Multiple Endocrine Neoplasia Type 2b: A Rare Case Report
Abstract
Multiple endocrine neoplasia Type 2b is a rare syndrome caused by mutations in RET proto oncogene. It is a rare case, which
is found 1 in 30,000. We report a case of 23-year-old male patient with goiter, right lower chest pain, paroxysmal spells and
hypertension. On examination, mucosal neuromas and Grade 2 hard goiter were observed. Patient’s thyroid profi le was normal.
Fine-needle aspiration cytology thyroid showed medullary carcinoma of the thyroid. Calcitonin levels were found to be elevated.
Contrast enhanced computed tomography neck showed 28 mm × 20 mm heterogeneous mass in the right lobe of the thyroid.
Histopathology and immune histochemistry confi rmed the pheochromocytoma.
References
Clinics (Sao Paulo) 2012;67 Suppl 1:7-11.
2. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C,
et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin
Endocrinol Metab 2001;86:5658-71.
3. Williams ED, Pollock DJ. Multiple mucosal neuromata with endocrine
tumours: A syndrome allied to von Recklinghausen’s disease. J Pathol
Bacteriol 1966;91:71-80.
4. Brauckhoff M, Gimm O, Weiss CL, Ukkat J, Sekulla C, Brauckhoff K, et al.
Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation:
Clinical manifestation and course in early and late onset disease. World J
Surg 2004;28:1305-11.
5. Gorlin RJ, Cohen MM, Levin LS. Hamartoneoplastic syndromes. In:
Syndromes of the Head and Neck. New York: Oxford University Press;
1990. p. 385-92.
6. Schenberg ME, Zajac JD, Lim-Tio S, Collier NA, Brooks AM, Reade PC.
Multiple endocrine neoplasia syndrome--type 2b. Case report and review.
Int J Oral Maxillofac Surg 1992;21:110-4.
7. Block MA. Surgical treatment of medullary carcinoma of the thyroid.
Otolaryngol Clin North Am 1990;23:453-73.