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Tuberous Sclerosis Complex

Melinda W. Ng, MD and Breanna Gawrys, DO Reviewed 05/2023
 


BASICS

DESCRIPTION

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous syndrome (phakomatosis). Classic triad: intellectual disability, facial angiofibromas, and seizures; multiple hamartomas....

DIAGNOSIS

Most common initial presenting signs in infants: cardiac rhabdomyomas (59%), hypopigmented macules or other skin findings (39%); 85% of infants presented with either or both. 35% present pre...

TREATMENT

MEDICATION

  • Anticonvulsants for seizure control e.g. Vigabatrin (titrated rapidly up to 100-150 mg/kg/day) (1)[C]

  • 2nd-line therapy for refractory seizures: mTOR inhibitors (e.g. everolimus, si...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Brain MRI every 1-3 years in asymptomatic patients < 25 years old to monitor for SEGA (1)[C]

  • EEG in asymptomatic infants every 6 weeks up to ...

REFERENCES

1
Northrup H, Aronow ME, Bebin EM, et al; for International Tuberous Sclerosis Complex Consensus Group. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance ...

SEE ALSO

Neurofibromatosis Type 1 

CODES

ICD10

Q85.1 Tuberous sclerosis 

SNOMED

  • 7199000 tuberous sclerosis syndrome (disorder)

  • 36025004 Fibrous skin tumor of tuberous sclerosis (disorder)

  • 254243001 Ash leaf spot, tuberous sclerosis (disorde...

CLINICAL PEARLS

  • TSC1 not always milder than TSC2. Consensus guidelines for surveillance do not depend on gene or variant identified, or on level of mosaicism

  • Hypopigmented macules (ash-leaf spots), on ...

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