Abstract
Investigators at Children's Memorial Health Institute, Warsaw, Poland, report monozygotic twin sisters with tuberous sclerosis complex (TSC), one treated with the mTOR inhibitor everolimus since age 4 years.
Highlights
Investigators at Children’s Memorial Health Institute, Warsaw, Poland, report monozygotic twin sisters with tuberous sclerosis complex (TSC), one treated with the mTOR inhibitor everolimus since age 4 years
8 (66.7%) were seizure-free and showed significantly higher postoperative developmental quotient (DQ) than those with seizures
In the seizure-free group, postoperative DQ correlated with postoperative seizure duration (p=0.01)
Summary
The authors conclude that early surgical intervention for hemimegalencephaly is preferable to brain damage from repeated seizures and encephalopathy and long-term AED use. A similar conclusion was reached by investigators at the Sorbonne, Paris, France, who reviewed the literature and reports of ~600 cases in the last 30 years Hemispheric surgical procedures are considered safe and can be performed from the first month of life. Residual insular cortex and contralateral MRI abnormalities are associated with persistent postoperative seizures and lack of cognitive improvement
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