A 20 year old male presented with chronic constipation, headache and palpitations. On examination he has marfanoid habitus, neuromas of tongue, medullated corneal nerve fibers and nodule of 2×2 cm size in the left lobe of thyroid gland. This patient is a case of:
Correct Answer: MEN IIB
Description: This patient with complaints of headache and palpitations is suggestive of pheochromocytoma. Constipation could be due to hyercalcaemia secondary to hyperparathyroidism. This along with features of marfanoid habitus and mucosal neuromas all indicate that he is suffering from MEN 2B. Medullary carcinoma of thyroid in MEN 2B develops earlier and is more aggressive than in MEN 2A. Metastatic disease can occur before 1 year of age, and death may occur in the second or third decade of life. Pheochromocytoma occurs in more than half of MEN 2B patients. Hypercalcemia is rare in MEN 2B. The mucosal neuromas and marfanoid body habitus are the most distinctive features and are recognizable in childhood. Neuromas are present on the tip of the tongue, under the eyelids, and throughout the gastrointestinal tract and are true neuromas. Children with these neuromas in GIT presents with intermittent colic, pseudo obstruction, and diarrhea. Ref: Harisson's Internal Medicine, 18th Edition, Chapter 351.
Category:
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