神経線維腫症1型に合併した褐色細胞腫の2例

Abstract

症例1(29歳男性).高血圧, 右副腎腫瘤を主訴とした.症例2(46歳男性).既往として神経線維腫症1型(NF1)があり, 検診にて腹部腫瘤, 高血圧を指摘された.いずれも体幹を中心にカフェオレ斑と神経線維腫を認め, 症例1では腋窩に小型の褐色斑もみられた.内分泌学的検査では血中・尿中ともにアドレナリン, ノルアドレナリン, ドーパミンが異常高値を示し, 腹部造影では右副腎にそれぞれ7cm, 5cm大の嚢胞性腫瘤を認め, 131I-MIBGシンチグラフィーでは腫瘍に一致して集積が認められた.以上より, NF1に合併した右副腎褐色細胞腫と診断し, いずれも右副腎摘除術を施行した.術後, 血中カテコラミン値, 血圧は正常化し, 経過良好である

Pheochromocytomas may occur as either sporadic or familial tumors. Clinical features of pheochromocytomas in neurofibromatosis 1 (NF1) patients are similar to those in patients with sporadic pheochromocytomas, unlike pheochromocytomas associated with other hereditary syndromes. Here we report two cases of pheochromocytoma associated with NF1. Case 1: A 29-year-old man with previously undiagnosed NF1, was admitted to our hospital for hypertension and a right adrenal tumor. On physical examination, cafe-au-lait spots and neurofibromas were observed on his body. Serum and urine catecholamine levels were markedly elevated. Case 2: The patient was a 46-year-old man with NF1. The tumor was incidentally detected by ultrasonography. Serum and urine catecholamine levels were similarly elevated. 131I-MIBG scintigraphy showed an abnormal accumulation in the right adrenal gland. After this diagnosis of pheochromocytoma associated with NF1, open adrenalectomy was performed. No evidence of malignancy was seen in either case.