How to manage neurofibromatosis?
Consultant Neurosurgeon,
Rajiv Gandhi Cancer Institute & Research Centre,
Delhi
Q: I am suffering from neurofibromatosis type 2. My father also had this problem. He had bilateral acoustice NF. He lost his hearing in both ears completely and had walking imbalance. He underwent two surgeries in his lifetime. I was diagnosed with the same problem eight years back. My left leg was thinner than my right leg. After an MRI, the condition was diagnosed as a tumour in the lumbar spine. I was operated without problems. Two years back, I started having problems with the weak left leg and began limping while walking. As per my doctor's suggestion, I got MRI done for both lumbar region and brain. A tumour in the lumbar spine and new tumours in the brain were detected. Subsequently, tumours were detected in cervical region also. The major tumours are in the lumbar region, left acoustic NF: about 3.5 cm, one above the optic nerve and in the neck. For left acoustic NF, I have undergone stereotactic radio therapy earlier this year. The symptoms I am having today are - left leg is very weak and becomes cold. I have to wear leg footrest splint for walking; I cannot hear from the left ear and have very low hearing in the right, which is decreasing rapidly. I have loss sensation on the left side of the face and have difficulty in controlling the left eye and mouth. I have imbalance while walking and have to depend on someone for walking. I am scheduled to have a surgery for left AN in a month. What is the best course of action for me for curative and preventive treatment for a healthy living in next few years?
A:Neurofibromatosis type-2 (NF2) and its forme fruste are indeed a challenging problem for any neurosurgeon and it is also an extremely difficult proposition of balancing the conservative versus operative management of different problems for any patient. The best approach is to deal with the lesions that are causing problems that hamper normal living. Although the problems may never be sorted ot completely, a balance has to be maintained between treatment (which may be aggressive at times) and quality of life and productivity. The hearing deficit in the left ear is obviously because of the left acoustic neuroma (AN) and the diminishing hearing in the right ear could be either due to a lesion developing in the right acoustic nerve or because of problems like dural ecatsia which can also be associated with NF. The problem in the legs weakness as well as the temperature problem could be either because of the cervical tumour (more likely if the lesion is large and causing any degree of spinal cord compression) or the lumbar tumour. It could also be because of the brain stem compression if there is any due to the AN. This distinction I am sure has been seen and explained to you by your doctor. The facial paralysis and the gait imbalance is because of the left AN pressing and damaging the facial nerve and part of the cerebellum (which is the part of brain that helps to maintain and coordinate balance in the body).One has to operate on the lesions that are directly responsible for the neurological damage and in your case the AN seems to be causing most of the problems. I am sure that you have been explained about the recovery patterns and likely deficits after surgery. I feel that you must also take advice on genetic counselling.