一例存活期较长的2型GM1神经节苷脂贮积症病例。

A case of type 2 Gm1-gangliosidosis with long survival.

作者信息

Kikuchi K, Minami R, Kudoh T, Nakao T, Tsugawa S

出版信息

Brain Dev. 1982;4(2):153-6. doi: 10.1016/s0387-7604(82)80009-0.

Abstract

An 11-year-old boy with type 2 GM1-gangliosidosis was presented, providing further evidence for the clinical and biochemical heterogeneity of the disease. The patient had several characteristics of type 2 GM1-gangliosidosis, but was different from so-called typical type 2 GM1-gangliosidosis from the point of view of survival and the degree of GM1-ganglioside accumulation. GM1-gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and the parents had the enzyme levels of heterozygotes. However, the amount of the brain GM1-ganglioside was accumulated to a less degree in comparison with that of typical type 2 GM1-gangliosidosis, though the activity of GM1-beta-galactosidase in the brain was deficient to the same degree as in the typical case.

摘要

本文报告了一名患有2型GM1神经节苷脂贮积症的11岁男孩，为该疾病的临床和生化异质性提供了进一步证据。该患者具有2型GM1神经节苷脂贮积症的几个特征，但从生存情况和GM1神经节苷脂蓄积程度来看，与所谓的典型2型GM1神经节苷脂贮积症有所不同。通过白细胞中β-半乳糖苷酶活性缺失诊断出GM1神经节苷脂贮积症，其父母酶水平为杂合子。然而，与典型2型GM1神经节苷脂贮积症相比，脑内GM1神经节苷脂的蓄积程度较低，尽管脑内GM1-β-半乳糖苷酶活性与典型病例一样缺乏。