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Neurofibromatosis

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  • Neurofibromatosis

    There are three major clinically and genetically distinct forms of neurofibromatosis: neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis. NF1, also known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are the multiple café-au-lait macules and neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body. NF has been classified into three distinct types; NF1, NF2 and schwannomatosis. They are caused by different genes, located on different chromosomes.

  • Neurofibromatosis

    Headache and seizures are treated with medications. Since children with NF1 have a higher than average risk for learning disabilities, they should undergo a detailed neurological exam before they enter school. Once these children are in school, teachers or parents who suspect there is evidence of one or more learning disabilities should request an evaluation that includes an IQ test and the standard range of tests to evaluate verbal and spatial skills. NF2 is best managed at a specialty clinic with an initial screening and annual follow-up evaluations (more frequent if the disease is severe).

 

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