AI Article Synopsis

  • * A case study of a young man showed symptoms like proptosis and visual impairment due to a significant lesion in the right orbit, leading to the diagnosis of Wyburn-Mason syndrome after ruling out other conditions.
  • * There are important differential diagnoses to consider, and the best treatment for severe cases remains unclear; Wyburn-Mason syndrome should be recognized in patients with multiple arteriovenous malformations affecting the area around the eyes.

Article Abstract

Background: Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first description in 1937.

Case Report: A young adult man was initially evaluated at the age of 2 years for proptosis and progressive visual impairment of the right eye, followed by impairment in ocular abduction, adduction and elevation as well as amaurosis. MRI revealed an expansive formation centred in the right orbit compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit. Despite embolisation, proptosis and oedema of the periorbital tissue continued to worsen. The combination of facial, ocular and intracranial vascular malformations and the exclusion of alternative aetiologies led to a diagnosis of cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (Wyburn-Mason syndrome).

Discussion: Important differential diagnoses are other CAMS, such as Sturge-Weber syndrome, as well as other conditions such as retinal cavernous haemangioma and vasoproliferative tumours. The optimal treatment regimen for severe cases of this syndrome is still unclear. Wyburn-Mason syndrome should be considered in patients presenting multiple arteriovenous malformations with orbital apex lesions.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806852PMC
http://dx.doi.org/10.1136/bmjno-2023-000559DOI Listing

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