12岁男孩库欣病诊断与治疗的挑战。病例报告。

Q3 Medicine
Agim Gjikopulli, Sonila Tomori, Marjeta Tanka, Donjeta Bali
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引用次数: 0

摘要

库欣病(CD),定义为由垂体促皮质腺瘤分泌过量促肾上腺皮质激素(ACTH)引起的高皮质醇症,很少出现在儿科年龄范围内。目的是描述一个12岁的阿尔巴尼亚男孩,他的诊断和治疗库欣病的过程充满挑战。他在过去三年中表现出头痛、体重迅速增加、发育迟缓、体毛生长增加和典型的库欣古德外貌。在地拉那大学医院中心“特蕾莎修女”儿科内分泌科会诊后,这名男孩被预先诊断为库欣综合征,尽管成像结果不一致,但由于暗含的实验室检查,他被怀疑患有垂体腺瘤。异位acth依赖性库欣综合征合并神经内分泌瘤(类癌),胸部CT显示右肺下叶结节状病变,呈规则分叶状轮廓,导致肺结核肉芽肿。即使成像也不能识别分泌acth的微腺瘤;决定性的检查是在CRH试验期间从岩下窦采集样本,发现左侧acth分泌灶。左半垂体切除术采用伽玛刀治疗,导致高皮质醇症的有效正常化,但有生长激素缺乏的副作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.

Cushing's Disease (CD), defined as hypercortisolism caused by excess Adrenocorticotropic Hormone (ACTH) secretion by a pituitary corticotroph adenoma, rarely presents in the pediatric age range. The aim is to describe a 12-year-old Albanian boy with a challenging pathway to diagnosis and treatment process for Cushing's disease. He presented with headaches, rapid weight gain during the last three years, stunting, increased body hair growth, and a typical Cushingoid appearance. After a consultation in the Pediatric Endocrinology Unit at the University Hospital Center, "Mother Teresa," in Tirana, the boy was pre-diagnosed with Cushing Syndrome, and hypophyseal adenoma was suspected due to suggestive laboratory tests, although non-consistent imaging results. An ectopic ACTH-dependent Cushing syndrome was suspected together with neuroendocrine neoplasia (carcinoid tumor) as a thoracic CT showed a nodular lesion with regular-lobulated sharp contours in the lower lobe of the right lobe resulted in pulmonary tuberculosis granuloma. Even imaging failed to identify the ACTHsecreting microadenoma; the decisive examination was an intervention to collect samples from the inferior petrosal sinus during the CRH test, which found a left-side ACTH-secreting focus. Left hemi-hypophysectomy was performed using gamma knife therapy, resulting in effective normalization of hypercortisolism, but with the side effect of growth hormone deficiency.

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来源期刊
Pediatria Medica e Chirurgica
Pediatria Medica e Chirurgica Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.70
自引率
0.00%
发文量
21
审稿时长
10 weeks
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