Article Text
PDF
Statistics from Altmetric.com
The triad of concomitant retinal or orbital arteriovenous malformations (AVM), intracranial AVM, and vascular facial naevi were described in the 1940s and comprise a rare phacomatoses known as Wyburn-Mason syndrome. We present a variant of this syndrome with an association not, to our knowledge, previously reported in the literature, and discuss radiological findings, management, and therapeutic options.
Case report
An asymptomatic 14 year old girl was referred following a routine optometry visit. She had been a patient at Great Ormond Street Hospital, London, with a large left cavernous facial haemangioma and had undergone several sclerotherapy injections in the past. Neurologically, there was no history of epilepsy, or evidence of midbrain or cerebellar dysfunction. Ophthalmic examination revealed visual acuities of 6/5 bilaterally with normal intraocular pressures. Colour vision was normal on Ishihara pseudo-isochromatic plates and there were no deficits detected by a Humphrey field analyser 24-2 threshold test. Fundus examination showed markedly convoluted and enlarged retinal vessels in the left eye and a normal fundus picture on the right (fig 1)
Fundus photograph of left posterior pole.
Magnetic resonance imaging (MRI) studies were performed, comprising gadolinium enhanced T1 weighted spin echo coronals with STIR sequences, …