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Tuberous Sclerosis Complex

Michele Roberts, MD PhD Reviewed 06/2021
 


BASICS

DESCRIPTION

  • Tuberous sclerosis complex (TSC) is a genetic neurocutaneous syndrome (phakomatosis).

  • Classic triad: intellectual disability, facial angiofibromas, and seizures; multiple hamartomas

  • Sy...

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 (4).

  • 35% present...

TREATMENT

MEDICATION

  • Anticonvulsants for seizure control. Vigabatrin most commonly used for control of epileptic spasms of children with TSC (serial visual field testing necessary). Early control of se...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Pediatric

    • Annual physical exam, growth assessment

    • Teach parents to recognize epileptic spasms.

    • Annual ophthalmologic exam (6)[C]

    • Annual development...

REFERENCES

1
Curatolo  P, Moavero  R, de Vries  PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol.  2015;14(7):733–745. [View Abstr...

ADDITIONAL READING

  • Randle SC. Tuberous sclerosis complex: A review. Pediatric Annals. 2017:46(4):11e166–171.

  • Wataya-Kaneda M, Uemura M, Fujita K, et al. Tuberous scleros...

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  (7)[C].

  • Hypopigmented macules (ash-leaf sp...

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