Neurofibromatosis is a genetic condition in which cell growth is disrupted throughout various areas of the nervous system causing tumors to grow on the body’s nervous tissues. Disruption can occur anywhere in the nervous system including but not limited to; the brain, spinal cord, various ligaments of the spine, vertebral canal and other nerves throughout the body. In many cases, the tumors found are often benign but in rare cases, they can become cancerous over time without recognition.
Neurofibromatosis is often identified at birth and is categorized into two types; Type 1 is most often recognized by brown colored birth marks on the skin; also referred to as “café au lait” spots. Type 1 neurofibromatosis is rarely cancerous but may cause vision problems and in severe cases, mental retardation. Type 2 neurofibromatosis is more severe of the two types, disrupting the vestibular system and brain. Type 2 tumor growth may often create hearing loss, difficulty with balance and other proprioceptive deficits not found with Type 1 neurofibromatosis. Primarily, Type 1 and Type 2 neurofibromatosis can be distinguished at the time of their diagnosis; type 1 is most commonly recognized as a genetic disorder at birth, whereas Type 2 is often recognized during late childhood without a family history of neurofibromatosis.
Diagnostic imaging and vestibular examinations is key to accurate diagnosis. Surgical removal of tumors is suggested when compression of a nerve or nervous structure has occurred or if the tumor is cancerous. Auditory and cochlear brainstem implants may be used to accommodate for any hearing and balance loss due to Type 2 neurofibromatosis, however these scenarios are rare; 1 in 25,000 people are affected by type 2 neurofibromatosis.