Cerebral vasculopathy in children with neurofibromatosis type 1

J Child Neurol. 2013 Jan;28(1):95-101. doi: 10.1177/0883073812441059. Epub 2012 Apr 24.

Abstract

Cerebral vasculopathy is an important but underrecognized complication of neurofibromatosis type 1. Over a 10-year period, we retrospectively assessed the prevalence, clinical manifestations, management, and outcome of cerebral vasculopathy in children with neurofibromatosis type 1. Magnetic resonance imaging (MRI) of the brain was performed on 78% of the patients (312/398) of which 46% (143/312) had magnetic resonance angiography of the intracranial arteries; 4.8% (15/312) had cerebral vasculopathy. Approximately half were asymptomatic at presentation; none had neurologic deficits. Cerebral vasculopathy included moyamoya changes (7) and stenosis/occlusion of major intracranial arteries (8). On follow-up (mean 4 years), 2 patients developed radiologic progression; 1 was treated with aspirin alone, whereas another underwent revascularization surgery. Although cerebral vasculopathy in neurofibromatosis type 1 may be asymptomatic at presentation, there may be radiologic and clinical progression leading to morbidity and mortality. Magnetic resonance angiography should be considered with brain MRI for early detection and timely intervention of cerebral vasculopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cerebral Cortex / pathology*
  • Cerebrovascular Disorders / etiology*
  • Cerebrovascular Disorders / pathology*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Image Processing, Computer-Assisted
  • Infant
  • Longitudinal Studies
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Male
  • Neurofibromatosis 1 / complications*
  • Retrospective Studies