The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for tuberous sclerosis in children from Louisville, Kentucky, and Southern Indiana.

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 magnetic resonance imaging (MRI) of the brain, 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).

Your child may be referred to the multidisciplinary Norton Children’s Tuberous Sclerosis Clinic.

Why Norton Children’s Neuroscience Institute?

• The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
• We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
• Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
• The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
  • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
  • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
• We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
• Our multidisciplinary craniofacial program was the first established in the Midwest.
• We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
• We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
• Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
• We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Leah G. Todd, LCSW

Kelly Jackson, genetic counselor