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About Tuberous Sclerosis

Tuberous sclerosis is a congenital condition in which abnormal growths arise throughout the body.  Surgical treatments may include brain tumor surgery, laser ablation, shunt placement and/or epilepsy surgery.  Nonsurgical approaches—chemotherapy and/or anticonvulsant medication—may also be effective, either as alternatives to surgery or in combination with surgery.

At this time, no cures exist for tuberous sclerosis. However, available treatments may relieve many symptoms of the disorder and restore a sense of normalcy to a patient’s life.

Tuberous sclerosis is one of several congenital neurological disorders known as neurocutaneous syndromes. The group also includes neurofibromatosis type 1 and type 2.

The abnormal growths that characterize tuberous sclerosis are benign, tumor-like growths called hamartomas. Hamartoma is a general term that describes any benign growth that is a disorganized mixture of cell types normally found in an area. These abnormal growths can arise in any organ, favoring the brain, spinal cord, skin, eyes, lungs, kidneys and heart. Over time, they calcify and harden. When hamartomas arise in the brain, they are called cortical hamartomas.

Individuals with tuberous sclerosis are at increased risk to develop certain types of brain tumors. Those that arise most frequently include:

  • Subependymal giant cell astrocytomas—These tumors occur almost exclusively among people with tuberous sclerosis and arise in about 15 percent of individuals with the disease. They are found in the ventricles, particularly the lateral ventricles and the foramen of Monro. Despite the name, a subependymal giant cell astrocytoma arises from a mixture of glial and other cells, not purely astrocytes, and therefore is not a type of astrocytoma.
  • Subependymal nodules—These are benign tumors that arise from the ventricles and occur among most individuals with tuberous sclerosis. Subependymal nodules can become subependymal giant cell astrocytomas.

patient journey

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