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Tuberous Sclerosis Complex, Pediatric

Francis J. DiMario, Jr., MD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • Tuberous sclerosis complex (TSC) is an autosomal dominant, neurocutaneous, multisystem disorder characterized by clinical signs and symptoms that are highly variable and individual.

  • D...

DIAGNOSIS

  • TSC should be considered in patients who are identified with any of the following:

    • Prenatally identified cardiac rhabdomyoma, infantile spasms

    • Autism

    • Cognitive impairment/developmental delay

    • Mul...

TREATMENT

MEDICATION

  • Organ and symptom specific treatments are indicated (e.g., anticonvulsants for seizures).

  • Clinical evidence supports the use of mTOR inhibitors in many TSC-associated disease manife...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Once a diagnosis of TSC is established and baseline evaluations completed, surveillance for progression of known problems or the development of new lesions is nee...

ADDITIONAL READING

  • Curatolo P, Bjørnvold M, Dill PE, et al. The role of mTOR inhibitors in the treatment of patients with tuberous sclerosis complex: evidence-based and expert opinions. Drugs.  2...

CODES

ICD9

759.5 Tuberous sclerosis 

ICD10

Q85.1 Tuberous sclerosis 

SNOMED

  • 7199000 tuberous sclerosis syndrome (disorder)

  • 36025004 Fibrous skin tumor of tuberous sclerosis (disorder)

FAQ

  • Q: Can tuberous sclerosis be transmitted in subsequent pregnancies?

  • A: An affected patient with the tuberous sclerosis gene mutation has a 50% chance of transmitting the mutation to his or her chil...

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