Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

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Abstract
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by multiple café au lait spots, intertriginous freckling, and neurofibromas.1-3 Cerebral and spinal tumors, skeletal dysplasias, and ophthalmological abnormalities are also frequent in affected patients.2 About half of children with NF1 have learning disabilities.4 The median age at death among NF1 patients is about 15 years younger than that of the general population.5 Early diagnosis of NF1 is important for optimal management, especially for treatment of neuropsychological problems in affected children.

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