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Tuberous Sclerosis Complex

Michele Roberts, MD, PhD Reviewed 06/2018
 


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 (5)

  • 35% present p...

TREATMENT

MEDICATION

  • Anticonvulsants for seizure control. Vigabatrin most commonly used for control of infantile 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 infantile spasms.

    • Annual ophthalmologic exam (7)[C]

    • Annual developmenta...

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 Abstract on OvidMedline]
2
Gipson ...

SEE ALSO

Neurofibromatosis Type 1 

CODES

ICD10

Q85.1 Tuberous sclerosis 

ICD9

759.5 Tuberous sclerosis 

SNOMED

  • 7199000 tuberous sclerosis syndrome (disorder)

  • 36025004 Fibrous skin tumor of tuberous sclerosis (disorder)

  • 254243001 Ash leaf spot...

CLINICAL PEARLS

  • Hypopigmented areas (ash-leaf spots), on the trunk and extremities, often the first sign; present at birth or shortly after (50%), best seen with a Wood lamp

  • Cardiac rhabdomyoma may be ...

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