Neurocutaneous Syndromes are a group of rare neurological disorders that impact the spine, brain, and peripheral nerves. These conditions are usually lifelong problems that can cause tumours to grow in the brain, on the spinal cord, on the skin, or in the bones of the body. The three most common kinds of Neurocutaneous Syndromes are Tuberous Sclerosis (TS), Neurofibromatosis (NF), Type I, Type II, and schwannomatosis, and Sturge-Weber disease.
The symptoms of these conditions can vary depending on which of the various Neurocutaneous Syndromes is present in each patient.
In this version of Neurocutaneous Syndrome, growths which are also called tubers, can be found growing in the brain and the retina of the eye. This version of Neurocutaneous Syndrome can impact the spine, the brain, the lungs, the heart, the kidneys, the skin, and the skeleton. The symptoms usually appear early in life and can be associated with developmental delays, seizures, and learning disabilities.
This version of Neurocutaneous Syndrome has a Type I, Type II, and also a form called Schwannomatosis. In Type I and Type II, the common symptoms are café-au-lait coloured spots, skin tumours called neurofibromas, brain tumours, small tumours in the eye, hearing loss, headaches, seizures, scoliosis, and facial pain and numbness. In Type II, the tumours are usually located on the eighth cranial nerve, which leads to loss of balance, hearing loss, headaches, problems walking, café-au-lait spots on the skin, and skin nodules. In Schwannomatosis, extreme pain is the most common symptom. Numbness, tingling, and weakness in the fingers and toes are common in this disorder as well.
The primary symptom of this condition is a port-wine stain on the face of the affected child. This condition can also include seizures, muscle weakness, changes in vision, and intellectual disability. Glaucoma can also be present right from birth.
These various conditions are caused by genetics. Some patients can actually express symptoms after a gene mutation causes them to appear for the first time. Not every one of the Neurocutaneous Syndromes has been linked with a clear hereditary link. More study into the various kinds of Neurocutaneous Syndromes is required.
The risk factors for Neurocutaneous Syndromes are entirely genetic. If there is anyone in the family with Neurocutaneous Syndromes, a child will be much more likely to inherit the genes that cause this condition.
There are a variety of different diagnostic tests that can be done to help identify Neurocutaneous Syndromes. Blood tests are commonly done, and genetic testing is also usually required for diagnosis as well. X-rays, MRI, and CT scans might be needed to assess the health of the organs and to locate tumours that have been caused by the particular Neurocutaneous Syndrome that is present in each patient. An eye examination is commonly done to see if the eyes have been impacted by the condition as well. In some cases, tissue samples will also be needed to help confirm the diagnosis and to rule out other health conditions.
The age of the patient, as well as the severity of the patient’s symptoms, will impact the treatment that is used. Many patients will require the support of various specialists to help manage their health. A neurologist, neurosurgeon, orthopaedic surgeon, and ophthalmologist might all need to help manage treatment and supportive care for these patients. Many of these patients will also need care from a physical or occupational therapist. Other patients will also need speech therapy and audiology therapy.
Surgery can be used to remove tumours that are causing major difficulties for the patient, but in most cases, supportive care and management are necessary for the entirety of a patient’s life. Most patients will not be aware of the full extent of the symptoms that they are going to experience until they have reached adulthood. Treatment often varies and changes over time as new symptoms and changes to a patient’s overall well-being become a factor related to their care.
Prevention of these conditions is not possible since they are congenital. Genetic testing might be recommended for those who are related to people who have a Neurocutaneous Syndrome.