RECENT INSIGHTS INTO NEUROFIBROMATOSIS TYPE-1 - CLEAR GENETIC PROGRESS

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurogen etic disorder in which affected patients develop both benign and malig nant tumors at an increased frequency.(1) Neurofibromatosis type 1 aff ects approximately 1 in 3000 individuals worldwide, without regard to sex, race, or ethnic background. The hallmark of the clinical disorder is the development of pigmentary lesions (cafe au lait spots, skinfol d freckling, and Lisch nodules), distinctive skeletal lesions (sphenoi d wing dysplasia and pseudoarthrosis), and tumors, such as optic pathw ay gliomas and neurofibromas. In addition to these clinical features, 40% to 60% of children with NF1 manifest specific learning disabilitie s, including attention deficit hyperactivity disorder and deficits in visuospatial processing.