Neoplasia endócrina múltipla Tipo 2B – caso clínico

Autores

  • 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

Palavras-chave:

MEN 2B, carcinoma medular da tiróide, proto-oncogene RET

Resumo

Descreve-se o caso de um doente de 19 anos, sexo masculino,
raça caucasiana, com habitus marfanóide, hipertrofia dos nervos
da córnea, neuromas dos lábios e da língua, alterações músculo-esqueléticas, aumento da glândula supra-renal esquerda com
expressão nodular compatível com adenoma não funcionante e
seringomielia, pelo que foi referenciado à consulta de Medicina
Interna por suspeita de Neoplasia Endócrina Múltipla (MEN 2B).
Do estudo do doente destaca-se o diagnóstico de carcinoma
medular da tiróide (CMT) com metastização ganglionar cervical e
pulmonar, tendo sido submetido a tiroidectomia total, com várias
complicações no pós-operatório. O estudo molecular revelou
a presença de mutação no codão 918 do exão 16 do protooncogene RET localizado no cromossoma 10, que confirmou o
diagnóstico de MEN2B.
Discute-se a necessidade de um diagnóstico precoce, dada a
existência de alterações já presentes na infância e adolescência,
de terapêutica agressiva e rastreio familiar tendo em conta a elevada mortalidade destas síndromes.

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Publicado

29-09-2006

Como Citar

1.
Mendes R, Malheiro F, Santos E, Gaspar I, Torrinha J, Raposo L, Madruga I, Mello e Silva A. Neoplasia endócrina múltipla Tipo 2B – caso clínico. RPMI [Internet]. 29 de Setembro de 2006 [citado 22 de Julho de 2024];13(3):197-202. Disponível em: https://revista.spmi.pt/index.php/rpmi/article/view/1647

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