Multiple Endocrine Neoplasia Type II B with Simultaneous Papillary Microcarcinoma of Thyroid Gland – A Case Report

Abstract

Multiple endocrine neoplasia (MEN) type II B is a rare disorder and represent 5% of multiple endocrine neoplasia type II. It is characterized by medullary thyroid carcinoma, pheochromocytoma and distinctive external morphological features like marfanoid habitus, mucosal neuromas, thickened eyelids, hypertrophied lips, slender body and proximal muscle wasting. Early diagnosis and surgical interventions for medullary thyroid carcinoma and pheochromocytoma results in improvement in long term survival. We report a case of multiple endocrine neoplasia type II B in a 20 years old male presented with distinct facial appearance, marfanoid habitus, everted eyelids, thick hypertrophied lips, mucosal neuromas and on and off giddiness, sweating and flushing of face. Clinical evaluation revealed sustained hypertension with episodes of superadded paroxysm and thickened corneal nerve on fundoscopic examination. Ultrasound of neck revealed bilateral thyroid nodules with enlarged regional neck glands and enlarged parathyroid glands. Contrast enhanced computerized scan of abdomen revealed a large left sided adrenal tumor. His serum calcitonin & serum and urinary catecholamines were raised with marginal elevation of serum calcium. Upper GI endoscopy revealed a vocal cord nodule. The patient underwent left sided radical adrenalectomy and total thyroidectomy three weeks later, with modified bilateral neck dissection together with parathyroidectomy and implantation of one of the parathyroid in the neck. Histopathology of the adrenal tumor was consistent with pheochromocytoma while thyroid gland was detected to harbor bilateral multicentric medullary carcinoma with simultaneous independent foci of papillary microcarcinoma. The patient is on follow up for last 9 yrs and is doing well.