Ichiba Y, Nishizaki Y, Tanizaki M
Department of Paediatrics, Okayama National Hospital, Japan.
Acta Paediatr. 1992 Jan;81(1):91-2. doi: 10.1111/j.1651-2227.1992.tb12089.x.
A young Japanese female demonstrated unusual features of Cushing's syndrome, cardiac myxomas and mucocutaneous lentigines. At the age of 12 years she presented with growth failure and obesity. The dexamethasone suppression test, the metyrapone test and low corticotropin concentrations indicated a primary adrenal disorder. At surgery, the adrenal glands were not enlarged (the right, 4.0 g; the left; 4.5 g) but had numerous small dark brown nodules. The pathological findings showed multiple small black cortical nodules containing large cells with eosinophilic cytoplasm and lipofuscin, and internodular cortical atrophy. These abnormalities were consistent with primary pigmented nodular adrenocortical disease. At age 22 years she complained of fatigue and palpitations associated with mid-chest pain. Four cardiac myxomas, suspected from the echocardiogram, were surgically removed. Because Cushing's syndrome and cardiac myxomas are life-threatening conditions, an awareness of the complex is important.
一名年轻的日本女性表现出库欣综合征、心脏黏液瘤和皮肤黏膜色素沉着的异常特征。12岁时，她出现生长发育迟缓及肥胖。地塞米松抑制试验、甲吡酮试验及促肾上腺皮质激素浓度降低提示原发性肾上腺疾病。手术时，肾上腺未增大（右侧4.0克；左侧4.5克），但有许多小的深褐色结节。病理结果显示多个小的黑色皮质结节，含有嗜酸性细胞质和脂褐素的大细胞，以及结节间皮质萎缩。这些异常符合原发性色素沉着性结节性肾上腺皮质疾病。22岁时，她主诉疲劳、心悸并伴有胸前区疼痛。超声心动图怀疑有4个心脏黏液瘤，遂行手术切除。由于库欣综合征和心脏黏液瘤均为危及生命的疾病，认识到这种综合征很重要。
