PDF herunterladen
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
› Institutsangaben
Weitere Informationen

Publikationsverlauf

10. Oktober 2016

09. November 2016

Publikationsdatum:
30. Dezember 2016 (online)

Auch verfügbar auf
   Lizenzen und Reprints

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.

Keywords

neurofibromatosis type II - ependymoma - surgery

Palavras-chave

neurofibromatose tipo II - ependimoma - cirurgia
 

  • References

  • 1 Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986; 322 (6080): 644-647
    CrossrefPubMedSuche in Google Scholar
  • 2 Rouleau GA, Wertelecki W, Haines JL. , et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987; 329 (6136): 246-248
    CrossrefPubMedSuche in Google Scholar
  • 3 Martuza RL, Eldridge R. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med 1988; 318 (11) 684-688
    CrossrefPubMedSuche in Google Scholar
  • 4 Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994; 52 (04) 450-461
    CrossrefPubMedSuche in Google Scholar
  • 5 Ferrer M, Schulze A, Gonzalez S. , et al. Neurofibromatosis type 2: molecular and clinical analyses in Argentine sporadic and familial cases. Neurosci Lett 2010; 480 (01) 49-54
    CrossrefPubMedSuche in Google Scholar
  • 6 Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002; 59 (11) 1759-1765
    CrossrefPubMedSuche in Google Scholar
  • 7 Louis DN, Ohgaki H, Wiestler OD. , et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 2007; 114 (02) 97-109
    CrossrefPubMedSuche in Google Scholar
  • 8 Hagel C, Stemmer-Rachamimov AO, Bornemann A. , et al. Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas. Neuropathology 2012; 32 (06) 611-616
    CrossrefPubMedSuche in Google Scholar
  • 9 Aguilera DG, Mazewski C, Schniederjan MJ, Leong T, Boydston W, Macdonald TJ. Neurofibromatosis-2 and spinal cord ependymomas: Report of two cases and review of the literature. Childs Nerv Syst 2011; 27 (05) 757-764
    CrossrefPubMedSuche in Google Scholar
  • 10 Plotkin SR, O'Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP. Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients. J Neurosurg Spine 2011; 14 (04) 543-547
    CrossrefPubMedSuche in Google Scholar
  • 11 Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A. Management of spinal tumors in neurofibromatosis type 2 patients. Neurol Neurochir Pol 2016; 50 (01) 31-35
    PubMedSuche in Google Scholar
  • 12 Cepeda S, Hernández-Laín A, Munarriz PM, Martínez González MA, Lagares A. Spinal tanycytic ependymoma associated with neurofibromatosis type 2. Clin Neuropathol 2014; 33 (04) 311-314
    PubMedSuche in Google Scholar