Tuberous sclerosis (TS) is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs.

Children with TS or TS complex have tumors in multiple organs, including the heart, eyes, kidneys, lungs, and skin. Many children have kidney tumors, usually angiomyolipomas, which can cause hypertension and cystic kidney disease. Renal carcinoma can also occur. Some children also have cardiac rhabdomyomas. Brain tubers (gyral enlargements) and tumors, usually astrocytomas, can occur.

In families with several affected members, up to 4 separate gene sites have been identified. If either parent has the disorder, children have a 50% risk of having it. However, new mutations account for most new cases.

Symptoms and Signs

Affected children may have seizures, intellectual disability, autism, learning disorders, or behavioral problems. Infants may present with a type of seizure called infantile spasms (see Neurologic Disorders in Children: Infantile Spasms). Retinal patches are common and may be visible with funduscopy.

Skin findings include

• Initially pale, ash leaf–shaped macules, which develop during infancy or early childhood
• Angiofibromas of the face (adenoma sebaceum), which develop during later childhood
• Congenital shagreen patches (raised lesions resembling an orange peel), usually on the back
• Subcutaneous nodules
• Café-au-lait spots
• Subungual fibromas, which can develop any time during childhood or early adulthood

Tuberous Sclerosis

Diagnosis

• Imaging of affected organs
• Genetic testing

Cardiac or cranial manifestations may be visible on prenatal ultrasonography. MRI or ultrasonography of the affected organs is necessary for confirmation.

Specific genetic testing is available.

Prognosis

Prognosis depends on symptom severity. Infants with mild symptoms generally do well and live long, productive lives; infants with severe symptoms may have serious disabilities. Regardless of severity, most children show continued developmental progress. Occasionally, neurologic degeneration may occur and requires investigation.

Treatment

Treatment is symptomatic:

• For seizures: Anticonvulsants or even brain surgery
• For skin lesions: Dermabrasion or laser techniques
• For neurobehavioral problems: Behavior management techniques or drugs
• For hypertension caused by renal problems: Antihypertensives or surgery to remove growing tumors
• For developmental delays: Special schooling or occupational therapy

Genetic counseling is indicated for adolescents and adults of childbearing age.

Last full review/revision March 2009 by Margaret C. McBride, MD