ComplicationsĬomplications of neurofibromatosis vary, even within the same family. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about 15%. The inheritance pattern for schwannomatosis is less clear. NF1 and NF2 are both autosomal dominant disorders, meaning that any child of a parent who is affected by the disorder has a 50% chance of inheriting the genetic mutation. People who have NF1 and NF2 and whose relatives aren't affected are likely to have a new gene mutation. About half of people who have NF1 and NF2 inherited the disease from an affected parent. The biggest risk factor for neurofibromatosis is a family history of the disorder. The person has a 50% chance of having an unaffected child. A person with an autosomal dominant disorder - in this example, the father - has a 50% chance of having an affected child with one changed gene. You need only one changed gene to be affected by this type of disorder. It's located on one of the nonsex chromosomes, called autosomes. In an autosomal dominant disorder, the changed gene is a dominant gene. The tumors associated with neurofibromatosis are often benign and slow growing. See your doctor if you or your child develop signs or symptoms of neurofibromatosis. Numbness or weakness in various parts of the body.Chronic pain, which can occur anywhere in the body and can be disabling.Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves - but rarely on the nerve that carries sound and balance information from the inner ear to the brain. Symptoms usually appear between ages 25 and 30. This rare type of neurofibromatosis usually affects people after age 20. Numbness and weakness in the arms or legs.Signs and symptoms of these tumors can include: People who have NF2 may also develop other benign tumors. Sometimes NF2 can lead to the growth of schwannomas in other nerves, including the cranial, spinal, visual (optic) and peripheral nerves. Signs and symptoms generally appear during the late teen and early adult years, and can vary in severity. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Neurofibromatosis 2 (NF2) is much less common than NF1. Children who have NF1 often are below average in height. Children with NF1 tend to have a larger than average head size due to increased brain volume. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common. Often there is a specific learning disability, such as a problem with reading or mathematics. Impaired thinking skills are common in children who have NF1 but are usually mild. These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults. Tumor on the optic nerve (optic glioma).Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg. Neurofibromas may increase in number with age. Plexiform neurofibromas, when located on the face, can cause disfigurement. Sometimes, a growth will involve many nerves (plexiform neurofibroma). These benign tumors usually develop in or under the skin, but can also grow inside the body. Soft, pea-sized bumps on or under the skin (neurofibromas).These harmless nodules can't easily be seen and don't affect vision. Tiny bumps on the iris of the eye (Lisch nodules).Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds. Freckling usually appears by ages 3 to 5. Freckling in the armpits or groin area.After childhood, new spots stop appearing. They are usually present at birth or appear during the first years of life. Having more than six cafe au lait spots suggests NF1. These harmless spots are common in many people. Flat, light brown spots on the skin (cafe au lait spots).Signs and symptoms are often mild to moderate, but can vary in severity. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. There are three types of neurofibromatosis, each with different signs and symptoms.
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