桑德霍夫病（II型GM2神经节苷脂贮积症）。1例病例的临床、生化及超微结构研究。

Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.

作者信息

Pallini R, Berardi R, Cioni M, d'Ettorre M, De Crecchio G, Gerli R, Minervino M, Sammartino A, Federico A

机构信息

Instituto di Clinica Oculistica, II Facoltà di Medicina e Chirurgia, Universita Degli Studi Di Napoli, Italy.

出版信息

Metab Pediatr Syst Ophthalmol (1985). 1985;8(2-3):49-52.

PMID:2967418

Abstract

A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found.

摘要

报告了一例GM2神经节苷脂沉积症：通过临床表现显示黄斑樱桃红斑和伴有癫痫的进行性神经症状学、结膜成纤维细胞中大量空泡（“斑马小体”）的电子显微镜观察以及白细胞中总己糖胺酶活性缺失做出诊断。还发现尿寡糖异常增加。