AI Summary & Key Takeaways
AI InsightHerein we present a case of a patient who was hospitalised several times due to diarrhea but did not diagnosed, but when he referred to our clinic diagnosed as MEN 2B, on the basis of bilateral pheochromocytoma, medullary thyroid carcinoma, multiple paragangliomas located along the spine, marfanoid features of body habitus and mucosal neuromas.
📌 3 Key Takeaways
Abstract
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant process characterized by medullary thyroid carcinoma, pheochromocytoma, physical features such as presence of marfanoid habitus and mucosal neuromas. Clinical features are hypertension, episodic sweating, diarrhea, pruritic skin lesions or compressive symptoms from a neck mass. Patients with hypercalcemia may present with constipation, polyuria, polydipsia, memory problems, depression, nephrolithiasis, glucose intolerance, gastroesophageal reflux and fatigue, or they may have no symptoms. Herein we present a case of a patient who was hospitalised several times due to diarrhea but did not diagnosed, but when he referred to our clinic diagnosed as MEN 2B, on the basis of bilateral pheochromocytoma, medullary thyroid carcinoma, multiple paragangliomas located along the spine, marfanoid features of body habitus and mucosal neuromas.
Özet
Multipl endokrin neoplazi tip 2B (MEN 2B) otozomal dominant geçişli, medüller tiroid kanseri, feokromositoma, marfanoid görünüm ve mukozal nöromlarla karakterize bir sendromdur. Hastalık zamanı esas semptomlar; hipertansiyon, aşırı terleme, ishal, cilt lezyonları, boyun kitlesine bağlı kompressiyon, hiperkalsemiye bağlı poliuri, polidipsi, depresyon, böbrek taşı ve gastroezofajial reflüdür. Bu yazıda, pek çok kez tek bir diyare şikayeti nedeniyle hospitalize edilse de tanısı konulamamış, kliniğimize başvurduğunda bilateral feokromositoma, medüller tiroid kanseri, marfanoid görünüm, mukozal nörinomlar, sırtta paragangliomlar nedeniyle MEN 2B sendromu tanısı alan bir olgu sunulmaktadır.