Evans syndrome in child with sudden blindness

Abstract

A 3-year-old girl presented with sudden onset of bilateral vision loss on waking up from sleep. There had been no associated eye pain, eye redness, fever or history of trauma in the days leading up to the presentation. She had been diagnosed with Evans syndrome at the age of 18 months and started on a regular dose of oral prednisolone under regular follow-up at the paediatric clinic. Upon presentation, her visual acuity was light perception bilaterally, with relative afferent pupillary defect in the right eye and sluggish pupils bilaterally. Bilateral fundus examination showed normal macula and pink optic discs without papilloedema. Other systemic examinations were unremarkable. The provisional diagnosis was severe bilateral retrobulbar optic neuritis, prompting further investigations to rule out infectious or vasculitic causes. Extensive investigations were carried out during admission including infective screenings of blood and urine, all of which were negative. A contrasted magnetic resonance image of the brain showed both orbital segments were swollen and appeared hyperintense, with involvement of the intracanalicular and intracranial segments, suggesting an inflammatory or demyelinating aetiology. A visual evoked potential test to rule out demyelination disease was also normal. As intravenous methylprednisolone treatment appeared to have a slow effect, the treatment was switched to intravenous gammaglobulin. The patient responded well to treatment, and her latest visual acuity assessment 1 month after presentation showed bilateral vision of 6/24. This is the first-ever Evans syndrome patient to be reported worldwide with bilateral optic nerve sterile inflammation.