Neurofibromatose tipo 1 – doença imprevisível?
Palavras-chave:
Neurofibromatose tipo 1, doença de von Recklinghausen, NF1, neurofibromina, manchas café-com-leite, neurofibromas, neurofibrossarcomaResumo
A neurofibromatose tipo 1 (NF1) ou doença de von Recklinghausen, descrita pela primeira vez em 1882, é a mais frequente das
síndromes neurocutâneas.
É uma das doenças genéticas mais comuns, cujo gene responsável se localiza no braço longo do cromossoma 17, com uma incidência de 1/2500, de transmissão autossómica dominante, em
que metade dos casos são familiares e os restantes esporádicos.
O diagnóstico baseia-se na presença de pelo menos 2 de 7
critérios estabelecidos na Conferência de Consenso do National
Institute of Health de Bethesda, em 1987.
Se o diagnóstico no adulto é fácil, nas crianças as manchas
café-com-leite podem ser durante muito tempo o único sinal,
mantendo o diagnóstico muitas vezes suspenso.
Para além das típicas manchas café-com-leite e dos neurofibromas existe um risco acrescido de incidência de neoplasias
malignas, nomeadamente, de tumores malignos da baínha dos
nervos periféricos, também denominados schwannomas ou
neurofibrossarcomas.
Estes neurofibrossarcomas têm menor resposta ao tratamento
convencional do cancro, admitindo-se como responsáveis pela
sua maior agressividade diversos factores genéticos.
As neoplasias malignas são a principal causa de morte na NF1,
estando associadas a mortalidade em idade jovem de que o caso
que descrevemos é exemplo.
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Referências
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