Künzli Beat Martin, Shrikhande Shailesh V, Büchler Markus W, Friess Helmut
Department of General Surgery, University of Heidelberg, Im Neuenheimer Feld 110, D-69120 Heidelberg, Germany.
Surg Today. 2004;34(7):626-9. doi: 10.1007/s00595-004-2769-6.
von Hippel-Lindau (VHL) syndrome is a rare autosomal inherited disorder. A germline mutation predisposes carriers to the development of multiple tumors, the most common of which are hemangioblastoma, renal cell carcinoma, pheochromocytoma, and islet cell and cystic tumors of the pancreas, the kidney, and epididymis. Visceral manifestations, such as cystadenoma of the pancreas, occur late in its course. We report the case of a 20-year old woman who presented with vomiting and dizziness, most probably caused by a palpable mass in the upper abdomen, diagnosed as pancreatic cysts. She had undergone surgery for cerebellar hemangioblastoma 4 years previously. In view of her young age, preservation of pancreatic function was crucial because of the expense of enzyme therapy and the difficulties with follow-up. Therefore, we performed cyst enucleation and distal pancreatectomy, which relieved her symptoms. She has been well with no sign of recurrence for 18 months. This case highlights that a well-prepared surgical procedure can cure a patient with pancreatic cysts caused by VHL, living in difficult socioeconomic conditions.
冯·希佩尔-林道(VHL)综合征是一种罕见的常染色体显性遗传病。种系突变使携带者易患多种肿瘤,其中最常见的是成血管细胞瘤、肾细胞癌、嗜铬细胞瘤以及胰腺、肾脏和附睾的胰岛细胞瘤和囊性肿瘤。内脏表现,如胰腺囊腺瘤,在病程后期出现。我们报告了一例20岁女性病例,她出现呕吐和头晕症状,很可能是由上腹部可触及的肿块引起的,诊断为胰腺囊肿。她4年前曾接受过小脑成血管细胞瘤手术。鉴于她年轻,由于酶替代疗法费用高昂且随访困难,保留胰腺功能至关重要。因此,我们实施了囊肿摘除术和远端胰腺切除术,缓解了她的症状。她情况良好,18个月来无复发迹象。该病例表明,精心准备的手术程序可以治愈生活在社会经济条件困难地区的VHL所致胰腺囊肿患者。