Tuberous Sclerosis Questions & Answers

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Questions & Answers

Overview

What is tuberous sclerosis complex (TSC)?

Which physical findings are characteristic of tuberous sclerosis complex (TSC)?

What is the role of lab testing in the diagnosis of tuberous sclerosis complex (TSC)?

What is the role of imaging studies in the diagnosis of tuberous sclerosis complex (TSC)?

What are the roles of EEG and ECG in the assessment of tuberous sclerosis complex (TSC)?

How is tuberous sclerosis complex (TSC) treated?

What is the role of surgery in the treatment of tuberous sclerosis complex (TSC)?

What is tuberous sclerosis complex (TSC)?

What is the pathophysiology of tuberous sclerosis complex (TSC)?

What is the role of mammalian target of rapamycin (mTOR) in the pathogenesis of tuberous sclerosis complex (TSC)?

What is the role of genetics in the pathogenesis of tuberous sclerosis complex (TSC)?

What is the prevalence of tuberous sclerosis complex (TSC)?

What is the mortality and morbidity associated with tuberous sclerosis complex (TSC)?

Which patient groups have the highest risk for developing tuberous sclerosis complex (TSC)?

What are the age-related predilections of tuberous sclerosis complex (TSC)?

Presentation

Which clinical history findings are characteristic of tuberous sclerosis complex (TSC)?

What is the focus of the clinical history for the evaluation of tuberous sclerosis complex (TSC)?

What is included in the family history for evaluation of tuberous sclerosis complex (TSC)?

What are major features of tuberous sclerosis complex (TSC)?

What are minor features of tuberous sclerosis complex (TSC)?

What are the diagnostic criteria for tuberous sclerosis complex (TSC)?

What is the role of genetic testing in the diagnosis of tuberous sclerosis complex (TSC)?

Which findings are characteristic of tuberous sclerosis complex (TSC)?

Which neurological findings are characteristic of tuberous sclerosis complex (TSC)?

Which cutaneous findings are characteristic of tuberous sclerosis complex (TSC)?

Which cardiac findings are characteristic of tuberous sclerosis complex (TSC)?

Which ophthalmic findings are characteristic of tuberous sclerosis complex (TSC)?

Which pulmonary findings are characteristic of tuberous sclerosis complex (TSC)?

Which renal findings are characteristic of tuberous sclerosis complex (TSC)?

Which dental findings are characteristic of tuberous sclerosis complex (TSC)?

What are the systemic findings characteristic of tuberous sclerosis complex (TSC)?

DDX

What are the differential diagnoses for Tuberous Sclerosis?

Workup

What is the role of lab testing in the workup of tuberous sclerosis complex (TSC)?

What is the role of CT scanning and MRI in the workup of tuberous sclerosis complex (TSC)?

What is the role of imaging studies in the workup of tuberous sclerosis complex (TSC)?

What is the role of renal ultrasounds in the workup of tuberous sclerosis complex (TSC)?

What is the role of echocardiograms in the workup of tuberous sclerosis complex (TSC)?

What is the role of PET scanning in the workup of tuberous sclerosis complex (TSC)?

What is the role of SPECT scanning in the workup of tuberous sclerosis complex (TSC)?

What is the role of EEG in the workup of tuberous sclerosis complex (TSC)?

What is the role of ECG in the workup of tuberous sclerosis complex (TSC)?

Treatment

How is tuberous sclerosis complex (TSC) treated?

What is the efficacy of sirolimus for the treatment of tuberous sclerosis complex (TSC)?

What is the efficacy of everolimus for the treatment of tuberous sclerosis complex (TSC)?

What is the role of laser therapy in the treatment of tuberous sclerosis complex (TSC)?

What is the goal of treatment for tuberous sclerosis complex (TSC)?

How is epilepsy treated in tuberous sclerosis complex (TSC)?

What is the role of antiepileptic medications (AEDs) in the treatment of tuberous sclerosis complex (TSC)?

What is the role of surgery in the treatment of tuberous sclerosis complex (TSC)?

Which specialist consultations are beneficial to patients with tuberous sclerosis complex (TSC)?

What is the role of ketogenic diet in the treatment of tuberous sclerosis complex (TSC)?

Medications

What is the goal of drug treatment for tuberous sclerosis complex (TSC)?

Which medications in the drug class Benzodiazepines are used in the treatment of Tuberous Sclerosis?

Which medications in the drug class Adrenocorticotropic Agents are used in the treatment of Tuberous Sclerosis?

Which medications in the drug class Anticonvulsants are used in the treatment of Tuberous Sclerosis?

Which medications in the drug class mTOr Kinase Inhibitors are used in the treatment of Tuberous Sclerosis?

Follow-up

What is included in inpatient care for tuberous sclerosis complex (TSC)?

What are the possible complications of tuberous sclerosis complex (TSC)?

What is the prognosis of tuberous sclerosis complex (TSC)?