Multiple endocrine neoplasia type 2B – clinical case

Authors

  • Rita Mendes Interna do Internato Complementar de Medicina Interna - Serviço de Medicina I – Hospital de Egas Moniz
  • Filipa Malheiro Interna do Internato Complementar de Medicina Interna - Serviço de Medicina I – Hospital de Egas Moniz
  • Eugénia Santos Assistente Hospitalar de Medicina Interna - Serviço de Medicina I – Hospital de Egas Moniz
  • Isabel Gaspar Assistente Hospitalar de Genética Médica - Serviço de Genética Médica – Hospital de Egas Moniz
  • Joaquim Torrinha Assistente Hospitalar Graduado de Cirurgia Geral - Serviço de Cirurgia Geral II – Hospital de Egas Moniz
  • Luís Raposo Assistente Hospitalar Graduado de Endocrinologia – Serviço de Endocrinologia – Hospital de Egas Moniz
  • Isabel Madruga Assistente Hospitalar Graduada de Medicina Interna – Serviço de Medicina I – Hospital de Egas Moniz
  • Alberto Mello e Silva Chefe de Serviço de Medicina Interna e Director do Serviço de Medicina I – Hospital de Egas Moniz

Keywords:

MEN 2B, medullary thyroid carcinoma, RET proto-oncogen

Abstract

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.

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Additional Files

Published

2006-09-29

How to Cite

1.
Mendes R, Malheiro F, Santos E, Gaspar I, Torrinha J, Raposo L, Madruga I, Mello e Silva A. Multiple endocrine neoplasia type 2B – clinical case. RPMI [Internet]. 2006 Sep. 29 [cited 2024 May 18];13(3):197-202. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/1647

Issue

Vol. 13 No. 3 (2006): Julho/ Setembro

Section

Case Reports

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