Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1

J Child Neurol. 2013 May;28(5):561-9. doi: 10.1177/0883073812448531. Epub 2012 Jul 25.

Abstract

To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiologists. Of 181 children, 80 had pertinent imaging studies: 77 had brain imaging, 6 had peripheral imaging, and 3 had both. Vasculopathy was identified in 14/80 children (18%, minimum prevalence of 14/181; 8%). Of those with vascular abnormalities, 2/14 had peripheral vasculopathy (1% minimum prevalence) and 12/14 had cerebrovascular abnormalities (7% minimum prevalence). No associations were found between vasculopathy and common clinical features of neurofibromatosis type 1, including optic pathway glioma, plexiform neurofibroma, skeletal abnormalities, attention-deficit hyperactivity disorder (ADHD), or suspected learning disability. Both peripheral and cerebral vasculopathy are important complications of pediatric neurofibromatosis type 1 and should be considered in the management of this complex disease.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Angiography
  • Aorta, Abdominal / abnormalities*
  • Aortic Diseases / diagnosis*
  • Aortic Diseases / epidemiology*
  • Arterial Occlusive Diseases / diagnosis*
  • Arterial Occlusive Diseases / epidemiology*
  • Cerebral Angiography
  • Child
  • Child, Preschool
  • Comorbidity
  • Cross-Sectional Studies
  • Disease Progression
  • Female
  • Humans
  • Hypertension / diagnosis*
  • Hypertension / epidemiology*
  • Image Enhancement
  • Ischemic Attack, Transient / diagnosis
  • Ischemic Attack, Transient / epidemiology
  • Magnetic Resonance Angiography
  • Male
  • Moyamoya Disease / diagnosis*
  • Moyamoya Disease / epidemiology*
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / epidemiology*
  • Optic Nerve Glioma / diagnosis
  • Optic Nerve Glioma / epidemiology
  • Stroke / diagnosis
  • Stroke / epidemiology
  • Tomography, X-Ray Computed