Tongue Bumps & Marfanoid Habitus

A 7-year-old boy presents with painless tongue nodules, Developmental delay, and a marfanoid habitus. Explore the differential for this unique syndrome.

Multiple endocrine neoplasia type 2B


A 7-year-old boy presented to the pediatric otolaryngology clinic with a 3-year history of multiple firm, painless, slow-growing nodules on his tongue. He had a history of mild developmental delay, and a physical examination showed a high arched palate and marfanoid habitus. What is the most likely underlying diagnosis?

What is the most likely diagnosis?

Gaucher’s disease
Multiple endocrine neoplasia type 2B
Tuberous sclerosis
Familial hypercholesterolemia
Marfan’s syndrome

Medullary thyroid carcinoma, Mucosal neuroma, Multiple endocrine neoplasia type 2B, Pheochromocytoma, RET proto-oncogene

Leave a Comment