Marwaha R K, Singh P, Trehan A
Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Indian J Pediatr. 2001 May;68(5):463-5. doi: 10.1007/BF02723030.
The brief communication describes a 2-year-old child who presented with delayed achievement and regression of milestones, seizures of multiple types, exaggerated response to sound, inability to see and bilateral cherry red spots. In addition to these typical manifestations of the late infantile variety of Tay-sachs disease, unilateral ptosis was present. The magnetic resonance imaging of brain revealed abnormalities consistent with an advanced stage of the disease.
这篇简短通讯描述了一名2岁儿童，其出现发育迟缓、里程碑倒退、多种类型的癫痫发作、对声音反应过度、失明以及双侧樱桃红斑。除了晚期婴儿型泰-萨克斯病的这些典型表现外，还存在单侧上睑下垂。脑部磁共振成像显示与疾病晚期相符的异常。
