Rahman Asifur, Hoque Saif Ul, Bhandari Paawan Bahadur, Alam Shamsul
Department of Neurosurgery, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
BMJ Case Rep. 2013 Jan 22;2013:bcr2012007989. doi: 10.1136/bcr-2012-007989.
Von Hippel-Lindau (VHL) disease is an inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene, and predisposing to the development of benign and malignant tumours and cysts in multiple organ systems involving eyes, kidneys, pancreas, liver and central nervous system. The responsible tumour suppressor gene for VHL disease is in chromosome 3p25. We are presenting a case of a patient with both cerebellar as well as spinal haemangioblastoma in addition to polycystic pancreas. We operated on both the spinal and the cerebellar haemangioblastomas and the patient had made a very good recovery. We present this case for its rarity along with the literature review.
冯·希佩尔-林道(VHL)病是一种遗传性常染色体显性综合征,由VHL基因的杂合种系突变引起,易导致多个器官系统发生良性和恶性肿瘤及囊肿,这些器官系统包括眼睛、肾脏、胰腺、肝脏和中枢神经系统。VHL病的相关肿瘤抑制基因位于3号染色体p25区域。我们报告一例除多囊胰腺外还患有小脑和脊髓血管母细胞瘤的患者。我们对脊髓和小脑血管母细胞瘤都进行了手术,患者恢复得非常好。我们展示这个罕见病例并进行文献综述。