On the surgical treatment of refractory epilepsy in tuberous sclerosis complex

Pediatr Neurosurg. 1997 Dec;27(6):311-8. doi: 10.1159/000121276.

Abstract

The role of surgery in the treatment of refractory epilepsy (RE) in tuberous sclerosis complex (TSC) is poorly defined. Four patients with RE and TSC were evaluated for epilepsy surgery from 1994 to 1996. Three of four patients developed infantile spasms within 5 months of birth. These progressed to frequent complex partial and generalized tonic/myoclonic seizures refractory to antiepileptic drug therapy. Neuroimaging revealed typical findings of TSC including calcified lesions consistent with hamartomas. Clinical and EEG evidence suggested an epileptic focus near a prominent lesion in each child. This was confirmed using magnetic source imaging in 1 case. All patients underwent inpatient continuous video-EEG monitoring followed by temporal lobectomy or focal cortical resection with intraoperative EEG. Age at operation ranged from 5 to 13 years. Three out of 4 patients experienced a greater than 90% decrease in seizure activity. One patient continues to have rare complex partial seizures, and 1 has rare simple partial seizures. Tumor DNA analysis revealed mutations in the TSC1 gene in case 1 and the TSC2 gene in case 2; no mutations have been identified yet in cases 3 and 4. Temporal lobectomy and focal cortical resection can result in improved seizure control in patients with TSC and RE.

MeSH terms

  • Adolescent
  • Cerebral Cortex / surgery
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 9
  • Electroencephalography
  • Epilepsy / diagnosis
  • Epilepsy / etiology
  • Epilepsy / genetics
  • Epilepsy / surgery*
  • Female
  • Gene Expression / physiology
  • Humans
  • Magnetic Resonance Imaging
  • Magnetoencephalography
  • Male
  • Monitoring, Physiologic
  • Proteins / genetics
  • Psychosurgery
  • Repressor Proteins / genetics
  • Treatment Outcome
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / surgery*
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins