Carson D J, Sloan J M, Cleland J, Russell C F, Atkinson A B, Sheridan B
Department of Child Health, Queen's University, Belfast, UK.
Clin Endocrinol (Oxf). 1988 Feb;28(2):173-80. doi: 10.1111/j.1365-2265.1988.tb03653.x.
A young male patient demonstrated unusual features of Cushing's syndrome, atrial myxomas and freckled skin pigmentation. At 4.5 years of age he presented with intermittent swelling of his face and abdomen associated with weight gain and mild hypertension. A left atrial myxoma, suspected from routine physical examination, was surgically removed at 6.1 years of age. The initial mild symptoms clinically thought to be due to Cushing's syndrome, persisted intermittently without any consistent biochemical abnormality. At 10 years of age height velocity decreased and at 12 years early osteoporosis was observed radiologically. Repeated dexamethasone tests revealed a paradoxical increase in cortisol and corticotrophin from normal basal levels. Further investigation showed a cyclical pattern of hypercortisolism. The removal of a pituitary microadenoma failed to correct the features of Cushing's syndrome or prevent intermittent hypercortisolism. At 15.3 years a second left atrial myxoma was removed. This was followed by bilateral adrenalectomy. Histologically the features were consistent with primary pigmented nodular adrenocortical disease. This is the first patient described with cyclical Cushing's syndrome as part of this unusual complex of disorders.
一名年轻男性患者表现出库欣综合征、心房黏液瘤和雀斑样皮肤色素沉着的异常特征。4.5岁时，他出现面部和腹部间歇性肿胀，伴有体重增加和轻度高血压。经常规体格检查怀疑患有左心房黏液瘤，于6.1岁时手术切除。最初临床上认为由库欣综合征引起的轻度症状间歇性持续存在，未出现任何一致的生化异常。10岁时身高增长速度下降，12岁时经放射学检查发现早期骨质疏松。重复地塞米松试验显示皮质醇和促肾上腺皮质激素从正常基础水平出现反常增加。进一步检查显示皮质醇增多症呈周期性模式。切除垂体微腺瘤未能纠正库欣综合征的特征，也未能预防间歇性皮质醇增多症。15.3岁时切除了第二个左心房黏液瘤。随后进行了双侧肾上腺切除术。组织学特征与原发性色素沉着性结节性肾上腺皮质疾病一致。这是首例被描述为患有周期性库欣综合征的患者，该综合征是这种不寻常疾病复合体的一部分。
