Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension

Abstract

Four children with syndromic craniosynostosis (Crouzon's syndrome and Apert syndrome) developed irreversible visual loss. Apart from papilledema, there were no other clinical symptoms of intracranial hypertension. Ventriculomegaly or hydrocephalus was present in all cases. Two children were known to have obstructive sleep apnea syndrome. These cases are reported to inform specialists involved in follow-up of children with syndromic craniosynostosis that visual loss can develop suddenly without other symptoms of intracranial hypertension. To prevent visual loss, papilledema should be detected at an early stage and intervention should be instituted promptly. Therefore, periodic funduscopy should be performed in children at risk, such as children with syndromic craniosynostosis and additional hydrocephalus or obstructive sleep apnea syndrome.