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尼-皮二氏病(Niemann-Pick disease)是鞘髓磷脂酶缺乏所致的脂质代谢异常疾病。可分为以下几种表型:Ⅰ型,见于婴幼儿,有严重的神经系统异常,往往夭折;Ⅱ型,患者年龄较大,神径系统及智力发育正常;Ⅲ、Ⅳ、Ⅴ型常合并存在不易完全区分。作者报道的黄斑晕轮综合征(macular halo syndrome)可能是Ⅱ型的变异,其主要特征是黄斑部环状结晶样混浊,无视力损害,肝、脾、骨髓的组织细胞内充满糖脂以及高脂血症。
Niemann-Pick disease is a disorder of lipid metabolism caused by a myelin phospholipase deficiency. Type I, seen in infants and young children, have severe neurological abnormalities, often premature death; Type II, older patients, the system of the paranoid and mental development is normal; type III, IV, V often combined There is not easy to completely distinguish. The authors report that macular halo syndrome may be a type II variant characterized by macular ring-like crystal opacities with no impairment of vision. Tissue cells of the liver, spleen and bone marrow are filled with glycolipids and are high Lipidosis.