Vigabatrin for tuberous sclerosis complex

Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge–Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders—TSC, neurofibromatosis type 1, and SWS.

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“…The vigabatrin response rate is between 73% and 96% (28). It is unknown why vigabatrin works so well in TSC-associated infantile spasms.…”

Section: Tuberous Sclerosis Complexmentioning

confidence: 99%

Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome

2017

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“…14,49 In children with treatment-resistant epilepsy, better seizure control can result in improved developmental and cognitive outcome and quality of life. 13,18,27,28,31,54 Moreover, numerous studies found that VNS can benefit attention, cognition, behavior, mood, and quality of life independent of reduced seizure burden. 1,22,24,25,35,41 These findings suggest that consideration of VNS earlier in the course of refractory disease is warranted.…”

Section: Seizure Control and Developmentmentioning

confidence: 99%

Vagus nerve stimulation for children with treatment-resistant epilepsy: a consecutive series of 141 cases

Elliott¹,

Rodgers²,

Bassani³

et al. 2011

PED

170

104

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Object The authors undertook this study to analyze the efficacy of vagus nerve stimulation (VNS) in a large consecutive series of children 18 years of age and younger with treatment-resistant epilepsy and compare the safety and efficacy in children under 12 years of age with the outcomes in older children. Methods The authors retrospectively reviewed 141 consecutive cases involving children (75 girls and 66 boys) with treatment-resistant epilepsy in whom primary VNS implantation was performed by the senior author between November 1997 and April 2008 and who had at least 1 year of follow-up since implantation. The patients' mean age at vagus nerve stimulator insertion was 11.1 years (range 1–18 years). Eighty-six children (61.0%) were younger than 12 years at time of VNS insertion (which constitutes off-label usage of this device). Results Follow-up was complete for 91.8% of patients and the mean duration of VNS therapy in these patients was 5.2 years (range 25 days–11.4 years). Seizure frequency significantly improved with VNS therapy (mean reduction 58.9%, p < 0.0001) without a significant reduction in antiepileptic medication burden (median number of antiepileptic drugs taken 3, unchanged). Reduction in seizure frequency of at least 50% occurred in 64.8% of patients and 41.4% of patients experienced at least a 75% reduction. Major (3) and minor (6) complications occurred in 9 patients (6.4%) and included 1 deep infection requiring device removal, 1 pneumothorax, 2 superficial infections treated with antibiotics, 1 seroma/hematoma treated with aspiration, persistent cough in 1 patient, severe but transient neck pain in 1 patient, and hoarseness in 2 patients. There was no difference in efficacy or complications between children 12 years of age and older (FDA-approved indication) and those younger than 12 years of age (off-label usage). Linear regression analyses did not identify any demographic and clinical variables that predicted response to VNS. Conclusions Vagus nerve stimulation is a safe and effective treatment for treatment-resistant epilepsy in young adults and children. Over 50% of patients experienced at least 50% reduction in seizure burden. Children younger than 12 years had a response similar to that of older children with no increase in complications. Given the efficacy of this device and the devastating effects of persistent epilepsy during critical developmental epochs, randomized trials are needed to potentially expand the indications for VNS to include younger children.

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“…Эпилептические приступы являются пер-вым симптомом приблизительно в 60 % наблюдений, но во многих случаях диагноз устанавливается не сра-зу, даже при наличии и других клинических проявле-ний заболевания [21,60]. Эпилепсия при ТС часто протекает тяжело, и достаточного контроля эпилеп-тических приступов на фоне медикаментозной тера-пии удается достичь менее чем у половины пациентов [13,18,19]. Высокий риск умственной отсталости (50-80 %) [13,21,42,53,54] и тот факт, что у многих пациентов с ТС наблюдаются признаки аутизма [20,24,66], -дополнительные факторы, повышающие тяжесть заболевания.…”

Section: том хunclassified