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Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86

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Abstract

Purpose

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC.

Methods

Eighty-six children with TSC were enrolled into this retrospective study. The clinical features of seven children treated with oral rapamycin were presented in detail.

Results

The most common complaint of administration was convulsion in 77 children (89.5 %). Hypopigmented skin lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and West syndrome were detected (n = 83, 96.5 %; n = 47, 54.7 %; n = 36, 41.9 %; n = 27, 31.4 %; n = 18, 20.9 %; and n = 13, 15.1 %, respectively). Subependymal nodules were the most frequent finding in cranial imaging followed by cortical tubers and subependymal giant cell astrocytomas (n = 75, 87.2 %; n = 71, 82.6 %; and n = 8, 9.3 %, respectively). Of the seven patients treated with rapamycin, the lesions of six children with facial adenoma sebaceum showed regression in various degrees. The frequency of convulsions decreased in five patients with resistant epilepsy within the first 6 months of the treatment, and complete control of convulsion for all patients was achieved in the second 6 months.

Conclusion

This is the first study that showed that rapamycin is an effective agent for controlling epilepsy without any significant side effect in children with TSC. Rapamycin seems to be effective after 6 months of therapy, and we recommend tapering the dosage after successful management of epilepsy.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, 38039, Kayseri, Turkey

    Mehmet Canpolat, Huseyin Per, Hakan Gumus & Sefer Kumandas

  2. Department of Radiology, Division of Pediatric Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey

    Ali Yikilmaz

  3. Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, 38039, Talas, Kayseri, Turkey

    Ekrem Unal & Turkan Patiroglu

  4. Dermatology Clinic, Kayseri Education and Research Hospital, Kayseri, Turkey

    Levent Cinar

  5. Department of Neurosurgery, Faculty of Medicine, Erciyes University, Kayseri, Turkey

    Ali Kurtsoy

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  1. Mehmet Canpolat
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  2. Huseyin Per
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Correspondence to Huseyin Per or Ekrem Unal.

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Canpolat, M., Per, H., Gumus, H. et al. Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86. Childs Nerv Syst 30, 227–240 (2014). https://doi.org/10.1007/s00381-013-2185-6

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  • DOI: https://doi.org/10.1007/s00381-013-2185-6

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