Journal Information
Vol. 13. Issue 2.
Pages 128-131 (January 2002)
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Vol. 13. Issue 2.
Pages 128-131 (January 2002)
Medulloblastomas in neurofibromatosis type 1. Case report and literature review
Meduloblastomas en la neurofibromatosis 1. Presentación de un caso y revisión de la literatura
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J.F. Martínez-Lage
, C. Salcedo, M. Corral, M. Poza
Unidad de Neurocirugía Pediátrica. Servicio Regional de Neurocirugía. Hospital Universitario Virgen de la Arríxaca. El Palmar. Murcia
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Summary

A 6-year-old girl, previously diagnosed with neurofibromatosis type 1 (NF-1) presented with ataxia and symptoms of raised intracranial pressure. Diagnostic work up disclosed a posterior fossa tumor. Histopathological study of the excised neoplasm showed a cerebellar medulloblastoma. We review the current lierature and suggest that the association of medulloblastoma with NF-1 is not a chance occurrence, and that it might be pathogenically related. We propose that medulloblastoma should be added to the list of malignancies that are apt to occur in NF-1.

Keywords:
Medulloblastoma
Neurofibromatosis type 1
PNET
Cerebral neoplasms
Chromosomal aberrations
Resumen

Una niña de 6 años, anteriormente diagnosticada de neurofibromatosis 1 (NF-1) fue ingresada con ataxia y síntomas de hipertensión intracraneal. El estudio de la paciente demostró que tenía un tumor de fosa posterior. El diagnóstico anatomopatológico del tumor fue de meduloblastoma. Hemos revisado la bibliografía sobre el tema, y sugerimos que la asociación de meduloblastoma y NF-1 no es fortuita, y que podría estar relacionada en su patogenia. Proponemos que el meduloblastoma debería ser añadido a la lista de tumores que pueden presentarse en pacientes con NF-1

Palabras clave:
Meduloblastoma
Neurofibromatosis-1
Tumor neuroepitelial primitivo
Tumor cerebral
Anomalías cromosómicas

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