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

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.

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.

Hearing Restoration in Neurofibromatosis Type II Patients

Patients with neurofibromatosis type II will eventually succumb to bilateral deafness. For patients with hearing loss, modern medical science technology can provide efficient hearing restoration through a number of various methods. In this article, several hearing restoration methods for patients with neurofibromatosis type II are introduced.

An Experience of Early Surgical Intervention for Neurofibromatosis Type II / 대한이비인후과학회지

Neurofibromatosis type II(NF2) is clinically characterized by the presence of bilateral vestibular schwannomas. The exclusive goal in management of NF2 patients is hearing preservation. It has been controversial to determine whether to wait and see or to try early surgical management for hearing preservation. The authors experienced a case of vestibular schwannoma in association with NF2, which was partially removed and decompressed via middle fossa approach with hearing preservation. Based on our experience, we recommend a new strategy for hearing preservation on early surgical intervention of vestibular schwannoma. The criterias of the patient include (1) bilateral normal or serviceable hearing: (2) small sized tumorand: (3) young age. We suggest that the early surgical intervention including decompression may be considered for the hearing preservation especially on the favorable side to approach.