转移性肾上腺皮质癌是麦库恩-阿尔布莱特综合征中皮质醇过多症的一个罕见病因:病例报告

Garima Sharma, Poonam Sherwani, Kalyani Sridharan
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引用次数: 0

摘要

麦库恩-奥尔布赖特综合征(McCune-Albright Syndrome,MAS)是一种镶嵌型遗传疾病,以多畸形纤维发育不良、性早熟和咖啡色皮肤斑为特征。由于会累及多个器官,其临床表现已超越了传统的三联征。多种相关的内分泌疾病是导致患者发病和死亡的主要原因。我们报告了一例 9 岁女性 MAS 患儿的病例,她患有高皮质醇增多症,继发于肾上腺肿瘤性肿块病变,并伴有肝、肺和脑转移。最初的症状是精神感觉改变,影像学特征显示为后可逆性脑病综合征。此外,还发现了其他相关的内分泌疾病。不幸的是,患者在发病 22 天内死亡。内分泌疾病是 MAS 病例中的常见病;因此,必须对患者进行充分评估,以防止发病和死亡。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Metastatic Adrenocortical Carcinoma as an Unusual Cause of Hypercortisolism in McCune-Albright Syndrome: a Case Report

Metastatic Adrenocortical Carcinoma as an Unusual Cause of Hypercortisolism in McCune-Albright Syndrome: a Case Report

McCune-Albright Syndrome (MAS) is a mosaic genetic disorder characterized by polyostic fibrous dysplasia, precocious puberty, and café-au-lait skin spots. Due to the affection of various organs, now the clinical spectrum of presentation extends beyond the classical triad. Multiple associated endocrinopathies contribute majorly to the morbidity and mortality of patients. We present a case of a 9-year-old female child affected with MAS with hypercortisolism secondary to a neoplastic adrenal mass lesion with hepatic, pulmonary, and cerebral metastasis. The initial presenting symptom was altered mental sensorium with imaging features suggesting posterior reversible encephalopathy syndrome. Other associated endocrinopathies were also detected. The outcome, unfortunately, was fatal within 22 days of initial presentation. Association of endocrinopathies are common occurrence on cases of MAS; hence, patients must be adequately evaluated for them to prevent morbidity and mortality.

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