Titel | Case report: a conjunctival hemangioma as a presenting sign of Wyburn-Mason syndrome |
Abstract Nr. | 3034 |
Doel | Wyburn-Mason syndrome is a very rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain and facial skin. A conjunctival vascular dilation is a very rare presenting sign. Because of the association between retinal and intracranial arteriovenous malformations, a magnetic resonance imaging (MRI) of the brain is strongly recommended in all patients with ocular arteriovenous malformations. |
Methodes | / |
Resultaten | A 6-year-old boy was referred for further ophthalmoscopic evaluation because of a sudden appearance of a conjunctival vascular lesion in his right eye since 3 months (Figure 1). Inspection of the facial skin revealed a subtle discoloration along the right trigeminal nerve (Figure 2) since birth. Fundoscopy showed a dilated retinal vessel in the nasal quadrant of the right eye with tortuosity (Figure 3). To exclude a central nervous system vascular malformation a brain MRI was performed, revealing an old hemorrhage in the right lentiform nucleus and capillary vessels in the thalami (Figure 4), as well as a small arteriovenous malformation involving the right orbit (Figure 5). A cerebral angiogram showed multiple small arteries surrounding the brainstem (Figure 6). Ophthalmologic and neuroradiologic findings were consistent with the diagnosis of Wyburn-Mason syndrome. Because of the extensiveness and inaccessibility of the intracranial arteriovenous malformations, the boy was managed conservatively by observation. |
Conclusie | Ocular manifestations of the Wyburn-Mason syndrome can easily be detected and are usually an important clue to the diagnosis. The sudden emergence of a conjunctival vascular structure should alert the treating doctor to perform an ophthalmoscopy and MRI of the brain. |
Belangenverstrengeling | Nee |
Naam | KNOORS |
Initialen | L |
Instituut | UZ Leuven |
Stad | Leuven |
Naam | CASTEELS |
Initialen | I |
Instituut | UZ Leuven |
Stad | Leuven |