Concomitant moyamoya syndrome and infratentorial arteriovenous malformation in a neurofibromatosis type 1 patient: a case report

Abstract

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder with diverse phenotypic manifestations. Cerebral vasculopathy is one of the multisystem involvements often overlooked unless symptomatic. Case Report: A 28-year-old male patient with prolonged NF1 complained of right-hand position-specific rhythmic tremor after surviving an ipsilateral cerebellar arteriovenous malformation (AVM) hemorrhagic transformation. Not only did he suffer rupture of the infratentorial vasculopathy but he also endured asymmetric supratentorial occlusive vessel changes in Moyamoya syndrome. Due to contralateral limb clumsiness, his right hemispheric vasculature was revascularized by encephaloduroarteriosynangiosis 13 years before the AVM rupture.Conclusion: This case report describes exceptional NF1 CNS involvement where the cerebral vasculature had concomitant Moyamoya syndrome and unilateral cerebellar AVM in a single patient. Cerebral vasculopathy should be surveyed and adequately addressed during the follow-up of chronic NF1, as it can cause irreversible sequelae or can be life-threatening.