Cerebral arteriopathy in children with neurofibromatosis type 1

Cerebrovascular abnormalities are serious but underrecognized complications of neurofibromatosis type 1 (NF1). The aim of this study was to investigate the prevalence, clinical presentation, imaging findings, and prognosis of cerebral arteriopathies in childhood NF1.

Patients followed at the NF1 clinic at the Hospital for Sick Children, Toronto, Ontario, Canada, between 1990 and 2007 were studied. Patients with confirmed NF1 diagnosis and neuroimaging results were included. All neuroimaging studies were reviewed for the presence of arteriopathy by 2 study pediatric neuroradiologists blinded to clinical information. Clinical records of children with cerebral arteriopathy were reviewed.

Among 419 children with confirmed NF1, 266 (63%) received neuroimaging. Among children with neuroimaging results, 17 had cerebral arteriopathy (minimum prevalence rate of 6%). Among the 35 patients who received magnetic resonance angiography (MRA), arteriopathy was more common in patients with NF1 with optic gliomas (11 of 21) compared with those without optic glioma (4 of 14). Forty-seven percent of children developed focal deficits months to years after the diagnosis of the arteriopathy. Follow-up at a mean of 7 years after diagnosis of arteriopathy showed that 35% (6 of 17) had progressive arteriopathy requiring revascularization surgery. Seven patients received aspirin for primary stroke prevention. On retrospective review of imaging studies, a mean delay of 51 months to clinical radiographic reporting of these findings was observed.

The prevalence of cerebral arteriopathy in children with NF1 in this study was at least 6% and was associated with young age and optic glioma. Arteriopathy causes stroke with resultant neurologic deficits. Medical and/or surgical interventions may prevent these complications. Therefore, the addition of vascular imaging (MRA/conventional angiography) to brain imaging studies for early detection of arteriopathy should be considered for children with NF1, particularly young patients with optic glioma.