Muhamad Nor Sna, Haron J
B. Sc. (Medical Science), M.D, M.MED (Rad) Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan E-mail:
M.D, M.Med (Rad) Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan.
Malays Fam Physician. 2017 Apr 30;12(1):29-31. eCollection 2017.
Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
冯·希佩尔-林道（VHL）病是一种罕见的常染色体显性遗传多系统疾病，其特征是会出现多种良性和恶性肿瘤。我们报告了一例VHL病，女儿从父亲那里遗传了该病，父女二人都在年轻时出现进行性头痛，经磁共振成像（MRI）检查发现患有后颅窝血管母细胞瘤（HB）。两名患者还均被发现有多个胰腺和肾脏良性囊肿。
