Cervicomedullary Junction Ependymoma Associated with Neurofibromatosis Type II: Case Report and Literature Review
Arq. bras. neurocir
;
36(1): 54-57, 06/03/2017.
Article
in English
| LILACS
| ID: biblio-911137
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Neurofibromatosis 2
/
Ependymoma
Type of study:
Risk factors
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Arq. bras. neurocir
Journal subject:
Cirurgia
/
Neurosurgery
Year:
2017
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Neurosurgery Assistant, Neurology Departament, Unicamp/BR
/
Neurosurgery Resident, Neurology Departament, Universidade Estadual de Campinas (Unicamp)/BR
/
Professor of Neurosurgery, Neurology Departament, Unicamp/BR
/
Professor of Pathology, Pathology Departament, Unicamp/BR
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