Effect Of Rapamycin In Children With Ttiberous Sclerosis Complex And Epilepsy: A Self-control Study

Objective: To evaluate the therapeutic effect and safety of rapamycin in children withtuberous sclerosis complex and epilepsyMethod: This is a self-control study to compare the difference before and aftertreatment（ChiCTR-OCH-13003763）. Clinical data of156children diagnosedwith tuberous sclerosis complex from September2009to April2014at pediatricoutpatient department of PLA general hospital were collected.89were enrolledbased on inclusion and exclusion criteria. These children were given rapamycin (1mg/m2/d) through oral treatment. Clinical data of53children who had completedat least24weeks of follow-up were analyzed.Results: There were34males and19females in the53children. The median age was5months (0.133-49months), the median age for treatment was25months (4-170months).10children were with a family history of TSC, and2children were witha history of epilepsy.25children had carried out TSC gene detection, amongwhich4cases with TSC1mutation and21cases with TSC2mutation. Corticalnodules and subependymal nodules were common in the53children, whileSEGA seemed relatively rare. Multiple organ involvement could be seen inchildren diagnosed with TSC, heart and kidney were common, and eyes and otherorgans could also been seen involved. The enrolled children were given oralrapamycin, and improvement could be seen in most children, among whichchildren with infantile spasm often had a more obvious improvement (P<0.01).By the end of24week follow-up,14cases reached seizure free.14of the23cases with infantile spasms when enrolled were improved from hypsarrhythmia. Itshowed a certain effect of rapamycin in children with TSC and epilepsy. All theblood routine, urine routine and liver and kidney function were normal.Conclusion: The self-control study of treatment of rapamycin in children diagnosedwith tuberous sclerosis complex and epilepsy preliminary shows that rapamycin has acertain effect on seizures and good safety.