尼曼—匹克氏病(Niemann—Pick disease)是常染色体隐性遗传病。由于先天性神经鞘磷酯酶缺乏,造成神经鞘磷酯代谢异常,而蓄积于脑和内脏器官,致脑神经元肿胀和髓鞘脱矢,肝、脾、骨髓、淋巴结细胞内脂质大量沉积,而引起中枢神经系统退行性变及肝、脾肿大等,本病多见于犹太人,所以国内病例甚少,我科曾遇到一例,报告如下: 病例介绍:患者、男,13岁、汉族。 Niemann-Pick disease is an autosomal recessive disease. As a result of congenital deficiency of sphingosinephosphatase, it causes abnormal metabolism of sphingosine, accumulating in the brain and internal organs, resulting in swelling of the brain neurons and demyelination of the neurons, massive deposition of lipids in the liver, spleen, bone marrow and lymph node cells , Causing degeneration of the central nervous system and liver, splenomegaly, etc., the disease more common in Jews, so few cases in our country, our department has encountered a case, the report is as follows: Case Description: Patient, male, 13 years old, Han nationality .