In his latest installment to the Total Spine series of instructional videos, Dr. Paul McCormick describes retropleural thoracotomy, a surgical technique used to treat complex spinal conditions of the thoracic and lumbar spine. “Retropleural thoracotomy is an important...
Neurofibromatosis is a condition in which nerve tumors grow throughout the body. At The Spine Hospital at The Neurological Institute of New York, we specialize in treating nerve tumors in the spine.
Three types of neurofibromatosis have been identified. Two of them, Neurofibromatosis I (NF1) and Neurofibromatosis II (NF2), are the subject of this page. Read about the third type, Schwannomatosis, on our Schwannomatosis page here.
Symptoms of NF1 include light tan spots on the skin, freckles under the arms or in the groin, changes in the bones or in the irises of the eyes, and the formation of nerve tumors called neurofibromas. Neurofibromas are usually benign (noncancerous) tumors. Only about 5% of NF1 patients develop spinal tumors that cause them symptoms. Many more have spinal tumors that do not cause symptoms.
Symptoms of NF2 include tinnitus (ringing or buzzing in the ears), hearing loss, balance problems, and tumors (meningiomas, ependymomas, and schwannomas), which are usually benign. People with NF2 are much more likely than those with NF1 to develop symptomatic spinal tumors.
Most tumors associated with neurofibromatosis are benign. But even benign tumors can cause problems when they compress the spinal nerve roots or spinal cord. Symptoms of nerve root and cord compression include pain, changes in sensation (numbness, tingling), changes in movement (clumsiness, weakness), or difficulty controlling bowel or bladder. Patients with neurofibromatosis should consult a professional promptly if they experience any of these symptoms.
|Causes and Risk Factors|
Each type of neurofibromatosis is caused by a mutation in a specific gene. These mutations can be inherited from a parent or can arise spontaneously at conception.
NF1 and NF2 are inherited in an autosomal dominant pattern, which means that an affected parent has a 50% chance of passing the gene on to each of his or offspring. Schwannomatosis has a more complicated pattern of inheritance; the chance of an affected parent passing it on to each offspring is about 15%.
|Tests and Diagnosis|
Neurofibromas, schwannomas, and meningiomas can be identified on MR (magnetic resonance) and CT (computed tomography) scans. MR scans use magnets, radio waves, and computer technology to produce images of organs and tissues like the brain and spinal cord. CT scans use a combination of X-rays and computer technology to produce detailed images of bones and soft tissues.
The treatment of the tumors caused by neurofibromatosis depends on the size, location, and symptoms of the tumors. Small tumors in patients with no symptoms can often be observed over time with yearly MR.
For larger or symptomatic tumors, or tumors showing growth over time, surgical removal is usually recommended. In most patients, complete removal of these tumors can be safely achieved using a surgical microscope, very fine instruments, and an array of microsurgical techniques. In many cases, patients experience an improvement in neurological function (see video).
In some patients with large dumbbell tumors, spinal stabilization and fusion may be performed following complete tumor removal (see video).
|Preparing for Your Appointment|
Drs. Paul C. McCormick, Michael G. Kaiser, Peter D. Angevine, Alfred T. Ogden, Christopher E. Mandigo, Patrick C. Reid, Richard C.E. Anderson (Pediatric), and Neil A. Feldstein (Pediatric) are experts in treating tumors associated with neurofibromatosis. They can also offer you a second opinion.
Helpful Surgery Overviews
Dr. McCormick will choose the treatment method specific to each patient and situation. Some of the condition’s treatment options may be listed below.
Dr McCormick video on microsurgical resection of a synovial cyst causing severe lumbar spinal stenosis published in Operative Neurosurgery
Synovial Cysts are a benign and fairly common condition in adult patients. They can arise in most joints throughout the body. In most cases they are asymptomatic but in the spine they can enlarge to produce severe spinal stenosis and pressure on the spinal nerves...
Dr. McCormick invited speaker at 37th Annual Meeting of the Joint Section on Disorders of the Spine and Peripheral Nerves
Dr. McCormick was a featured speaker at the recent 37th Annual Joint Spine Section Annual Spine Summit meeting held in San Diego. He presented at the Innovative Technology Special Session: Operative Video Segments. His presentation was entitled “Intramedullary Tumor,...