Causes and risk factors
Neurofibromatosis is a genetic disorder. It is inherited. Mutation in genes results in neurofibromatosis. Neurofibromatosis is of three types- neurofibromatosis Type I and Neurofibromatosis Type II. Neurofibromatosis type I is caused due mutation of gene NF1 while type II is caused due to mutation in geneNF2. NF1gene is located on chromosome number 17 which produces a protein neurofibromin as the gene undergoes mutation there occurs loss of protein resulting in tumor formation similarly the gene NF2 also undergoes mutation resulting in loss of protein Merlin which is located on the same uncontrolled cell growth which causes formation of tumor. The last type is schwannomatosis which is recently identified. Incidence of this type is rare. It does not affect the brain or hearing areas neither the cranial nerves.
Clinical presentation
The symptoms vary from person to person. Type I has different presenting symptoms while type II has different. Appearance of light brown color spots called as café-au-lait is the characteristic feature of type I neurofibromatosis. Small pea shaped palpable mass are seen underneath the skin or along the course of nerve. Visible clusters of melanin (freckles) are seen in the groin and armpit areas. Physical development is hampered. The abnormalities in growth of bone is seen leading to deformity. Usually these symptoms become noticeable between the age of 10-15 years over a period of time they can pose not only pose disturbance in growth but also lead to psychological disturbances. In type II there occur tumor formation along the course of the eighth cranial nerves or in the brain and spinal cord. The person faces difficulty in vision and early cataract. Difficulty in balancing is seen. The person face hearing difficulty, a ringing sound is heard continuously in the ear. Atrophy of muscles, facial paralysis, numbness of extremities and weakness are other features seen. In cases of schwannomatosis chronic pain anywhere along the body is the characteristic feature.
Investigations
Diagnosis is done on the basis of symptoms narrated by the patient and the examination carried out by the doctor. Certain physical tests are also done. The doctors can advised CT scan, MRI and X-rays of the brain and spinal cord. Various blood tests, genetic testing along with auditory test is also done.
Treatment
There is no exact cure for neurofibromatosis. The treatment aims at symptomatic relief. Surgery is the only choice of treatment available, where the tumor is excised. Radiation treatment is also effective in neurofibromatosis type 2.
Other modes of treatment:
Certain other modes of treatment can also be helpful in coping up the symptom. Taking into consideration the symptoms in holistic way, homoeopathy can offer a good aid for the relief of the symptoms. The Ayurvedic system of medicine which uses herbs and synthetic derivates can also be beneficial in combating the complaints.
Recent update:
As per a study carried out by the UT Southwestern Medical Centre researchers, they have founded therapies that would possibly be able to reverse some aspect of the disease –Neurofibromatosis.
Facts and Figures:
Neurofibromatosis occurs in 1 in 3000 to 4000 people worldwide.
