02 بهمن 1400
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 an
1. Gaucher’s disease
2. Multiple endocrine neoplasia type 2B
3. Tuberous sclerosis
4. Familial hypercholesterolemia
5. Marfan’s syndrome
2. Multiple endocrine neoplasia type 2B
3. Tuberous sclerosis
4. Familial hypercholesterolemia
5. Marfan’s syndrome
پاسخ صحیح:
Multiple endocrine neoplasia type 2B
The correct answer is multiple endocrine neoplasia type 2B. Multiple endocrine neoplasia type 2B is an autosomal-dominant syndrome characterized by mucosal neuromas (as seen in this patient), pheochromocytoma, and medullary thyroid carcinoma.