A Conjunctival Vascular Malformation as a Rare Presenting Sign of Wyburn–Mason SyndromeFunding None.
08 June 2017
23 September 2017
06 November 2017 (eFirst)
Wyburn–Mason syndrome is a rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain, and facial skin. A conjunctival vascular dilation can be a rare ocular presenting sign. We report a 6-year-old boy who attended the hospital because of the sudden appearance of a conjunctival vascular lesion in his right eye. Inspection of his facial skin showed a subtle discoloration along the right trigeminal nerve and a vascular structure of the conjunctiva. Fundoscopy showed dilated and tortuous retinal vessels. Brain magnetic resonance imaging (MRI) revealed a large arteriovenous malformation involving the thalamus and perimesencephalic area. Ophthalmologic and neuroradiologic findings were consistent with the diagnosis of Wyburn–Mason syndrome. The sudden emergence of a vascular malformation in the conjunctiva should alert the clinician to perform an ophthalmoscopy, and in our patient, this finding was the clue to diagnosis of Wyburn–Mason syndrome. Because of the association between retinal and intracranial arteriovenous malformations, an MRI of the brain is strongly recommended in all patients with ocular arteriovenous malformations.
- 1 Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology 2007; 49 (05) 445-456
- 2 Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. Surv Ophthalmol 2008; 53 (03) 227-249
- 3 Tlucek PS, Moreau A, Siatkowski RM, Repka MX. A twisted mess. Surv Ophthalmol 2012; 57 (01) 77-82
- 4 Achrol AS, Guzman R, Varga M, Adler JR, Steinberg GK, Chang SD. Pathogenesis and radiobiology of brain arteriovenous malformations: implications for risk stratification in natural history and posttreatment course. Neurosurg Focus 2009; 26 (05) E9
- 5 Hernesniemi JA, Dashti R, Juvela S, Väärt K, Niemelä M, Laakso A. Natural history of brain arteriovenous malformations: a long-term follow-up study of risk of hemorrhage in 238 patients. Neurosurgery 2008; 63 (05) 823-829
- 6 Koenigsberg R. Brain imaging in arteriovenous malformation. October 28, 2015. Available at: http://emedicine.medscape.com/article/337220-overview-showall . Accessed September 25, 2016
- 7 Hartmann A, Mast H, Choi JH, Stapf C, Mohr JP. Treatment of arteriovenous malformations of the brain. Curr Neurol Neurosci Rep 2007; 7 (01) 28-34