Cerebral Vasculopathy in Children with Neurofibromatosis Type 1

SIMPLE SUMMARY: Neurofibromatosis type 1 is a common autosomal dominant inherited condition, with variable phenotype among affected individuals. Abnormalities of the cerebral vasculature are an acknowledged but poorly understood complication, leading to high morbidity and mortality for individuals with neurofibromatosis type 1. The current review discusses the different types of cerebral vasculopathy, the clinical presentation and diagnosis, followed by proposed pathogenesis. Medical and surgical management options are presented, with a goal to prevent lasting neurologic injury. ABSTRACT: Cerebrovascular abnormalities are a severe and often underrecognized complication of childhood neurofibromatosis type 1 (NF1). There are no prospective studies of cerebral vasculopathy in NF1; thus, the estimated frequency of vasculopathy varies between studies. The data is difficult to interpret due to the retrospective data collection and variability in whether imaging is done based on screening/surveillance or due to acute neurologic symptoms. The prevalent NF1-associated cerebral vasculopathy is moyamoya syndrome (MMS). Vascular changes can present without symptoms or with acute TIA or stroke-like symptoms or a range of progressive neurologic deficits. Advanced imaging may enhance sensitivity of neuroimaging in children. Medical and/or surgical interventions may prevent short- and long-term complications. Challenges for establishment of a screening protocol for cerebral vasculopathy in children with NF1 include the relatively large number of patients with NF1, the potential need for sedation to achieve quality imaging and the broad age range at time of detection for cerebral vascular changes. The goal of this review is to present the epidemiology, clinical presentation, imaging features and medical/surgical management of cerebral arteriopathies in children with NF1.