A rare occurrence and management of familial schwannomatosis

We are presenting a familial schwannomatosis without the features of neurofibromatosis (NF). We retrospectively reviewed the hospital charts, radiology films, operative notes and pathology slides of the patient. There was a family history of schwannomatosis. The patient had contrast-enhanced MRI, wh...

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Bibliographic Details
Published in:BMJ Case Reports 2013, Vol.2013
Main Authors: Reddy, Ramesh G, Banda, Vanaja Reddy, Gunadal, Shankar, Banda, Naveen Reddy
Format: Report
Language:English
Online Access:Get full text
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Summary:We are presenting a familial schwannomatosis without the features of neurofibromatosis (NF). We retrospectively reviewed the hospital charts, radiology films, operative notes and pathology slides of the patient. There was a family history of schwannomatosis. The patient had contrast-enhanced MRI, which was negative for vestibular schwannomas. The patient underwent surgical excision of symptomatic lesions. Histopathology confirmed these lesions as schwannomas consisting of areas of Antoni A and B, and immunohistochemical study was positive for S-100 protein. We recommend surgery for symptomatic lesions. Asymptomatic tumours can be monitored. Regular follow-up is essential as they may develop fresh lesions at any time. The relevant literature is discussed.
ISSN:1757-790X
DOI:10.1136/bcr-2013-008843