Pediatric Neurofibromatosis

Neurofibromatosis (NF1) is a life-long condition usually diagnosed early in life, often within the first year. NF1 is diagnosed based on specific skin, ocular, and other physical findings, and genetic blood testing in selected cases. Half of all children who have NF inherited the disease from an affected parent, while the other half has no family history, meaning that the disease occurs spontaneously.

NF1 occurs once in approximately 3,500 births and is characterized by:

• Multiple café au lait (light brown) spots
• Neurofibromas (benign tumors growing on the sheath of a nerve) on or under the skin
• Enlargement and deformation of bones and curvature of the spine (scoliosis)
• Tumors that may develop in the brain, on cranial nerves, or in the spinal cord
• Learning disabilities, in about half of people with NF1

Although NF1 is a congenital (present at birth) condition, the full extent of the disease is usually revealed only as a child grows and develops. More than 95% of children with NF1 develop multiple café au lait spots. Young children with multiple cafe-au lait spots and no other NF1 features, whose parents do not show signs of NF1, are still at risk of having NF1. For many children, other aspects of NF1 can increase with age.

There are many complications associated with the condition, some of which are treatable and others for which there are new biologic-based therapies offering hope. Care for this complex disorder requires a multidisciplinary team of specialists.

In general, a child or teen with NF1 should have a complete medical evaluation at least once a year. Since there is a higher than average risk for learning disabilities, children with NF1 should undergo a detailed neurological exam before they enter school.

Regular eye examinations are also an important part of managing NF1. Lish nodules, which are small bumps on the iris of the eye, can help establish a diagnosis of NF1. Some families and physicians may choose to use a genetic test to confirm an uncertain diagnosis of NFl. Available genetic testing can confirm the presence of a mutation in the NF1 gene with an accuracy of 95%.

Prenatal testing for the NF1 mutation is possible using amniocentesis or chorionic villus sampling procedures. Genetic counseling, available through the institute, can help couples affected by NF to work through the decision-making processes as they plan to have a baby.

While there currently is no cure for NF1, effective medical care includes preventing or minimizing deformities and maximizing the child's capabilities. There also are new agents being tested that may control or reverse some of the complications of NF1, and the Institute is a leader in developing and testing such therapy, through its clinical trials.

We recognize dealing with a chronic illness is difficult for children and families, so we promote opportunities that allow our patients to enjoy the normal diversions of childhood. Each summer, Children's National Hospital's care team staffs Camp New Friends, the largest neurofibromatosis camp for  children (ages 7 to 16) on the East Coast.

NF1 is a highly unpredictable and progressive disease, which may worsen over time. Some people may go through life with only a few café au lait spots and bumps on the skin and be unaware they have the condition, while others may develop complications requiring medical intervention.

NF2 is much rarer than NF1, occurring in 1 in 25,000 births. Tumors affecting both of the auditory nerves (nerves that carry signals from the ear to the brain) are the hallmark of NF2, so the first symptom is often hearing loss beginning in the teens or early 20s. NF2 is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. NF2 is also known as Bilateral Acoustic NF (BAN).

Because NF2 is so rare, few studies have been done about the natural progression of the disorder. The course of NF2 varies greatly among individuals, although inherited NF2 appears to run a similar course among affected family members.

Signs of NF2 may be present in childhood, but are so subtle that they can be overlooked, especially in children who do not have a family history of the disorder. Typically, symptoms of NF2 are noticed between 18 and 22 years of age.

The most frequent first symptom is hearing loss or ringing in the ears (tinnitus). Less often, the first visit to a doctor will be because of disturbances in balance, vision impairment (such as vision loss from cataracts), weakness in an arm or leg, seizures or skin tumors.

There is no medical cure for NF2 and the treatment is mainly focused on diagnosing and treating the acoustic neuromas early and preventing hearing loss or facial paralysis. Improved diagnostic technologies, such as MRI (magnetic resonance imaging), can reveal tumors as small as a few millimeters in diameter, which allows for early treatment.

Some families and doctors may choose to use a genetic test to confirm an uncertain diagnosis of NF2. However, new (spontaneous) mutations cannot be confirmed genetically. Genetic testing for the NF2 mutation is available but is accurate in only 65% of those tested. Genetic counselors can provide information about these procedures and help families cope with the results.

Genetic counseling can help couples affected by NF to work through the decision-making processes as they plan to have a baby.