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Neurofibromatosis
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Neurofibromatosis is a genetic disease that causes unchecked growth in the cells of the nervous system. It causes tumors to grow on nerve-related tissue. You can get the tumors in the brain, in small or large nerves or on the spinal cord. The disease is usually diagnosed when the sufferer is in childhood or up to young adulthood.
Neurofibromas are the tumors that grow out of the nerves and are not cancerous. Because it can damage normal nerves, it can cause problems in any area of the nervous system, including difficulties in hearing, learning disabilities and heart problems. Cancer can arise in rare cases.
There are three types of neurofibromatosis. In NF1 or neurofibromatosis 1, children develop flat cafe au lait spots on the skin. These are flat oval brown spots, like moles. Freckles occur in the armpits or groin around the age of 5. Neurofibromas occur underneath the skin and are like soft bumps. There are bone abnormalities and nodules on the iris of the eyes. There can be learning disabilities that are usually mild. The head size is bigger than normal and the child is shorter than normal.
Neurofibromatosis type 2 is less common than NF1. The signs and symptoms of this type of neurofibromatosis involve benign tumors of the ear, also called acoustic neuromas. This affects balance, hearing and causes ringing in the ears. It can affect other nerves of the body as well but the nerves of the ears are most commonly affected. You can also get cataracts and numbness or weakness of the arms or legs.
Schwannomatosis is a third type of neurofibromatosis that has been recently discovered. It affects men and women in their 20s or 30s. It causes acoustic neuromas as well as cranial, peripheral and spinal neurofibromas. The tumors are called schwannomas. It does not affect the cranial nerve that affects hearing so hearing loss is less common than with NF2. The main symptom is chronic pain that can be anyplace in the body.
The cause of NF1 and NF2 is a genetic mutation. With NF1, the disease is caused by a mutation in a gene on chromosome 17. It is a gene that produces neurofibromin, a protein found in the nervous system. In NF2, the gene involved is on chromosome 22. It is a gene that normally produces a protein called merlin. A loss of merlin means an uncontrolled growth of nerve tissue. In many familial cases of schwannomatosis, there is a mutation of a SMARCB1/INI 1 gene but there are unknown causes of the disease as well.
NF1 and NF2 are autosomal dominant diseases, meaning that a person with the disease has a fifty percent chance of passing it onto their children. Many cases, however, are spontaneous mutations, with no familial background of the disease. In schwannomatosis, the inheritance is less clear, with a fifteen percent chance of passing the disease onto an affected child.
Tests for neurofibromatosis include a thorough physical and history by the physician. Particular attention is paid to familial cases of neurofibromatosis. The doctor looks for cafe au lait spots and neurofibromas. Biopsies of the suspected lesions can be done to prove the presence of neurofibromas. An eye exam can look at the irises for nodules and an ear exam checks for damage to the acoustic nerve. Genetic testing can be done prenatally to see if the fetus has the disease. Sometimes CT scans or MRI exams are done to look for deep nerve involvement or spinal cord involvement.
The treatment of neurofibromatosis involves the monitoring of the patient for complications of neurofibromatosis. The patient is checked for growth and development and any skeletal problems are assessed and managed before there is too much bone involvement. Complete eye exams are done on a routine basis. Neurofibromas are removed using surgery if the tumor is growing rapidly or if it is pushing on a nearby organ or nerve. Complete removal of the tumors involved in schwannomatosis will remove the pain caused by this disease. The tumors often grow back but are at least gone for several years.
Laser therapy can be performed to remove surface lesions for cosmetic purposes. Many patients also need a back brace to correct scoliosis common in the disease. If any lesions become cancerous, they are treated with surgery, radiation therapy and chemotherapy.