Neurofibromatosis 365

common genetic disorder, occurring in about one in 4,000 babies born in the United States. When diagnosing NF1 (also called von Recklinghausen disease), doctors will take a thorough medical history because children with NF1 often have a parent with the disease.

Neurofibromatosis type 2 is less common, occurring in about one in 140,000 births. Also known as bilateral acoustic NF, it is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark.

Symptoms

The symptoms of NF1 and NF2 are quite different from each other, and are described below.

NF1 The classic sign of NF1 is a skin pigment problem (cafe-au-lait spots) of light brown, coffee-colored patches that may look like freckles at first but often increase in size and number during the first few years of life. A child diagnosed with NF1 will usually have at least six cafe-au-lait spots that are larger than freckles.

Another common symptom of NF1 is Lisch nodules (tiny, benign tumors on the iris of the eye that do not cause problems but that can help confirm the diagnosis). Tumors along the optic nerves can rarely occur, and they will affect vision. Benign tumors called neurofibromas are found on or under the skin or along the nerves of the body and usually appear at puberty. Bone deformities may also occur, as can curvature of the spine (scoliosis).

Between 30 percent and 40 percent of children with NF1 also have a high incidence of seizures, learning disabilities, attention deficit disorder, and speech problems.

NF2 NF2 causes tumors on the hearing nerve leading to hearing loss, ringing of the ears, and problems with balance that usually becomes apparent in the teen years or early 20s.

Although tumors on the eighth cranial nerve are most common, children with NF2 can develop tumors on other nerves, called "schwannomas" because they begin in Schwann cells. Schwann cells support, protect, and insulate nerve cells. The symptoms of a schwannoma will depend on its location; those that begin on cranial nerves (such as eighth cranial nerve tumors) affect the head and neck unless they grow large enough to push on the brain stem and affect the body also. Those that grow on the nerves as they exit the spinal cord may cause numbness of a part of the body; some tumors may grow large enough to press on the spinal cord and cause weakness and numbness in the legs. Those that grow in the bundles of nerves gathered in the armpits and groin area may cause weakness in one arm or leg. Schwannomas may even grow in tiny nerves in the skin; they rarely cause neurological symptoms, but they may rub on clothing or be cosmetically disfiguring.

Other symptoms of NF2 may include facial weakness, headache, vision changes, and a lump or swelling under the skin caused by the development of a neurofibroma. In a family member at risk for NF2, a positive diagnosis can be made if mild signs of NF are found elsewhere, such as one or two cafe-au-lait spots or a small lump under the scalp or skin.

Diagnosis

A genetic test is available for NF2. Otherwise, a doctor can diagnose the condition from available symptoms.

Treatment

Treatment of a child with NF1 involves managing symptoms. Children with complications of the eye, nervous system, spine, or bones will be referred to an appropriate specialist for treatment. Surgical removal of neurofibromas is required if they are causing chronic pain, become infected, are pressing or growing into vital body organs, or for cosmetic reasons.

Children with NF1 are usually checked for height, weight, head circumference, blood pressure, vision and hearing, evidence of normal sexual development, signs of learning disability and hyperactivity, and evidence of scoliosis, in addition to examination of the skin for cafe-au-lait spots and neurofibromas. The causes of any unusual growth pattern are generally investigated, and early or late onset of puberty also suggests further study. Further diagnostic evaluations, including blood tests and x rays, are usually needed only to investigate suspected problems.

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