Neurofibromatosis Type 2 in Children

  • "The fear of the unknown is a big concern in those with neurofibromatosis type 2. Although nothing can be predicted with absolute certainty, most individuals with NF2 can lead relatively normal and productive lives."

    Nicole Ullrich, MD, PhD, Associate Director, Children?s Hospital Boston Neurofibromatosis Program

    Neurofibromatosis type 2 (NF2) is a genetic disorder that causes slow-growing tumors to develop on the eighth cranial nerve, which is located in the inner ear. Although the tumors associated with NF2 are usually benign (non-cancerous), they may cause problems with hearing and balance if they grow too large and press against other structures in the brain stem.

    Here’s some basic information about NF2:

    • NF2 occurs in about one in every 35,000 births and affects both sexes equally. 
    • In 50 percent of cases, NF2 is inherited from a parent. The other half of the time, NF2 occurs as a result of a spontaneous mutation. 
    • The classic symptom of NF2 is hearing loss that begins in the teens or early twenties.
    • The symptoms of NF2 and their degree of severity will vary depending on the type of gene mutation a given child has.
    • A diagnosis of NF2 is made based on hearing and vision evaluations. In some cases, genetic testing is used to confirm a diagnosis.
    • There is no known cure for NF2, but much can be done in terms of managing symptoms. The majority of children with NF2 will lead relatively normal and productive lives.

    How Children’s Hospital Boston approaches neurofibromatosis type 2:

    The Neurofibromatosis Program at Children’s Hospital Boston is one of the oldest and largest neurofibromatosis clinical programs in the United States. Our multidisciplinary clinic brings together specialists from a variety of departments throughout the hospital to provide expert diagnosis, evaluation and treatment, along with counseling, support and education services.

     

    Neurofibromatosis type 2: Reviewed by Nicole Ullrich, MD, PhD
    Children’s Hospital Boston; posted in 2012

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