雷帕霉素治疗结节性硬化症合并婴儿痉挛症一例报告并文献复习

Rapamycin in tuberous sclerosis patient with infantile spasm： a case report and literature review

目的探讨雷帕霉素治疗结节性硬化症合并婴儿痉挛症的临床疗效。方法对解放军总医院儿童医学中心2011年6月收治的1例结节性硬化症合并婴儿痉挛症患儿应用雷帕霉素治疗前后的临床表现、辅助检查方法、治疗结果等进行回顾性分析。结果患儿有明显的皮肤损害，主要表现为色素脱失斑，同时合并婴儿痉挛症，头颅MRI及CT均有异常改变。患儿应用雷帕霉素治疗3个月后可见色素脱失减轻，痉挛发作较前明显减少，头颅MRI显示室管膜下结节较前减小，脑电图较前改善，智能发育进步，且治疗过程中未见明碾不良反应。结论应用雷帕霉素治疗结节性硬化症合并婴儿痉挛症有显著疗效．安全性好。

Objective To analyze the clinical features of tuberous sclerosis （TS） patient with infantile spasm and investigate its treatment efficacy with rapamycin. Methods The clinical manifestations of a tuberous sclerosis patient with infantile spasm before and after the treatment with rapamycin were retrospectively analyzed; and the related literature was reviewed. Results Dermatological abnormalities were evident in the child and mainly shown as hypomelanotic macules. His neurological abnormalities included infantile spasm and backward psychomotor development. Head MRI and CT had abnormal changes. Treatment with rapamycin 3 months later disclosed improvement in many ways： the convulsion seizure of the patient decreased apparently, and MRI showed decreased subependymal tuber size; meanwhile, the intellectual development of the patient improved obviously, and there was no adverse reaction. Conclusion Rapamycin, enjoying good effect, would be a new and safety method to treat TS patients with infantile spasm.