Cornish D, Pont A, Minor D, Coombs J L, Bennington J
Am J Med. 1984 Jul;77(1):147-50. doi: 10.1016/0002-9343(84)90450-9.
A 56-year-old woman with many unusual manifestations of von Hippel-Lindau syndrome is described. In addition to retinal hemangioblastomas, pheochromocytoma, renal cell carcinoma, and multiple organ cysts, she had a cerebellar astrocytoma, pancreatic exocrine insufficiency, diabetes mellitus, thyrotoxicosis, and a metastatic calcitonin-secreting islet cell carcinoma. This case report documents the first example of a metastatic islet cell tumor in a patient with von Hippel-Lindau disease. The possible relationship between this disorder, the other neurocutaneous syndromes, and the multiple endocrine neoplasia syndromes is discussed.
本文描述了一名患有许多罕见的冯·希佩尔-林道综合征表现的56岁女性。除了视网膜血管瘤、嗜铬细胞瘤、肾细胞癌和多个器官囊肿外,她还患有小脑星形细胞瘤、胰腺外分泌功能不全、糖尿病、甲状腺毒症以及转移性降钙素分泌胰岛细胞瘤。本病例报告记录了冯·希佩尔-林道病患者中转移性胰岛细胞瘤的首个病例。讨论了这种疾病、其他神经皮肤综合征和多发性内分泌肿瘤综合征之间的可能关系。