Schwannomatosis
What is it?
Schwannomatosis, also known as neurilemmomatosis, is a rare condition characterized by multiple schwannomas. A schwannoma, also known as neurilemmoma, is a benign, encapsulated neoplasm derived from Schwann cells, glial cells that form the myelin sheath on axons outside the brain. It affects about one in 40,000 people, and it is diagnosed most often in people over age 30.
Symptoms
Patients frequently presents with pain that can be disabling, resulting in a lower quality of life. If a schwannoma presses on the spinal cord, it can cause other symptoms such as numbness, tingling and weakness. Depending on the location of the tumors, patients may also experience difficulty urinating or bowel dysfunction, facial weakness, headaches, and vision changes.
Diagnostics
The diagnostic criteria for schwannomatosis follows strict guidelines. Only a doctor with expertise in the condition can provide an accurate diagnosis. The diagnosis of schwannomatosis includes several forms of testing: MRI (magnetic resonance) and CT (computed tomography) scans may be performed to look for growths on the nerve tissue. Pathologists may examine tissue from biopsied or removed tumors to determine the tumor type. Genetic testing may be conducted to look for changes associated with schwannomatosis or NF2.
Treatment
Symptom control consists of pain relief. Asymptomatic patients are followed and observed. When symptoms of spinal cord compression occur, a surgical intervention is indicated. 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. In some patients with large tumors, spinal stabilization and fusion may be performed following complete tumor removal.