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Neurofibromatosis Institute

 Read a parent's letter
The Gilbert Family Neurofibromatosis Institute, one of the largest neurofibromatosis programs in the world, leads the medical field in diagnosis, evaluation, and treatment of children and adults with all the conditions that relate to this disorder.

Under the direction of Roger Packer, MD   — one of the world's foremost experts in neurofibromatosis— the Institute is home to a multidisciplinary team composed of geneticists, neurologists, neuropsychologists, neurosurgeons, neuroradiologists, ophthalmologists, neuro-opthamologists, orthopedists, and researchers, who offer integrated care and effective therapies.

The Gilbert Family NF Institute has been recognized as a Neurofibromatosis Center of Excellence by the Childhood Tumor Foundation, and is one of eight programs in the United States participating in the neurofibromatosis Clinical Trials Consortium, which Dr. Packer chairs. This consortium brings together experts from around the country to coordinate on national clinical trials.

As leaders in research and treatment, we offer our patients the most advanced care available on a full range of conditions:
• Neurofibromatosis Type 1 (NF1)
• Neurofibromatosis Type 2 (NF2)
• Optic nerve and visual pathway gliomas
• Plexiform neurofibromas
• Learning disabilities and neurocognitive aspects of the condition
• Malignant peripheral nerve sheath tumors
• Orthopaedic complications of NF1
• Meningiomas

Specialized Care    

The Gilbert Family NF Institute actively follows more than 1,500 children and adults with all the conditions linked to NF. The institute coordinates weekly, multi-specialty clinics with one central location for patients and families to meet with specialists in genetics, neurology, and ophthalmology. From that clinic patients and families are referred as needed to specialists in oncology, neurosurgery, neuropsychology, and otolaryngology. We also offer genetic and recurrence risk counseling for NF patients and families.

The Institute also offers the largest NF summer camp on the East Coast for children between the ages of 7 and 16. This summer camp – Camp New Friends - provides a fun and supportive environment for children and teens. For many, this is one of the few times a year when they socialize with patients and camp counselors like themselves and have the experience of just being kids.

Children's Experts
The Institute brings together pediatric professionals from a number of specialties, including:
Hearing and Speech

Diagnosing 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 cafe-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 percent 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 NFl. For many children, other aspects of NF1 can increase with age.

Caring for Neurofibromatosis Patients
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 percent.

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 care team staffs Camp New Friends, the largest neurofibromatosis camp for  children (ages 7 to 16) on the East Coast.

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

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Optic Nerve Gliomas and Other Gliomas of the Visual Pathway

Tumors of the optic nerve and visual pathway are the most common types of brain tumors in children with neurofibromatosis. Affecting nearly 20 percent of all children with neurofibromatosis, tumors can be incidental findings found on neuroimaging studies performed on asymptomatic children or progressive lesions that cause visual loss and other types of neurologic complications.

About half of all optic nerve and visual pathway tumors occur in children with neurofibromatosis. In general, the rate of progression is somewhat slower, and the degree of visual and neurologic disability caused by visual pathway gliomas is less in children with neurofibromatosis type 1. In some cases, however, the tumor can grow rapidly and cause unilateral or bilateral blindness.

Diagnosing Optic Nerve Gliomas
Isolated optic nerve gliomas (tumors arising only in one eye) usually present with proptosis (sticking out) of the eye, with overlying swelling, retraction, or drooping of the eyelid. The eye may wander and have uttery movemebts (nystagmus) ,and, upon testing, decreased vision may be found. Children with NF1 may also have optic nerve gliomas in both eyes.

In the majority of cases, optic nerve gliomas in children with neurofibromatosis are not isolated and involve structures deeper in brain, including the chiasm (where nerves cross to send signals to the brain) and the visual pathways.

Visual pathway gliomas in children are also diagnosed from screening studies, as the tumor may not be symptomatic. In these cases, it may be difficult to determine how long the tumor has been present and whether the child requires treatment.

All newly diagnosed patients with neurofibromatosis type 1 require a careful eye examination. Some in the medical community consider it controversial whether or not all patients require an initial MRI if asymptomatic. Children's National protocol dictates that doctors obtain MRIs in young children when visual testing is difficult. The finding of optic nerve pallor or other visual problems an MRI scan.

An MRI scan is extremely sensitive in the diagnosis of an optic nerve or visual pathway glioma. In some cases, a CT scan may be done instead but, if possible, a CT scan should be avoided due to concerns over the long-term detrimental effects of radiation.

Treating Optic Nerve Gliomas

In children with neurofibromatosis type 1 with an isolated optic nerve tumor, treatment choices at the time of diagnosis include: observation alone, surgery, or chemotherapy. Radiotherapy is infrequently used due to concerns over long-term medical complications of such treatment, including the development of secondary tumors.

In children with minimally affected vision, especially in those in which it is unclear if the tumor has been present for a long time, usually the first treatment chosen is observation. Patients need to be followed closely by ophthalmologic, neurologic, and neuroimaging (MRI) studies, usually every 3 months for the first year after diagnosis and at least every 6 months to 1 year thereafter for approximately 3-5 years.

In the cases where vision is completely lost in the eye and there is considerable proptosis (eye-bulging), surgery can be performed in isolated optic nerve gliomas to remove the tumor but spare the globe of the eye.

In situations where the vision is retained but the tumor is progressing, or where there is extensive intracranial disease, chemotherapy is often extremely effective. The chemotherapy regimen, which has been found to be most successful in children with neurofibromatosis type 1 and visual pathway gliomas, is the combination of carboplatin and vincristine (chemotherapy drugs). This approach was first piloted by Dr. Packer at the Children's Hospital of Philadelphia and later at Children's National Medical Center, This approach is now considered standard of care around the world.

To help cases in which the initial chemotherapy fails, Children's National Medical Center is evaluating a series of new agents, including biologic agents, which have been chosen to specifically target the tumor while causing fewer medical complications. These are being tested as part of institutional and national clinical trials. Patient eligibility can be determined by contacting the Gilbert Family Neurofibromatosis Institute.

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Brain Tumors other than those of the Visual Pathway

Other than optic nerve and visual pathway gliomas, children with neurofibromatosis are at increased likelihood of developing a variety of different brain tumors. The most common are gliomas in different portions of the brain, including the brain stem, and the cerebral cortex (the area of the brain in charge of language and information processing). Less likely is the development of malignant (cancerous) tumors such as high-grade gliomas, medulloblastomas and ependymomas.

Diagnosis of these lesions is usually made on the basis of an MRI scan done because of central brain problems such as weakness, unsteadiness and seizures. Dependent on the situation, a biopsy may be required to confirm the presence of the tumor, although the majority of low-grade tumors in children with neurofibromatosis are low-grade gliomas (grade 1, pilocytic tumors).

Treating Brain Tumors

The type of treatment for other types of intracranial (inside the skill) tumors, primarily low-grade gliomas in children with NF1 can be different for each person. The treatment is dependent on the location of the tumor, how fast it is growing, and what symptoms it is causing. In some cases, observation alone is the appropriate first treatment. In other cases, removing the tumor through surgery may work.

In those cases when surgery cannot be performed safely, chemotherapy is often beneficial for children with NF1 and low-grade gliomas. The chemotherapy is the same type that is used in children with visual pathway gliomas; the combination of the carboplatin and vincristine is often quite effective. Children's National Medical Center is also exploring new biologic-based therapies to treat these conditions for cases in which the tumor does not respond to chemotherapy,

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Plexiform Neurofibromas

Plexiform neurofibromas are a common complication of neurofibromatosis. These predominantly inherited tumors can occur anywhere in the body, including the head and neck, extremities, areas around the spine and deep in the body where they may affect organs. Although these tumors tend to grow slowly, they may grow to an enormous size and can cause serious disfigurement, brain dysfunction, or impingement on other organs. They may also cause pain. These types of congenital lesions occur in up to 60 percent of patients with neurofibromatosis. However, only a minority of these patients is symptomatic and requires treatment.

Diagnosing Plexiform Neurofibromas
Although diagnosis of these lesions is usually possible by examination of the child, the full extent of the lesion is best seen by MRI scan. MRI scans may show these lesions to be much more extensive than previously thought. For those patients with tumors around the spine, the lesions may be extremely extensive.

Treating Plexiform Neurofibromas
Until recently, the only known effective treatment for plexiform neurofibromas has been surgery. Approximately 75 percent of patients who undergo a complete removal of the tumor without causing significant neurologic impairment or dysfunction are cured.

Children's National Medical Center and other sites around the country are developing new therapies for patients whose tumors can only be partly removed. Most of these treatments are biologically based and designed to treat the genetic foundations of the tumor.

Children's National Medical Center is a member of the Department of Defense Neurofibromatosis Clinical Trials Consortium, of which Dr. Packer acts as group chair. Children's National Medical Center completed a trial evaluating a new biologic agent, Pirfenidone, and is currently evaluating the efficacy of another biologic agent, Rapamycin, (through the Department of Defense Consortium), which is designed to inhibit the proliferation of plexiform neurofibromas.

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Learning Disabilities

As many as 80 percent of all children with neurofibromatosis will have associated difficulties that affect learning, including attention problems, memory problems, spatial perception difficulties, and selective problems in reading or mathematics. These learning disabilities may dramatically affect the lives of children with neurofibromatosis; however it is believed that early diagnosis and intervention can lead to better outcomes.

Although researchers do not fully understand why neurofibromatosis type 1 is associated with cognitive disabilities, the same gene defect that has been associated with tumors (a loss of the NF1 gene) seems to underlie these difficulties, as the lack of the NF1 gene results in abnormal growth and maturation of the brain and abnormal brain circuitry.

Diagnosing a Learning Disability
The diagnosis of learning disabilities in children with NF1 is based on a high level of expectation of such difficulties. Patients with NF1 who are seen in the Neurofibromatosis Clinic and the Neurology Clinic are screened for attention difficulties or any evidence of developmental delays. Children displaying such abnormalities should undergo detailed neurocognitive testing, which is available through the Gilbert Family Institute. The institute also works closely with schools to determine which children are at risk or if children are showing early evidence of cognitive or other learning disabilities.

Findings on MRIs can also be helpful, and children with a large number or volume of areas of immature brain (called focal areas of signal abnormality – FAST or unidentified bright objects – UBOs) may be a higher risk for development disabilities.

Treatment for a Learning Disability
The most important treatment for children with learning disabilities is placing them in appropriate school settings with appropriate support, The neurocognitive team at Children's National Medical Center works with various school districts in an attempt to place these learning-disabled children into the best possible learning environments.

In selected cases, medications—including drugs to improve attention—may help these children. Through the institute a preliminary study was performed to see if the drug Lovostatin can improve attention and cognition in children with neurofibromatosis type 1. Based on the preliminary results of this study and work by other investigators across the country, an ongoing study at Children's National is confirming efficacy of that statin Lovostatin in treating children, between the ages of 10 and 17, with neurofibromatosis type 1 and neurocognitive difficulties. The study is being performed in collaboration with the Department of Defense Neurofibromatosis Clinical Trials Consortium, of which Children's is a charter member. Dr. Maria Teresa Acosta, from Children's National, is the co-national principal investigator of the study.

There are other studies underway at Children's National, in collaboration with other institutions such as the Royal Alexandra Hospital for Children at Westmead in Sydney, Australia. These studies attempt to identify early in life those children who are at risk and determining the pattern of development for children with early developmental delays as they enter into the school years. These studies also are using innovative neuroimaging, including functional MRI.

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Malignant Peripheral Nerve Sheath Tumors

Malignant peripheral nerve sheath tumors (tumors that develop in the cells surrounding the nerves on the brain and spinal cord) may occur in up to 5 percent of patients with neurofibromatosis during their lifetime. These tumors are thought to arise predominantly from congenital plexiform neurofibromas and usually do not develop until late in the teenage years or early in adulthood. In an area of a known plexiform neurofibroma (skin tumor), there should be concern of malignant transformation into a malignant peripheral nerve sheath tumor if there is sudden enlargement of the lesion or if there is new onset pain or neurologic or physical compromise.
Diagnosis of Malignant Peripheral Nerve Sheath Tumors

Diagnosing a malignant transformation of a peripheral nerve sheath tumor can be difficult. A tumor may become malignant if an MRI scan shows significant enlargement or new enhancement (dye being taken up) of a portion of the tumor. A PET scan (positron emission tomography) can be useful if a portion of the growth is found to be 'hot' (metabolically active) on the PET scan. Often, at least a biopsy (removing cells or tissue to examine them) (if not an excision completely removing a tissue, organ or tumor from the body) is required to confirm the diagnosis of a malignant peripheral nerve sheath tumor. In cases where diagnosis is unclear, at least a biopsy should be performed to rule out malignant transformation.

Treatment for Malignant Peripheral Nerve Sheath Tumors
The treatment for malignant peripheral nerve sheath tumors continues to evolve. Patients have the best outcomes if tumors can be fully removed. This does not, however, ensure long-term disease control. Other therapies used to try to control malignant peripheral nerve sheath tumors, especially those, which are only partially resected, include multi-agent chemotherapy and radiation therapy (in selected cases). Children's National Medical Center in cooperation with the Children's Oncology Group and the National Cancer Institute, are performing a series of innovative studies in attempts to create better therapies. Children's National will collaborate with the Department of Defense Neurofibromatosis Clinical Trials Consortium.

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Neurofibromatosis Type 2 (NF2)

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).

Diagnosis and Treatment of Type 2

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 percent 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.

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Schwannomatosis is a very rare form of NF that has only recently been recognized and appears to affect about 1 in 40,000 individuals. It is less well understood than NF1 and NF2, and features may vary greatly between patients.

The distinguishing feature of schwannomatosis is the development of multiple schwannomas, tumors of the peripheral nervous system that arise in the nerve sheath and that are composed of Schwann cells.

Diagnosis and Treatment of Schwannomatosis
Schwannomatosis can appear almost everywhere in the body. The dominant symptom is pain, which can be excruciatingly intense. Pain develops when a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Patients with schwannomatosis never have neurofibromas.

About one-third of patients with schwannomatosis have tumors only on a single part of the body, such as an arm, a leg, or a segment of the spine. The number of schwannomas on a patient can vary widely.

There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed pain usually subsides, although it may recur if new tumors form. When surgery is not possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

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