[Developmental manifestation in children with neurofibromatosis type 1].
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that primarily involves the skin and the nervous system. It affects about 1 in 4000 individuals. NF1 is caused by a mutation in the nfl gene located on chromosome 17q11.2. Neurofibromin, the protein products of the normal nf1 gene, acts as a tumor suppressor and limits cell growth. Mutation in this gene leads to cell overgrowth and an increased risk of developing benign and malignant tumor. The diagnosis of NF1 is made in an individual with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic glioma, distinctive bone lesions and first degree family relative with NF1. Learning and developmental disorders are the most common neurologic complication of neurofibromatosis type 1 and can be responsible for significant lifetime morbidity. This report provides a review on cognitive and developmental manifestation of children with NF1 and the importance of early diagnosis and treatment.
Cohen
Rony
R
Department of Pediatric Neurology, Schneider Children's Medical Center, Petach Tikva, Israel. cohenzr@bezeqint.net
Shuper
Avinoam
A
D002455:Cell Division; D002648:Child; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002658:Developmental Disabilities / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D015994:Incidence; D007859:Learning Disabilities / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000453:epidemiology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology