CC BY-NC-ND 4.0 · Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 2017; 36(01): 54-57
DOI: 10.1055/s-0036-1597574
Case Report | Relato de Caso
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

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

Ependimoma da junção cervicobulbar associado a Neurofibromatose tipo II: relato de caso e revisão de literatura
Otavio Turolo da Silva
1   Neurosurgery Resident, Neurology Departament, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil
,
Carlos Eduardo Vasconcelos Miranda
1   Neurosurgery Resident, Neurology Departament, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil
,
Andrei Fernandes Joaquim
2   Neurosurgery Assistant, Neurology Departament, Unicamp, Campinas, SP, Brazil
,
Luciano de Souza Queiroz
3   Professor of Pathology, Pathology Departament, Unicamp, Campinas, SP, Brazil
,
Enrico Ghizoni
4   Professor of Neurosurgery, Neurology Departament, Unicamp, Campinas, SP, Brazil
,
Helder Tedeschi
4   Professor of Neurosurgery, Neurology Departament, Unicamp, Campinas, SP, Brazil
› Author Affiliations
Further Information

Publication History

10 October 2016

09 November 2016

Publication Date:
30 December 2016 (online)

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.

Resumo

Neurofibromatose tipo II (NF2) é uma doença autossômica dominante provocada por uma mutação no cromossomo 22q12, e que está relacionada ao surgimento de múltiplos tumores do sistema nervoso central. Neste artigo, é descrito um caso raro de um paciente com 25 anos de idade submetido ao tratamento cirúrgico de um ependimoma da junção cervicobulbar, com ressecção total “en bloc” e bom resultado clínico. Discutimos as nuances da ressecção cirúrgica, bem como a literatura sobre o tratamento destas lesões raras.

 
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