Niemann-Pick disease type C （NPC） is a rare autosomal recessive lysosomal storage disorder that mainly involves the nervous/mental system and visceral organs， with diverse clinical manifestations， age of onset， and symptoms. There is a lack of specific clinical manifestations， which often leads to misdiagnosis or missed diagnosis. Symptoms of the nervous system gradually aggravate with disease progression， which may cause disability or even death in severe cases. Although the advances in current medical techniques have greatly improved the clinical diagnosis， treatment， and long-term disease management of NPC， there are still challenges and a lack of unified criteria for consensus for diagnosis and treatment. To address these clinical challenges and promote the standardization of NPC diagnosis and treatment in China， a group of experts conducted a comprehensive review of the latest guidelines， consensus statements， and research findings of clinical cohort studies in China and globally and discussed and developed Chinese expert consensus on diagnosis and treatment of Niemann-Pick disease type C with reference to the clinical experience of group members. Guided by related clinical issues， the consensus introduces the definition， pathogenesis， diagnosis process， treatment measures， and genetic counseling regimens of NPC， proposes the criteria for disease staging， and incorporates the treatment and management recommendations for patients with different clinical manifestations， in order to help clinicians with the effective management of NPC patients， improve the quality of life and prognosis of patients， and provide an important reference for clinical practice. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 51-60］