions. The patient received craniospinal radiotherapy due to the extensive spinal leptomeningeal dissemination and multiple HBs. MRI performed 12 months after the radiotherapy showed stability of the lesions.
血管母细胞瘤病代表了血管母细胞瘤（HB）的一种不常见且恶性的脑脊膜播散。它已在散发性 HB 或 von Hippel-Lindau（VHL）病患者中报告过。除了一名散发性 HB 患者外，所有病例均在切除原发性 HB 病变后报告发生血管母细胞瘤病。我们报告了一例 VHL 患者，其脑干、小脑、垂体柄和视网膜有多个 HB，在没有先前颅脊髓手术的情况下发生了脊髓血管母细胞瘤病。全脊柱 MRI 显示原发性病变的脊柱播散。由于广泛的脊髓脑脊膜播散和多个 HB，患者接受了颅脊髓放疗。放疗后 12 个月进行的 MRI 显示病变稳定。
