Tuberous Sclerosis

What Is Tuberous Sclerosis?

Tuberous sclerosis (TS) is a rare genetic disorder associated with tumors that form in various parts of the body, including the skin, brain, eyes, heart, kidneys and lungs.

Most of these tumors are considered benign, or noncancerous. These may grow, but they do not tend to spread to other areas of the body. The extent of these tumors and other symptoms associated with TS vary greatly among individuals.

Tumors affecting the brain include subependymal nodules, subependymal giant cell astrocytomas (SEGAs) and tubers.

Tuberous Sclerosis Symptoms

Children with TS frequently have seizures during infancy. They are at risk for a severe form of epilepsy in childhood called infantile spasms. Children with TS may have delays in reaching developmental milestones and may have intellectual disabilities.

A child’s eyes also may be affected if small tumors develop on the retina. These tumors also may involve the optic nerves, which send signals from the retina to the brain.

Some children have changes on the skin, including patches or spots of decreased pigment; small raised bumps on the face known as angiofibromas; plaques of raised, thickened skin on the forehead, scalp or cheeks; and areas of irregularly shaped, thickened, flesh-colored rash called a shagreen patch.

A child can develop tumors called angiomyolipomas that affect the kidneys. Cysts in the kidneys also are more prevalent in people with TS. Sometimes a condition more common in adults, called lymphangioleiomyomatosis (LAM), develops in the lungs and affects breathing. Babies with TS may be born with a tumor in the heart called a rhabdomyoma. These may cause arrhythmias or obstruction in blood flow through the heart. They typically regress on their own over time.

Diagnosis

If our team suspects your child has TS based on skin findings or seizures, we will order additional tests. These tests may include imaging of the brain (MRI), imaging of the heart (echocardiogram) and imaging of the kidneys (renal ultrasound). Complete neurological and ophthalmologic (eye) exams may be performed. If we suspect seizures, electroencephalography (EEG) will be performed. We also may order blood tests, including genetic testing.

Tuberous Sclerosis Treatment

Though there is no cure for TS, our multidisciplinary TS team will work together to address active issues and monitor your child for the development of other aspects of the disease as they arise. Many children with TS require antiepileptic medications in order to reduce the risk of seizures. There are medications available to help reduce the size of SEGAs and kidney tumors, should these develop.

Some patients with TS may be candidates for surgery. If your child’s seizures are resistant to medications, your child will be evaluated by our refractory epilepsy team and evaluated for possible epilepsy surgery.

Other surgical options include removal of small lesions (focal cortical resection), separation of the two hemispheres of the brain (corpus callosotomy) and placement of a vagal nerve stimulator. SEGAs may require surgery if they cause blockage of spinal fluid flow (hydrocephalus).

Leah G. Todd, LCSW

Kelly Jackson, genetic counselor

Neuroscience

Norton Children’s Neuroscience Institute

Connect with the Norton Children’s neurology team
(502) 588-3650

Connect with the Norton Children’s neurosurgery team
(502) 583-1697

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