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Cml—神经节苷脂病为一遗传病,其特征为婴儿时的进行性精神运动性衰退,黄斑樱桃红斑点,承霤状外貌和普遍的β-半乳糖苷酶缺乏及神经节苷脂沉积。婴儿晚期或青年的Cml-神经节苷脂病的临床表现为无黄斑樱桃红斑点或承霤状变化。最近有几例成人患有黄斑樱桃红斑点,小脑共济失调,肌阵挛,轻度承霤状特征和各组织缺乏β-半乳糖苷酶的报告。这些病例主要的生化异常还不清楚。曾设想他们代表Gml—神经节苷脂病的变异型。现在报告一例类似病例并有尸检的生化检查。病例报告:患者日本男性,在婴儿及儿童时精神运动性发育十分正常。从8岁时开始常有鼻衄,15岁时感到视力障碍。16岁时眼科检查发现
Cml-ganglioside disease is an inherited disease characterized by progressive psychomotor decline in infants, macular cherry erythema, astrogliosis-like appearance and the general lack of beta-galactosidase and ganglioside deposition . The clinical manifestations of Cml-gangliosideosis in late infants or young adults are macular cherry erythema spots or sliver-like changes. Several adults recently reported erythematosus erythematosus, cerebellar ataxia, myoclonus, mildly slippage-like features, and lack of beta-galactosidase in various tissues. The major biochemical abnormalities in these cases are unclear. It has been assumed that they represent variants of Gml-ganglioside disease. A biochemical examination of a similar case and an autopsy is now reported. Case Report: Japanese male patients, the development of mental motility is very normal in infants and children. From the age of 8, it often begins to have epistaxis, and at the age of 15, it is visually impaired. Eye examination at age 16 found