关键词: 结节性硬化症；　癫痫；　心脏横纹肌瘤；　视网膜错构瘤

Abstract: Objective　To explore the clinical characteristics of tuberous sclerosis (TSC) in infants under 6 months of age. Method　The clinical data of 15 infants under 6 months diagnosed with TSC were retrospectively analyzed. Results　In 15 infants (6 boys and 9 girls) 13 infants visited for epilepsy, and 8 presented with infantile spasm. Two infants were treated for prenatal cardiac tumor and more than 3 hypomelanotic macules were found in 10 infants. Brain MRI showed all of the infants had subependymal nodules, and 13 of them also had cortical tubers. Echocardiography showed multiple cardiac rhabdomyomas in 8 infants. In 11 infants who was performed fundus examination, retinal hamartomas was found in 9 infants. In the 2 infants who had genetic tests, both of them had positive results. Conclusion　Epilepsy is the main visit reason for TSC infants under 6 months of age. Detailed physical examination, brain magnetic resonance imaging, echocardiography and fundus examination are important for early diagnosis of TSC.

Key words: 　nodular sclerosis;　epilepsy;　cardiac rhabdomyoma;　retinal hamartoma