青少年型泰-萨克斯病罕见病例。
Unusual case of Juvenile Tay-Sachs disease.
作者信息
Cheema Huma A, Waheed Nadia, Saeed Anjum
机构信息
Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
出版信息
BMJ Case Rep. 2019 Sep 12;12(9):e230140. doi: 10.1136/bcr-2019-230140.
Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.
泰-萨克斯病（TSD）是一种1型神经节苷脂沉积症（GM2），由己糖胺酶A缺乏引起，导致鞘脂代谢异常和前体在不同器官中沉积。它是一种以常染色体隐性方式遗传的进行性神经退行性疾病。神经细胞和视网膜神经节中GM2蓄积，导致神经功能逐渐丧失，并形成樱桃红斑，这是泰-萨克斯病的标志。我们报告了巴基斯坦首例青少年泰-萨克斯病病例，患儿的哥哥死亡时未被诊断出该病。
Zotero 插件