Neurofibromatosis

Advanced Techniques to Diagnose and Treat Neurofibromatosis

Loyola Medicine provides clinically integrated care for pediatric and adult patients with neurofibromatosis. Our highly experienced specialists work as part of a clinically integrated care team, including geneticists, otolaryngologists, head and neck surgeons, neurological surgeons, neurologists, ophthalmologists and other specialists to provide state-of-the-art management for neurofibromatosis.

Neurofibromatosis is a genetic disorder that affects cell growth in the nervous system, causing tumors to grow in the supporting cells and the myelin sheath. It may be inherited or develop from a spontaneous mutation during conception. These tumors may grow anywhere in the nervous system, including the brain, ears, eyes, skin, nerves and spinal cord. While the tumors from neurofibromatosis are usually benign, they can cause problems due to the pressure they exert on nearby structures.

Why Choose Loyola for Neurofibromatosis?

Loyola provides truly integrated clinical care for neurologic conditions and disorders, bringing together specialists in neurosurgery, neurology, head and neck surgery, otolaryngology, psychiatry, psychology and others to provide children and adults with advanced care in a compassionate environment. As part of an academic medical center, Loyola’s expert clinicians perform and teach the latest surgical techniques and medical treatments in numerous locations across the Chicago area.

All of our neurologists and neurosurgeons are fellowship-trained and provide training and education to doctors at other hospitals. In addition, our nurses have earned Magnet status, which means they have been recognized for delivering the highest level of care.

All of Loyola’s neurosurgeons are faculty members at the Loyola University Chicago Stritch School of Medicine and well-known thought leaders in education and research. Patients at Loyola also have access to the latest drug therapies and surgical techniques through our clinical trials.

What is Neurofibromatosis?

There are three types of neurofibromatosis, which are classified as type 1, type 2 and schwannomatosis. In total, this disease is estimated to affect 2 million people worldwide, making it more common than cystic fibrosis, Duchenne muscular dystrophy and Huntington’s disease combined. Loyola’s specialists have expertise in caring for patients with all three forms of neurofibromatosis:

  • Type 1 (NF1) — NF1, also known as von Recklinghausen neurofibromatosis, usually appears in childhood. This progressive disorder develops due to a lack of the protein neurofibromin, which helps to regulate cell growth. NF1 is linked to a higher risk for epilepsy, stroke and hydrocephalus (abnormal buildup of fluid in the brain). NF1 affects about one in every 3,000 to 4,000 people in the United States. About three to five percent of tumors become cancerous and need aggressive treatment. Patients with this form of neurofibromatosis may exhibit congenital heart defects, larger head size, poor language skills, shorter height and bone abnormalities.

  • Type 2 (NF2) — This form of neurofibromatosis is less common than NF1. The symptoms of NF2 are usually due to the development of benign tumors called vestibular schwannomas (acoustic neuromas) in both ears. These tumors form along the nerve that communicates sound and balance from the inner ear to the brain. Because it takes time for these tumors to grow and affect surrounding structures, the symptoms usually don’t appear until the teen or early adulthood years. This disease develops due to a lack of the protein merlin, which controls cell growth.

    This disorder is estimated to affect one in 25,000 people. Patients with this form of neurofibromatosis may exhibit balance problems, gradual hearing loss, seizures, tinnitus (ringing in the ears) and patches of rough, dark, hairy skin. HF2 can also affect the cranial, optic, peripheral and spinal nerves, resulting in arm or leg numbness or weakness, hydrocephalus (abnormal buildup of fluid in the brain), loss of muscle control in the face, pain and vision problems including retinal issues and juvenile cataracts.

  • Schwannomatosis — This is a rare form of neurofibromatosis that appears in a person’s 20s and 30s and is caused by tumors that develop on the cranial, peripheral and spinal nerves. Some patients with schwannomatosis only experience symptoms in one part of the body. This form of the disease is called segmental or mosaic schwannomatosis. In all, this disease is estimated to affect one in 40,000 people. Patients with this form of neurofibromatosis may exhibit chronic pain, difficulty with urination or bowel function, headaches, numbness, tingling, tumors beneath the surface of the skin, weakness in fingers or toes, and vision changes.

How is Neurofibromatosis Diagnosed?

Loyola’s clinically integrated care team is highly skilled in diagnosing all three forms of neurofibromatosis. First, your doctor will ask you or your child about your medical and family history. Based on the symptoms you or your child may be experiencing, your doctor may request testing, which may include:

  • Audiometry — This painless, non-invasive hearing test is used to measure the ability to hear sounds, pitches and frequencies. This test can determine if hearing loss has occurred or to measure hearing before and after surgery.

  • Auditory brainstem response (ABR) — This test measures the electrical activity in the brain when the patient is stimulated by sound and provides information about the inner ear and brain pathways for hearing.

  • CT scan (computed tomography) — A CT scan combines a series of cross-sectional X-rays, which allows your doctor to visualize your bones, blood vessels and soft tissues in order to diagnose disease or injury and create an effective treatment plan. Learn more about CT scans.

  • Electronystagmography — This test provides information about eye movements and nerve function in the brain; this may be used to understand the causes for vertigo, balance disorders and dizziness.

  • Eye exam — Loyola’s ophthalmologists can detect tiny bumps on the iris (called Lisch nodules) which are associated with this condition.

  • Genetic testing — Genetic testing can provide helpful information in the diagnosis of neurofibromatosis and may be done prenatally. Loyola provides genetic counseling for patients and parents of children with genetic disorders. Learn more about genetic testing.

  • MRI (magnetic resonance imaging) — An MRI scanner uses a magnetic field and radio waves to create detailed images of organs and tissues. In patients suspected of having neurofibromatosis, MRI is particularly useful in identifying optic pathway gliomas. Unlike CT, MRI imaging uses no radiation. Learn more about MRI.

  • X-ray — Your doctor may use X-ray imaging to identify bone abnormalities or tumors in the brain or spinal cord. Learn more about X-ray.

How is Neurofibromatosis Treated?

Loyola’s dedication to research and mastery of the latest state-of-the-art procedures puts our neurofibromatosis team at the leading edge of care. Treatment of neurofibromatosis aims to promote a normal, productive life and manage complications as they develop. Some symptoms that are caused by the pressure of tumors growing into other structures can be alleviated by surgery or stereotactic radiosurgery. Your doctor also may prescribe the latest in drug therapy to manage pain.

  • NF1 — For patients with this form of neurofibromatosis, your doctor likely will recommend medical monitoring. During routine visits, your doctor will assess any existing neurofibromas, as well as any new neurofibromas in the skin. Your doctor will also recommend routine eye checkups to look for vision problems and will be interested in how children with NF1 are performing in school. Our staff also will take bone measurements to detect any abnormalities. If an optic glioma or other tumor develops and is causing severe symptoms, your doctor may recommend surgery or chemotherapy.

  • NF2 — For patients with vestibular schwannomas, your doctor may recommend surgery or stereotactic radiosurgery to remove them and ease the symptoms of hearing loss, tumor growth and brainstem compression. Surgery can affect the acoustic or facial nerves. Your doctor also may recommend auditory brainstem implants or cochlear implants to improve your hearing if you are experiencing hearing loss.

  • Schwannomatosis — Treatment for this form of neurofibromatosis may involve medical monitoring, routine imaging tests and drug therapy to manage your pain. If your doctor determines that more aggressive treatment is necessary, then microsurgery, image-guided surgery and radiosurgery may be the best course of therapy.

  • Cancer — During routine checkups for neurofibromatosis patients, your Loyola doctor aims to catch any malignant tumors early to reduce the risk of cancer. If you develop cancer from neurofibromatosis, your doctor will coordinate your care with our highly experienced oncologists, who may recommend surgery, chemotherapy or radiation therapy.

Specialized Services to Diagnose and Treat Neurofibromatosis

Loyola’s neurofibromatosis program offers expert diagnosis and management in outstanding, conveniently located facilities. We have multidisciplinary facilities at the Loyola University Medical Center campus, in addition to outpatient services at other locations.

We provide the following specialized services to provide you with the most comprehensive care:

  • Audiology surgery — Loyola’s audiologists and otolaryngologists are well-known for their success in treating difficult cases of hearing loss.

  • Balance Disorders Center — Our center provides a multidisciplinary approach to caring for patients with dizziness, unsteadiness, vertigo, buzzing in the ears and hearing loss. Otolaryngologists, otologists, neurologists, neurotologists and physical therapists offer specific expertise in balance disorders, which can be difficult to diagnose.

  • Brain mapping surgery — This technique aids surgeons in pinpointing critical areas of the brain before or during neurosurgery. Loyola’s surgeons use this “awake brain surgery” to spare patients from experiencing function loss and damage to critical areas during surgical resections of brain tumors. Once these key areas are mapped, your surgeon knows which areas should be spared during tumor removal.

  • Cardinal Bernardin Cancer Center — Our integrated care teams deliver the highest quality in cancer care. Our specialists will work closely with your neurologist to achieve the best outcome.

  • Center for Cranial Base Surgery — This center, which was the first of its kind in the Midwest, was established in 1988 and performs skull base surgery for patients with tumors and vascular lesions located on the underside of the brain. The center has developed innovative methods for the safe and complete removal of difficult-to-reach cranial base tumors and lesions that might otherwise be considered inoperable. Our team also treats all noncancerous cranial base conditions, such as aneurysms, brain abscesses and neuralgias.

  • Endoscopic cranial base surgery — Loyola’s neurosurgeons, otolaryngologists and cranial base tumor specialists have expertise in the use of endoscopic cranial base surgery or endonasal endoscopy, to access and remove tumors through the nasal passage. This leading-edge technology allows your surgeon access to the tumor without harming other important nearby structures, such as the brain, optic nerve or carotid arteries. This approach allows your surgeon a better view of the tumor, making it easier to remove all of it and reducing the chances of a recurrence. Use of this minimally invasive technique also reduces scarring, pain and the length of your hospital stay, which will allow you to return to your everyday activities sooner.

  • Epilepsy Center — Loyola is proud to offer a comprehensive, multidisciplinary approach to the diagnosis and treatment of epilepsy and seizure disorders. Designated as a level 4 epilepsy center by the National Association of Epilepsy Centers (NAEC), Loyola offers the highest level of specialized epilepsy care available for adults and children as young as two years of age.

  • Facial nerve paralysis and disorders — Loyola’s surgeons are experienced in the treatment of facial nerve paralysis and facial nerve disorders. The loss of facial movement due to nerve damage can have a significant effect on your speech, eating and drinking, as well as cause pain, tearing or twitching. The most common causes of facial nerve paralysis are head trauma, infection or inflammation of the facial nerve, head or neck tumor, stroke, Bell’s palsy, facial fractures and ear and salivary gland tumors. Our specialists are experienced in nerve repair surgery to restore facial movement.

  • Head and neck oncology clinic — Our clinic provides consultation, evaluation and treatment of head and neck tumors. Your care team may include surgical, medical and radiation oncologists, plastic and reconstructive surgeons, maxillofacial surgeons, dentists, speech therapists, clinical social workers, nutritionists and oral pathologists.

  • Hearing Center — Loyola’s audiologists, otologists and otolaryngologists specialize in the diagnosis, treatment and management of hearing loss, balance disorders and a full range of auditory conditions.

  • Pediatric otolaryngology — Loyola’s pediatric ear, nose and throat (ENT) specialists treat children with problems such as inner-ear infections, hearing loss, nasal obstructions and head and neck tumors. Loyola is one of only two major sinus treatment centers for children in the Midwest.

  • Reconstructive surgery program — Loyola understands the frustration that a congenital deformity can cause and the painful emotional toll that a car accident or head cancer can leave behind. Our specialists will help to make you feel whole again with reconstructive surgical treatment.

  • Speech and language therapy — Loyola’s experienced, certified and licensed speech and language pathologists are committed to helping you with speech impairment prevention, rehabilitation and education.

  • Stereotactic radiation oncology program — This approach is effective in treating small tumors of the head and brain when conventional surgery or standard radiation therapy may pose too great a risk to the patient. The procedure delivers a single dose of radiation that is precisely matched to the 3D shape of the tumor while protecting nearby structures. Loyola is one of the few centers in the country to acquire a new shaped-beam stereotactic radiotherapy system, which targets tumors and other lesions with submillimeter accuracy.

Ongoing Research to Advance Neurofibromatosis Treatment

As an academic medical center, Loyola Medicine is dedicated to improving future treatments by conducting research on new medications and protocols. Loyola is partnering with a Brazilian research center to study the relationship between neurofibromatosis and vascular abnormalities. Loyola’s patients benefit from research discoveries made here; read about Loyola’s current clinical trials.

Neurofibromatosis Midwest is dedicated to the increasing number of men, women and children challenged by neurofibromatosis. The organization is determined to educating and comforting patients and improving clinical care and research funding for treatments and a cure. Neurofibromatosis Midwest is staffed by people with a personal interest in the disease. Learn more at nfmidwest.org.