Multiple endocrine neoplasia type 2B – clinical case

• Autor(a) principal: Mendes, Rita
• Data de Publicação: 2006
• Outros Autores: Malheiro, Filipa, Santos, Eugénia, Gaspar, Isabel, Torrinha, Joaquim, Raposo, Luís, Madruga, Isabel, Mello e Silva, Alberto
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://revista.spmi.pt/index.php/rpmi/article/view/1647
• topic: MEN 2B; carcinoma medular da tiróide; proto-oncogene RET; MEN 2B; medullary thyroid carcinoma; RET proto-oncogen

We report the case of a 19-year-old white male presenting marfanoid habitus, thickened corneal nerves, neuromas of the tongue and lips, skeletal abnormalities, nodular lesion of the adrenal gland, suggesting non-functioning adenoma, and syringomyelia, who was referred to the department of Internal Medicine to investigate a possible MEN2B syndrome. Medullary thyroid carcinoma with pulmonary and cervical lymph node metastasis was diagnosed. Total thyroidectomy with central lymph node dissection was performed. The molecular study confi rmed the diagnosis of MEN2B, given the presence of the codon 918 in RET exon 16 mutation in chromosome 10.We discuss the need for early diagnosis (sometimes possible because some features of this syndrome are present early in life), aggressive therapy and familial screening, considering the syndrome’s high mortality rate.