124 - diagnose this case 1

1^st case : a 20 year old male presented with chronic constipation, headache and palpitations . on examination he had marfanoid habitus, neuromas of tongue , medullated corneal nerve fibres and nodule of 2 x 2 cms size in the left lobe of thyroid gland . the patient is a case of ?

1. sporadic medullary carcinoma of thyroid
2. familial medullary carcinoma of thyroid ( FMCT )
3. MEN 2a
4. MEN 2b

Answer : d. MEN 2b.

Explanation : the association of medullary carcinoma of thyroid and pheochromocytoma, with mucosal neuromas and marfanoid habitus is designated MEN 2b .

Mucosal neuromas and marfanoid habitus are the most distinctive features of MEN 2b and are recognized in childhood.

True neuromas are present on the tip of the tongue, under the eyelids and throughout the gastrointestinal tract and are tree neuromas distinct from neurofibromas .

1.the features of WERNER syndrome or MEN 1 are :

- parathyroid hyperplasia or adenoma

- pituitary hyperplasia or adenoma

- pancreatic islet cell hyperplasia or adenoma or carcinoma

other less common features of MEN 1 are :

- foregut carcinoid

- pheochromocytoma

- subcutaneous or visceral lipomas

- dermal angiofibromas and

- collagenomas

2. the features of MEN 2a are :

- pheochromocytoma

- medullary carcinoma of thyroid

- parathyroid hyperplasia or adeonoma

other less common features of MEN 2a are : ( chf )

- cutaneous lichen amyloidosis

- hirschsprung disease

- familial medullary thyroid cancer ( FMTC )

3. the features of MEN 2b are :

- medullary thyroid cancer

- pheochromocytoma

- mucosal and gastrointestinal neuromas

less common features of MEN 2b are :

- marfanoid habitus .

--- remember MEN 1 is otherwise called WERNER syndrome and MEN 2 is called SIPPLE syndrome .