Neurofibromatosis - Medical Malpractice Lawyers

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Neurofibromatosis - Medical Malpractice

Neurofibromatosis is a genetic disorder of the nervous system that affects how nerve cells grow. Tumours are produced beneath the skin and inside internal organs. Some nerves can become malignant and can turn into cancer. There can be severe pain with neurofibromatosis, especially when bones are involved. There is often learning disabilities, hearing and vision loss and behavioural problems. Neurofibromatosis is a very common neurologic disorder, occurring in 1 in 4000 people (type I disease) and in 1 in 50,000 people in type 2 disease. There are three types of neurofibromatosis that are related in appearance but have different outcomes and symptoms. Neurofibromatosis or NF affects males and females equally and occurs in all ethnic groups and races.

Neurofibromatosis is (half the time) inherited in an autosomal dominant fashion in which half the children of a person with NF also get the disease. The rest are just spontaneous mutations with no previous family history.

There are three types of neurofibromatosis. The first is called type 1 NF and is transmitted via a mutation on chromosome 17. There are areas of many birthmarks that show up shortly after birth. As childhood progresses, thousands of tumours show up under the skin. These lesions can become cancerous. Type 2 NF results from a mutation or deletion of the NF2 gene on chromosome 22. Tumours show up on the nervous system, particularly in the head and neck area and tumours are often showing up within the cranium and on the vestibulocochlear nerve. These are called acoustic neuromas and can lead to deafness. The symptoms show up during the late teen years or the early twenties. Like type I NF, the tumours can become cancerous. Schwannomatosis is a more rare form of neurofibromatosis. Benign tumours can form in the peripheral nerves leading to severe and chronic pain, which can occur anywhere peripheral nerves occur.

Symptoms of type I NF include multiple café au lait spots or birth marks that occur starting in infancy. The lesions can be anywhere on the body. Just because you have a few café au lait spots doesn't mean you have neurofibromatosis. Those with the disease usually have many such spots. In adolescence, lumps form beneath the skin or on the skin. The tumours are usually painless but in 2-5 percent of cases they become cancerous and are painful. It is important to watch for malignant transformation of these lesions. Other symptoms that can be related include spinal curvature or scoliosis, enlargement of the bones, which can be deformed and painful, dizziness, loss of hearing, learning disabilities and vision loss, created by tumours of the optic nerve.

Type 2 neurofibromatosis involves tumours that primarily affect the eighth cranial nerve, which affects hearing and balance. They can have increased dizziness, tinnitus, poor balance and severe hearing loss. The symptoms affect those in adolescence and in young adulthood. Skin lesions often do not show up in type 2 disease. In Schwannomatosis, the hallmark is chronic and severe pain that occurs in one or more parts of the body. A third of the time, it occurs in just one arm or leg.

The diagnosis of neurofibromatosis is based on a thorough history and physical. There should be a discussion of family history of NF as well as a personal history. The examination should look for café au lait spots, seen especially in type 1 NF. Genetic testing can show the presence of specific gene lesions that identify a person as having neurofibromatosis. Some of the café au lait spots are large, while others can look just like large freckles. They usually get darker with age. NF especially can show lesions in odd areas, such as the groin and the armpits.

The tumours of NF are soft and can be pressed into the skin by pushing on them. This is not true of other fatty tumours of the skin, such as lipomas. The ophthalmologist can look for benign lesions of the optic nerve known as Lisch nodules.

An MRI of the brain and spinal cord can show tumours of these areas within the cranium or along the spinal cord. The MRI is high definition, able to show even the smallest tumours.

There is no cure for neurofibromatosis. Doctors can remove the tumours on the eighth cranial nerve to help hearing and balance and particularly painful lesions can be removed surgically.

The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here