Published online December 29, 2008
PEDIATRICS Vol. 123 No. 1 January 2009, pp. 124-133 (doi:10.1542/peds.2007-3204)
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REVIEW ARTICLE

Neurofibromatosis Type 1 Revisited

Virginia C. Williams, BSa, John Lucas, BSa, Michael A. Babcock, BSa, David H. Gutmann, MD, PhDb, Bruce Korf, MD, PhDc and Bernard L. Maria, MD, MBAa

a Departments of Pediatrics and Neurosciences and Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina
b Department of Neurology, Washington University School of Medicine, St Louis, Missouri
c Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of ~1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1.

Key Words: neurofibromatosis type 1 • neurofibroma • malignant peripheral nerve sheath tumor • neurofibromin

Abbreviations: NF1—neurofibromatosis type 1 • OPG—optic pathway glioma • CTF—Children's Tumor Foundation • MPNST—malignant peripheral nerve sheath tumor • FDG-PET—fluorodeoxyglucose positron emission tomography • ADHD—attention-deficit/hyperactivity disorder • UBO—unidentified bright object • mTOR—mammalian target of rapamycin • nf—neurofibromatosis

Accepted Mar 31, 2008.


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