以视网膜错构瘤为首发特征的早产儿结节性硬化症1例

Tuberous sclerosis complex presenting as retinal hamartomas in a preterm infant:A case report

结节性硬化症(tuberous sclerosis complex,TSC)是一种累及多系统的常染色体显性遗传病,早期呈单一表现,容易漏诊、误诊,以眼部症状为首发特征的新生儿期病例少有报道。本文报告1例早产男婴,出生后1 d眼底筛查发现右眼视网膜散在多个灰白色半透明隆起灶及脱色素斑,回溯胎儿期超声心动图异常高度怀疑TSC,进一步行头颅MRI检查及家族基因检测,在新生儿期明确了这一诊断。

Tuberous sclerosis complex is a multisystemic disease with an autosomal dominant inheritance pattern.Missed diagnosis and misdiagnosis are common for patients with single manifestation in the early stage.There are few documented neonatal cases with ocular symptoms as primary presentation.Here we report a newborn boy presented with retinal hamartoma,retinal achromic patch,fetal cardiac rhabdomyoma and subependymal nodules.Subsequent genetic tests confirm a diagnosis of TSC.