Wyburn-Mason syndrome

Case contributed by Dr Stefan Götschi

Presentation

Surveillance imaging following frequent bleeds.

Patient Data

Age: 40
Gender: Male

MRI Brain

Modality: MRI

Wyburn-Mason syndrome
Right sided multifocal giant AVM maxillo-facial with involvement of the orbito-nasal space as well as partial involvement of the left side. Involvement of the maxilla, zygomatic bone and the sphenoid. Additional hypothalamic AVM. Soft tissue swelling in the right half of the face, in the parotid, masticator and parapharyngeal space. Dilated vessels on the nose. Exophthalmos on both sides.

Head CT

Modality: CT

Wyburn-Mason syndrome, corresponding CT (see MRI).
Note hyperdense embolization material on CT images.

Case Discussion

This case illustrates a known case of Wyburn-Mason syndrome, which is part of a wide spectrum of possible phenotypes included in the CAMS - Craniofacial arteriovenous metameric syndrome.

The syndrome was discovered in this patient at the age of 5 years (then not visible externally). Slow growth over years with recurrent bleeding in increasing frequency. Embolization was done several times during lifetime.

The patient ultimately died of large intracranial haemorrhage in his 40s.

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Case Information

rID: 34985
Case created: 18th Mar 2015
Last edited: 22nd Nov 2016
Inclusion in quiz mode: Included

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