Int J Thyroidol.  2016 Nov;9(2):204-209. 10.11106/ijt.2016.9.2.204.

Multiple Endocrine Neoplasia Type 2B Diagnosed Early by Conjunctival Neuroma: a Case Report

• Kim DH
• Jang YS
• Kang SR
• Lim DM

• KMID: 2362360
• DOI: http://doi.org/10.11106/ijt.2016.9.2.204

Abstract

Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant disorder characterized by medullary thyroid cancer, pheochromocytoma, neuroma and Marfanoid feature. Medullary thyroid cancer occurs in more than 95% patients of MEN 2B and increases mortality. So, the early diagnosis of multiple endocrine neoplasia is very important, because in the early diagnosed and treated medullary thyroid cancer, the prognosis is excellent. This is a case of multiple endocrine neoplasia type 2B that diagnosed early by conjunctival neuroma. A 15-year-old female patient was presented with both conjunctival masses that occurred 6 months ago. The excisional biopsy revealed conjunctival neuroma. The multiple endocrine tumor was suspected, further evaluation was performed. Medullary thyroid cancer was confirmed by thyroid ultrasound and fine needle aspiration. Finally, MEN type 2B was confirmed by a RET mutation genetic testing.

Keyword

Conjuctival neuroma; Multiple endocrine neoplasia type 2B

MeSH Terms

Adolescent
Biopsy
Biopsy, Fine-Needle
Early Diagnosis
Female
Genetic Testing
Humans
Male
Mortality
Multiple Endocrine Neoplasia Type 2b*
Multiple Endocrine Neoplasia*
Neuroma*
Pheochromocytoma
Prognosis
Thyroid Gland
Thyroid Neoplasms
Ultrasonography

Figure

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  Fig. 1. Photography of tongue and conjunctiva. (A) The facial appearance of patient was characterized by Marfanoid feature. (B) Patient' s tongue had multiple nodules. (C) Small nodules were seen on the conjunctiva.

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  Fig. 2. 131-I MIBG scan. 131-I MIBG tumor scan showed bilateral progressive increased MIBG uptake in both thyroid glands and mild increased uptake in left sup-rarenal area on 72 hours image (arrows).

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  Fig. 3. Thyroid ultrasonography. (A) 1-cm-sized irregular hypoechoic nodule was seen in midpole of right thyroid gland. (B) About 5-mm-sized hypoechoic nodule was seen in midpole of left thyroid gland.

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  Fig. 4. Pathologic finding. (A) The specimen showed round or polygonal cells with amyloid deposit (H&E stain, ×400). (B) The specimen showed positive immunostain for calcitonin (immunohistochemical stain, ×400).

Reference

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