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2型多发性内分泌肿瘤综合征伴肠道神经瘤致肠梗阻:病例报告

Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report.

作者信息

Prabhu Maitreyi, Khouzam Rami N, Insel Jonathan

机构信息

Tucson Hospitals Medical Education Program, University of Arizona, Tucson, AZ, USA.

出版信息

South Med J. 2004 Nov;97(11):1130-2. doi: 10.1097/01.SMJ.0000140873.29381.12.

Abstract

We present the case of a 23-year-old male with a history since early childhood of lip and tongue mucosal neuromas. At the age of 19, he was diagnosed with both medullary thyroid carcinoma and pheochromocytoma within 1 year. These findings, with his marfanoid habitus, led to the diagnosis of multiple endocrine neoplasia type 2 (MEN 2B) syndrome. This was confirmed by a positive RET proto-oncogene. On this admission, he presented with an intestinal obstruction. Abdominal exploration revealed an obstructing tumor mass requiring colectomy, which proved by biopsy to be an intestinal neuroma. This report presents a unique case of a colonic mucosal neuroma causing obstruction in MEN 2B syndrome after the diagnosis of medullary thyroid carcinoma.

摘要

我们报告一例23岁男性病例,该患者自幼即有唇部和舌部黏膜神经瘤病史。19岁时,他在1年内被诊断出患有甲状腺髓样癌和嗜铬细胞瘤。这些发现以及他的类马凡体型导致诊断为2型多发性内分泌腺瘤病(MEN 2B)综合征。RET原癌基因检测呈阳性进一步证实了该诊断。此次入院时,他出现肠梗阻。腹部探查发现一个阻塞性肿瘤肿块,需要进行结肠切除术,活检证实为肠道神经瘤。本报告呈现了一例独特的病例,即在诊断为甲状腺髓样癌后,MEN 2B综合征中结肠黏膜神经瘤导致肠梗阻。

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