小児期にてんかんを発症した結節性硬化症患者に対するエベロリムスの発作抑制効果

The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex

エベロリムスはmTOR阻害作用を有し，近年，結節性硬化症（TSC）に合併するてんかんへの効果が確認されている。今回，てんかん合併のTSC患者9例に対するエベロリムスの効果を調べた。患者は内服開始時に生後1カ月〜23歳で，平均5.4剤の抗てんかん薬に抵抗性を示した。主要な発作は焦点性発作6例，全般発作3例であった。6カ月以上のフォロー期間で発作消失は3例（33％），90％以上発作減少は2例（22％）と高い効果を示した。

Abstract

Everolimus is a mammalian target of rapamycin (mTOR) inhibitor that has cytoreductive effects on subependymal giant cell astrocytoma and renal angiomyolipoma in tuberous sclerosis complex (TSC). Recent studies have also shown its efficacy against refractory seizures in TSC. We investigated the efficacy of everolimus in nine patients with TSC, who were admitted to the TSC clinic in Seirei Hamamatsu General Hospital and who suffered from refractory seizures. At the start of treatment, patients ranged from 1 month to 23 years of age, and were refractory to a mean of 5.4 antiepileptic agents. Main seizures were focal in six patients and generalized in three patients. After 0.5 to 4.0 years (mean=2.4 years), three patients (33%) were seizure-free and two patients (22%) experienced ＞90% reduction in seizures. Everolimus may therefore be effective in the treatment of refractory seizures in TSC.

(Received February 20, 2019; Accepted April 2, 2019; Published June 1, 2019)