Tuberous Sclerosis literally means “hard swelling.” It is also known as Bourneville’s Disease. It is a neurocutaneous genetic disorder (meaning it has features that affect the skin and the nervous system) that is characterized by nodules that can be found mainly in the skin, brain, eyes, or kidneys. These nodules are sometimes referred to as hamartomas, which are benign malformations of normal tissue. These nodules are usually calcified and can be disfiguring. Tuberous Sclerosis is found in 1 in 6,000 to 10,000 live births. It is inherited as an autosomal dominant trait. It can also occur by spontaneous genetic mutation.
The signs and symptoms associated with tuberous sclerosis are mainly due to the location of the nodules. The classic signs and symptoms are seizures, mental retardation, and sebaceous adenomas. Other signs and symptoms include calcified brain lesions, hydrocephalus, and subependymal nodules.
Diagnosis is based on location and number of nodules. This is assessed with plain X-ray and/or CT scans.
The goal of treatment is control of symptoms rather than cure, as it is genetic. Seizures are controlled with anti-epileptic medication. Surgical resection is limited to those who have uncontrolled symptoms.
Patients with tuberous sclerosis are prone to develop a particular type of brain tumor called a subependymal giant cell astrocytoma (SEGA).
Lindsey Parker, PA-C and Justin F. Fraser, MD