Multiple endocrine neoplasia type IIb: a case report.

Abstract

We reported a 14-year-old boy who had had multiple thyroid nodules for 4 yrs. Physical examination revealed marfanoid habitus, coarse facies with thick lips and prominent jaw. Mucosal neuromas were present on the buccal mucosa, tongue and upper eyelids. Thyroid scan demonstrated multiple, cold nodules and medullary thyroid carcinoma was confirmed by pathological examination. He was normotensive and his 24 hrs urinary vanillyl mandelic acid was in the normal range. Computerized tomography demonstrated normal adrenal glands. Multiple endocrine neoplasia type IIb (MEN IIb) was diagnosed by the appearance of typical phenotypic features, multiple mucosal neuromas and medullary thyroid carcinoma. The scarcity of such reports in children and the importance of early recognition of this disorder prompted us to describe this patient.