Tuberous sclerosis complex: Management
- James Owens, MD, PhD
James Owens, MD, PhD
- Associate Professor of Neurology
- Adjunct Associate Professor of Pediatrics
- University of Washington School of Medicine
- John B Bodensteiner, MD
John B Bodensteiner, MD
- Senior Associate Consultant in Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Section Editors
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Alberto S Pappo, MD
Alberto S Pappo, MD
- Section Editor — Pediatric Oncology
- Head of Solid Malignancies Program
- St. Jude Children's Research Hospital
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 "Pulmonary involvement in tuberous sclerosis complex".)
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 .
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 . 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 .
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- - Monitoring
- - Seizure control
- - Refractory epilepsy
- Brain lesions
- - Brain imaging
- - Brain tumor treatment
- - Everolimus and mTOR inhibitors
- Cognitive and behavioral problems
- Skin lesions
- Dental and oral lesions
- Renal disease
- Pulmonary disease
- Cardiac problems
- Ophthalmologic evaluation
- Causes of death
- SUMMARY AND RECOMMENDATIONS