Peculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion.

Autor:	Barros LL; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil., Lima PLGSB; Federal University of Ceara Faculty of Medicine, Fortaleza, Brazil., de Oliveira Júnior PH; Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Brazil., Dias DA; Division of Radiology, Federal University of Ceara, Fortaleza, Brazil., Santos CF; Universidade de Fortaleza, Fortaleza, Brazil.; Hospital Infantil Albert Sabin, Fortaleza, Brazil., Braga-Neto P; State University of Ceara, Fortaleza, Brazil.; Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Brazil., Nóbrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Brazil.; Centro Universitário Christus, Fortaleza, Brazil.
Jazyk:	angličtina
Zdroj:	BMJ neurology open [BMJ Neurol Open] 2024 Jan 18; Vol. 6 (1), pp. e000559. Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2024).
DOI:	10.1136/bmjno-2023-000559
Abstrakt:	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. Competing Interests: Competing interests: No, there are no competing interests. (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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