Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1

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.

[1]  G. Gioia,et al.  Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study. , 2011, Pediatric neurology.

[2]  G. deVeber,et al.  Cerebral Arteriopathy in Children With Neurofibromatosis Type 1 , 2009, Pediatrics.

[3]  R. Berguer,et al.  From the Midwestern Vascular Surgical Society Abdominal aortic coarctation : Surgical treatment of 53 patients with a thoracoabdominal bypass , patch aortoplasty , or interposition aortoaortic graft , 2008 .

[4]  D. Clapp,et al.  Nf1+/- mice have increased neointima formation via hyperactivation of a Gleevec sensitive molecular pathway. , 2008, Human molecular genetics.

[5]  K. North,et al.  Cerebrovascular dysplasia in neurofibromatosis type 1 , 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

[6]  J. Epstein,et al.  NF1 Regulates a Ras-Dependent Vascular Smooth Muscle Proliferative Injury Response , 2007, Circulation.

[7]  A. Stanson,et al.  Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. , 2007, Journal of vascular surgery.

[8]  R. Ferner.  Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective , 2007, The Lancet Neurology.

[9]  D. Driscoll,et al.  Middle aortic syndrome: surgical treatment in a child with neurofibromatosis. , 2005, Journal of vascular surgery.

[10]  E. Criado,et al.  Renal artery stenosis and aneurysms associated with neurofibromatosis. , 2005, Journal of vascular surgery.

[11]  R. Packer,et al.  Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1 , 2005, Neurology.

[12]  National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents , 2004, Pediatrics.

[13]  B. Rosner,et al.  The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents , 2004 .

[14]  S. Wilson,et al.  Original scientific articleMiddle aortic syndrome: distal thoracic and abdominal coarctation, a disorder with multiple etiologies1 , 2002 .

[15]  B. McManus,et al.  Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force , 2002, Genetics in Medicine.

[16]  E. Criado,et al.  Abdominal Aortic Coarctation, Renovascular, Hypertension, and Neurofibromatosis , 2002, Annals of vascular surgery.

[17]  C. Romano,et al.  Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. , 2000, American journal of medical genetics.

[18]  J. Friedman,et al.  Insights into the pathogenesis of neurofibromatosis 1 vasculopathy , 2000, Clinical genetics.

[19]  C. Sainte-Rose,et al.  Radiation‐induced cerebral vasculopathy in children with neurofibromatosis and optic pathway glioma , 1999, Annals of neurology.

[20]  D. Louis,et al.  Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. , 1997, Annals of neurology.

[21]  P. John,et al.  Hypertension secondary to progressive vascular neurofibromatosis , 1997, Archives of disease in childhood.

[22]  J. Hersh.  Health Supervision for Children With Neurofibromatosis , 1995, Pediatrics.

[23]  D. Gutmann,et al.  Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle , 1995, Neurobiology of Disease.

[24]  T. Kent,et al.  Neurofibromatosis 1 mRNA expression in blood vessels. , 1993, Biochemical and biophysical research communications.

[25]  M. Modic,et al.  Magnetic resonance angiography of the intracranial vasculature , 1991, Topics in magnetic resonance imaging : TMRI.

[26]  Margaret Robertson,et al.  The neurofibromatosis type 1 gene encodes a protein related to GAP , 1990, Cell.

[27]  P. O'Connell,et al.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations , 1990, Cell.

[28]  S. Kotagal,et al.  Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome. , 1988, Pediatric neurology.

[29]  R. Winter,et al.  Adolescent idiopathic scoliosis , 1991, The Lancet.

[30]  J. Friedman,et al.  Clinical and genetic aspects of neurofibromatosis 1 , 2010, Genetics in Medicine.