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Tuberous
sclerosis is a dominantly inherited genetic disorder in which tumors
(usually hamartomas) affect multiple organs.
Children with tuberous sclerosis (TS or TS complex) have tumors of multiple organs. If either parent has TS, there is a 50% chance a child will have it. New mutations, however, account for most new cases. TS may affect the heart, eyes, lungs, and skin.
Symptoms and Signs
Affected children may have epilepsy, mental retardation, autism, learning disorders, or behavioral problems. Infants may present with a type of seizure called infantile spasms (see Seizure Disorders: Drug choice for long-term treatment). 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. Retinal patches are common.
Skin findings include initially pale, ash leaf–shaped macules, which develop in infancy or early childhood; angiofibromas of the face (adenoma sebaceum), which develop in later childhood; congenital shagreen patches (raised lesions that have an orange-peel consistency and usually appear on the back); subcutaneous nodules; café-au-lait spots; and subungual fibromas, which can develop any time in childhood or early adulthood.
Diagnosis
Cardiac or cranial manifestations may be visible on prenatal ultrasounds. Retinal patches may be visible with funduscopy. MRI or ultrasound of the affected organs is necessary for confirmation. Specific genetic testing is available.
Prognosis
and Treatment
Prognosis depends on symptom severity. Infants with mild symptoms generally do well and live long, productive lives, whereas infants with more severe symptoms may have serious disabilities. Regardless of severity, most children show continued developmental progress. Occasionally, neurologic degeneration may occur and requires investigation.
Treatment is symptomatic and may include anticonvulsants, or even brain surgery, for seizures. Skin lesions may be removed with dermabrasion or laser techniques. Drugs may be used for neurobehavioral problems and hypertension caused by renal problems, and surgery may be used to remove growing tumors. Genetic counseling is indicated for adolescents and adults of childbearing age.
Last full review/revision November 2005
Content last modified November 2005
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