Abstract： Niemann-Pick disease type C（NPC）is an autosomal recessive genetic disorder caused by mutations in either the NPC1 or NPC2 gene.NPC has an estimated incidence of 1～9：100 000.Mutations in NPC1/NPC2 genes lead to impaired cellular cholesterol trafficking and result in the accumulation of cholesterol and other lipids in the lysosomes.There are significant differences in the age of onset and clinical manifestations of NPC.The age of onset and clinical manifestations of nervous system involvement determine the severity of the disease and the patient's prognosis.Biomarker screening，genetic testing，and Filipin staining of skin fibroblasts help to diagnose NPC.The treatment of NPC mainly focuses on supportive therapy.Miglustat may delay the progression of neurological symptoms.By summarizing the research progress of NPC in epidemiology，pathogenesis，clinical manifestations，diagnosis，differential diagnosis，treatment，prognosis，this review will help clinicians improve their understanding，diagnosis and treatment of NPC.