Cayetano Heredia University, Lima, Peru.
Endocr Pract. 2010 Nov-Dec;16(6):1003-6. doi: 10.4158/EP10040.CR.
To report a case of a young normolipidemic woman with mucocutaneous xanthomas who developed neurogenic diabetes insipidus and hyperprolactinemia because of an inflammatory pituitary stalk lesion.
The clinical features, laboratory results, magnetic resonance imaging, and pathology findings are presented. In addition, the pertinent literature is reviewed.
A 23-year-old woman presented with a 9-month history of polydipsia, polyuria, galactorrhea, secondary amenorrhea, and weight gain. Her previous medical history included chronic anemia and widespread mucocutaneous xanthomas. Laboratory tests showed hyperprolactinemia, normal electrolytes, and a normal lipid profile. The results of a water deprivation test were compatible with neurogenic diabetes insipidus, and cerebral magnetic resonance imaging showed pituitary stalk thickening. Histologic findings on a skin biopsy specimen supported the diagnosis of non-Langerhans histiocytosis. Treatment was initiated with cabergoline, nasally administered desmopressin, radio-frequency ablation of facial skin lesions, and surgical excision of other accessible lesions.
Xanthoma disseminatum is a rare, benign proliferative disorder characterized by extensive cutaneous and mucous membrane xanthomas in normolipidemic patients. Central nervous system involvement is rare and usually occurs in the systemic variety. Pituitary stalk disease commonly causes hyperprolactinemia, diabetes insipidus, and various degrees of hypopituitarism. The natural history of xanthoma disseminatum usually is benign, but lesions in critical anatomic sites may result in morbidity and mortality.
报告一例年轻的血脂正常女性，患有黏膜皮肤黄色瘤，因炎症性垂体柄病变导致神经性尿崩症和高催乳素血症。
介绍了该患者的临床特征、实验室结果、磁共振成像和病理发现。此外，还回顾了相关文献。
一名 23 岁女性因多饮、多尿、溢乳、继发性闭经和体重增加而就诊，病史 9 个月。既往有慢性贫血和广泛的黏膜皮肤黄色瘤。实验室检查显示催乳素升高、电解质正常和血脂正常。禁水试验结果符合神经性尿崩症，脑磁共振成像显示垂体柄增粗。皮肤活检的组织学发现支持非朗格汉斯组织细胞增生症的诊断。治疗采用卡麦角林、鼻内给予去氨加压素、射频消融面部皮损和手术切除其他可触及的皮损。
播散性黄色瘤是一种罕见的良性增生性疾病，特征为血脂正常患者广泛的皮肤和黏膜黄色瘤。中枢神经系统受累罕见，通常发生在系统性黄色瘤病中。垂体柄疾病常导致高催乳素血症、尿崩症和不同程度的垂体功能减退。播散性黄色瘤的自然病程通常是良性的，但在关键解剖部位的病变可能导致发病率和死亡率。
