Rakover Y, Dharan M, Luboshitsky R
Endocrine Unit, Central Emek Hospital, Afula, Israel.
J Pediatr Endocrinol. 1994 Oct-Dec;7(4):373-7. doi: 10.1515/jpem.1994.7.4.373.
We present two siblings with neonatal Hirschsprung's disease in whom isolated familial medullary carcinoma of the thyroid was diagnosed at the age of 16 and 19 years. Rectal biopsy in each patient revealed total absence of ganglion cells in the myenteric plexus and hypertrophied nerve fibers characteristic of Hirschsprung's disease. Both underwent total thyroidectomy and histological examination revealed bilateral and multifocal medullary carcinoma of the thyroid. These two patients belong to a large family in whom another 12 affected members with medullary carcinoma of the thyroid were found. Our description is the first report of an association between Hirschsprung's disease and isolated familial medullary carcinoma of the thyroid. We suggest that familial occurrence of Hirschsprung's disease could be an early presentation of familial medullary carcinoma of the thyroid either as the isolated form or as part of multiple endocrine neoplasia type IIa or IIb.
我们报告了两名患有新生儿先天性巨结肠症的兄弟姐妹，他们分别在16岁和19岁时被诊断出患有孤立性家族性甲状腺髓样癌。每位患者的直肠活检均显示肌间神经丛中完全没有神经节细胞，且有先天性巨结肠症特有的神经纤维肥大。两人均接受了甲状腺全切术，组织学检查显示双侧多灶性甲状腺髓样癌。这两名患者属于一个大家庭，在这个家庭中还发现了另外12名患有甲状腺髓样癌的成员。我们的描述是先天性巨结肠症与孤立性家族性甲状腺髓样癌之间关联的首次报告。我们认为，家族性先天性巨结肠症可能是家族性甲状腺髓样癌的早期表现，既可以是孤立形式，也可以是IIa型或IIb型多发性内分泌腺瘤病的一部分。
