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Epileptic spasms in tuberous sclerosis complex

David T Hsieh1, Melanie M Jennesson, Elizabeth A Thiele

  • 1Pediatric Epilepsy Program, Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA 02114-2796, USA. david.t.hsieh.mil@mail.mil

Epilepsy Research
|June 26, 2013
PubMed

Insights

Epileptic spasms (ES) in tuberous sclerosis complex (TSC) are not uncommon after age two, often occurring with other seizure types. Vigabatrin (VGB) shows some effectiveness but is less successful for ES than for infantile spasms in TSC.

Area of Science:

  • Neurology
  • Genetics
  • Epileptology

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder associated with various neurological complications, including epilepsy.
  • Epileptic spasms (ES) are a challenging seizure type, particularly in the context of TSC.
  • Vigabatrin (VGB) is a first-line treatment for infantile spasms (IS) in TSC, but its efficacy for later-onset ES is less understood.

Purpose of the Study:

  • To characterize epileptic spasms (ES) in patients with tuberous sclerosis complex (TSC) occurring after the age of two years.
  • To evaluate the treatment response to vigabatrin (VGB) for these later-onset ES in TSC.

Main Methods:

  • Retrospective review of 19 patients diagnosed with TSC and ES.
  • Analysis of clinical data, treatment outcomes, neurocognitive status, EEG, MRI findings, and genetic mutations.
  • Assessment of VGB efficacy and comparison with other treatments and epilepsy surgery.

Main Results:

  • Epileptic spasms (ES) were identified in 4.8% of 391 TSC patients, with onset or persistence after age two.
  • These ES occurred alongside other seizure types, and hypsarrhythmia was rare on EEG.
  • Vigabatrin (VGB) led to spasm freedom in 4 out of 13 treated patients, with combined dietary therapy showing benefit in one case; epilepsy surgery was effective in five patients, but seven patients remained refractory to VGB.

Conclusions:

  • Epileptic spasms (ES) are a significant clinical feature in tuberous sclerosis complex (TSC), particularly in those with TSC2 mutations.
  • ES in TSC often present as part of refractory epilepsy with diverse seizure types.
  • While VGB can be effective for ES in TSC, its success rate is not comparable to its efficacy in infantile spasms (IS) within the same condition.
Abstract

Keywords:
AEDEEGESEpileptic spasmsILAEIQISInfantile spasmsInternational League Against EpilepsyLGITMRITSCTuberous sclerosis complexVGBVigabatrinanti-epileptic drugelectroencephalogramepileptic spasmsinfantile spasmsintelligence quotientlow glycemic index treatmentmagnetic resonance imagingtuberous sclerosis complexvigabatrin

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