Brazilian Neurosurgery (Mar 2017)

Cervicomedullary Junction Ependymoma Associated with Neurofibromatosis Type II: Case Report and Literature Review

  • Otavio Turolo da Silva,
  • Carlos Eduardo Vasconcelos Miranda,
  • Andrei Fernandes Joaquim,
  • Luciano de Souza Queiroz,
  • Enrico Ghizoni,
  • Helder Tedeschi

DOI
https://doi.org/10.1055/s-0036-1597574
Journal volume & issue
Vol. 36, no. 01
pp. 54 – 57

Abstract

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Abstract Neurofibromatosis type II (NF2) is a rare autosomal dominant inherited disease caused by a mutation in chromosome 22q12 and associated with multiple central nervous system tumors. In this paper, we describe a rare case of cervicomedullary junction ependymoma associated with NF2 in a 25-year-old man who underwent surgical treatment with total resection and had a good clinical outcome. We discussed the nuances of the surgical resection and the literature concerning this rare form of presentation of NF2.

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