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

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...

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Veröffentlicht in:Arquivos brasileiros de neurocirurgia 2017-03, Vol.36 (1), p.54-57
Hauptverfasser: Silva, Otavio Turolo da, Miranda, Carlos Eduardo Vasconcelos, Joaquim, Andrei Fernandes, Queiroz, Luciano de Souza, Ghizoni, Enrico, Tedeschi, Helder
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Sprache:eng
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Zusammenfassung: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.
ISSN:0103-5355
2359-5922
DOI:10.1055/s-0036-1597574