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Multiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report
Murillo de Souza Tuckumantel1, Isabela Claudino Altomari2, Camila Manzati Galvani2
1Department of Education, São José do Rio Preto School of Medicine [Faculdade de Medicina de São José do Rio Preto (FAMERP)], São José do Rio Preto, São Paulo, Brazil.
Multiple endocrine neoplasia type 2B (MEN2B) is a rare genetic disorder. Early diagnosis through non-endocrine symptoms can lead to timely intervention for MEN2B, preventing advanced disease.
Area of Science:
- Genetics
- Pediatric Endocrinology
- Rare Diseases
Background:
- Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome.
- Characterized by medullary thyroid carcinoma, pheochromocytoma, and non-endocrine features like marfanoid habits and mucosal neuromas.
- Non-endocrine manifestations can precede endocrine tumors, impacting diagnosis and management.
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