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Tuberous sclerosis complex: Management and prognosis

John B Bodensteiner, MD
Stephanie Randle, MD, MS
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Alberto S Pappo, MD
Deputy Editor
John F Dashe, MD, PhD


Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder that is characterized by pleomorphic features involving many organ systems, including developmental delay and multiple benign hamartomas of the brain, eyes, heart, lung, liver, kidney, and skin. The expression of the disease varies substantially among individuals and within families. Some individuals with TSC may demonstrate only dermatologic features of the disease while others may develop more serious neurologic or systemic manifestations.

The management and prognosis of TSC will be reviewed here. Other aspects of TSC are discussed elsewhere. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis" and "Renal manifestations of tuberous sclerosis complex" and "Tuberous sclerosis complex associated lymphangioleiomyomatosis in adults".)


The management of TSC is directed at its neurologic and systemic manifestations, which include seizures, TSC-associated neuropsychiatric disorders, brain tumors, skin lesions, renal disease, pulmonary disease, cardiac involvement, and an increased risk of malignant tumors. Information regarding baseline evaluations, ongoing surveillance, and therapeutic interventions for these problems is provided in the sections that follow. Ideally, children with TSC should be cared for by specialized TSC clinics that have been established in many countries to address the medical needs and psychosocial challenges of affected patients, their families and caregivers [1].

Epilepsy — The most common and difficult aspect of management in TSC is the detection and treatment of seizures (see "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Seizures').

Monitoring — Many children with TSC develop focal seizures and infantile spasms during infancy. Therefore, international TSC guidelines recommend that parents should be educated to recognize these types of seizures even if none have occurred at the time of initial diagnosis [1]. In addition, all pediatric patients with TSC should have a baseline electroencephalography (EEG) even if seizures are not evident. Children who have an abnormal EEG, particularly those with features of TSC-associated neuropsychiatric disorders, should have a follow-up 24-hour video EEG to look for subclinical seizure activity or epileptiform discharges [2].

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Literature review current through: Nov 2017. | This topic last updated: Nov 16, 2017.
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