Familial intracranial ependymoma mimicking an extra-lesion: A case report and review of the literature

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Bi Yi ChenTanya Yuen

Abstract

Familial occurrence of intracranial ependymoma, in the absence of neurofibromatosis type 2 (NF2), is very rare with only a few cases reported in the literature. We report a 62-year-old man, who presented with a posterior fossa ependymoma with the majority of the lesion in the cerebellopontine angle, mimicking an extra-axial tumour. His two brothers also had 4th ventricular ependymomas requiring surgical resection. Such cases add weight to the suggestion of a genetically predisposing mutation in familial cases of intracranial ependymomas. Further genetic testing may help to elucidate the location of the genetic abnormality in patients with non-NF2 familial intracranial ependymomas and promote a better understanding of this rare pathological entity.

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