Cope R, Schleinitz P F
Am J Gastroenterol. 1983 Dec;78(12):802-5.
A case of multiple endocrine neoplasia, type 2b, is reported presenting with weight loss, neck masses, and constipation. A medullary thyroid carcinoma was found to be present together with a megacolon. In this syndrome, the diagnosis of the thyroid tumor is rarely made before it is well established; hence an appreciation of the accompanying gastrointestinal symptoms and signs may lead to early diagnosis. The case had many classical features, such as ganglioneuromata involving the tongue, lips, and eyelids and typical biochemical findings. However, several unusual findings were present, such as the absence of any skeletal abnormalities, an acute onset of constipation, and the presence of bony metastases and the case is reported to illustrate the complexity of this uncommon entity.
报告了一例2b型多发性内分泌腺瘤病,表现为体重减轻、颈部肿块和便秘。发现甲状腺髓样癌与巨结肠并存。在该综合征中,甲状腺肿瘤在确诊之前很少能被诊断出来;因此,认识到伴随的胃肠道症状和体征可能有助于早期诊断。该病例有许多典型特征,如累及舌、唇和眼睑的神经节瘤以及典型的生化检查结果。然而,也存在一些不寻常的发现,如无任何骨骼异常、便秘急性发作、存在骨转移,报告该病例以说明这种罕见疾病的复杂性。