Fujita Naoki, Mikami Jotaro, Murasawa Hiromi, Okamoto Akiko, Imai Atsushi, Hatakeyama Shingo, Ishimura Hirofumi, Yoneyama Takahiro, Koie Takuya, Kamimura Noritaka, Ohyama Chikara, Morohashi Satoko, Kijima Hiroshi
The Department of Urology, Hirosaki University Graduate School of Medicine, Japan.
Hinyokika Kiyo. 2013 Jul;59(7):427-30.
A 60-year-old man who had undergone left adrenalectomy and right partial adrenalectomy for bilateral pheochromocytoma 26 years ago was found to have an elevated serum noradrenaline (NA) and dopamine (DA) during a long-term follow-up. At the time of right partial adrenalectomy, the normal part of the right adrenal gland was preserved. His cousin and second cousin had pheochromocytoma associated with von Hippel-Lindau (VHL) disease. His eldest daughter had cerebellar hemangioblastoma. Computed tomography and magnetic resonance imaging revealed a tumor which was 17 mm in diameter with contrast enhancement in the vicinity of the S6 region in the liver. 123 I-metaiodobenzylguanidine (MIBG) scintigraphy showed an abnormal accumulation in the same area. The tumor was surgically removed under the diagnosis of recurrence of pheochromocytoma. Histopathological examination revealed findings consistent with recurrent pheochromocytoma. After operation, serum NA and DA returned to normal range and the abnormal up-take on 123I-MIBG scintigraphy disappeared. Genetic testing revealed that the patient and his daughter had VHL disease. An extensive genetic examination and long-term follow-up should be considered for the present family.
一名60岁男性，26年前因双侧嗜铬细胞瘤接受了左肾上腺切除术和右肾上腺部分切除术，在长期随访中发现血清去甲肾上腺素（NA）和多巴胺（DA）升高。在右肾上腺部分切除术时，保留了右肾上腺的正常部分。他的堂兄和堂侄患有与冯·希佩尔-林道（VHL）病相关的嗜铬细胞瘤。他的大女儿患有小脑成血管细胞瘤。计算机断层扫描和磁共振成像显示肝脏S6区域附近有一个直径17 mm的肿瘤，有对比增强。123I-间碘苄胍（MIBG）闪烁显像显示同一区域有异常聚集。该肿瘤在嗜铬细胞瘤复发的诊断下接受了手术切除。组织病理学检查结果与复发性嗜铬细胞瘤一致。术后，血清NA和DA恢复到正常范围，123I-MIBG闪烁显像上的异常摄取消失。基因检测显示患者及其女儿患有VHL病。对于这个家族，应考虑进行广泛的基因检查和长期随访。
