Netzloff M L, Garnica A D, Rodgers B M, Frias J L
Ann Clin Lab Sci. 1979 Sep-Oct;9(5):368-73.
The clinical features of the multiple mucosal neuromas (MMN) syndrome permit the recognition of these patients and their potential development of the associated medullary thyroid carcinoma (MTC). The distinctive physical appearance caused by the mucosal neuromas, the Marfanoid habitus and, occasionally, the positive family history aid in establishing the diagnosis. Neurogangliomas are frequently present in the gastrointestinal tract of these patients who may have megacolon, constipation and diarrhea. The third instance of the MMN syndrome is reported in the newborn as intestinal obstruction. It is suggested that the syndrome be considered in the differential diagnosis of Hirschsprung's disease and bowel obstruction in the neonate. Serum calcitonin measurements following stimulation by calcium or pentagastrin infusion reliably detect incipient MTC and may be used to select those MMN patients requiring thyroid surgery. Recognition of patients with the MMN syndrome and subsequent calcitonin screening and early surgical intervention will significantly reduce the chance of their developing terminal MTC. All MMN patients with mucosal neuromas or intestinal neurogangliomas should have such evaluations at least yearly. Relatives who are at risk for inheriting this dominant disease should be similarly evaluated, regardless of their normal appearance.
多发性黏膜神经瘤（MMN）综合征的临床特征有助于识别这些患者以及他们发生相关甲状腺髓样癌（MTC）的可能性。黏膜神经瘤所致的独特外貌、类马凡体型以及偶尔出现的阳性家族史有助于确诊。神经节瘤常出现在这些患者的胃肠道，患者可能有巨结肠、便秘和腹泻症状。本文报道了新生儿期MMN综合征的第三例病例，表现为肠梗阻。建议在新生儿先天性巨结肠和肠梗阻的鉴别诊断中考虑该综合征。静脉输注钙剂或五肽胃泌素刺激后测定血清降钙素，可可靠地检测出早期MTC，并可用于选择需要进行甲状腺手术的MMN患者。识别MMN综合征患者，随后进行降钙素筛查和早期手术干预，将显著降低其发生晚期MTC的几率。所有患有黏膜神经瘤或肠道神经节瘤的MMN患者每年至少应进行一次此类评估。有遗传这种显性疾病风险的亲属，无论其外表是否正常，都应进行类似评估。
