尼曼皮克氏病(NPD)是一种常染色体隐性遗传综合征,患者各种器官中累积鞘磷脂和其他次级脂类,A型患者在生后即有肝脾肿大。未满一周岁患者即出现精神和发育迟缓,失明和反复感染,通常在三岁前死亡,许多患者的视网膜黄斑区上有一个樱桃红斑点。在所有的组织检查中,包括白细胞,培养的皮肤成纤维细胞,肝,脾和脑中 Niemann-Pick disease (NPD) is an autosomal recessive syndrome that accumulates sphingomyelin and other secondary lipids in various organs. Type A patients have hepatosplenomegaly after birth. People under one year of age experience mental and developmental delays, blindness and recurrent infections, usually before the age of three and many have a cherry erythema on the macular area of ​​the retina. In all tissue tests, including leukocytes, cultured dermal fibroblasts, liver, spleen and brain