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

VernacularTitle: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
Author: Xiao-Yan LI ¹ ; Jing WANG ; Xiu-Yu SHI ; Li-Ping ZOU
Author Information

1. 解放军总医院
Keywords: Rapamycin; Tuberous sclerosis; Infantile spasm
From: Chinese Journal of Neuromedicine 2012;11(5):508-511
CountryChina
Language:Chinese
Abstract: 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 evidcnt 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.