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Neuroradiology
Published in: Neuroradiology 5/2007

01-05-2007 | Paediatric Neuroradiology

A case report of Wyburn-Mason syndrome and review of the literature

Authors: P. N. Dayani, A. A. Sadun

Published in: Neuroradiology | Issue 5/2007

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Abstract

Introduction

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi.

Methods

We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973.

Results

In this review, we report on a 4½-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome.

Conclusion

The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.
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Metadata
Title
A case report of Wyburn-Mason syndrome and review of the literature
Authors
P. N. Dayani
A. A. Sadun
Publication date
01-05-2007
Publisher
Springer-Verlag
Published in
Neuroradiology / Issue 5/2007
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-006-0205-x

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