Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal lipid storage disorder with an estimated incidence of 1 in 120,000 live births. It presents a broad clinical spectrum, ranging from neonatal rapid fatal disease to chronic neurodegenerative disease in adults. Neurological symptoms vary by age of onset, including motor delays, gait problems, ataxia, and cataplexy. The hallmark sign is vertical supranuclear gaze palsy. The disease is autosomal recessive, caused by mutations in NPC1 (95% of cases) or NPC2 genes. The exact functions of these proteins are unclear, but they are involved in cholesterol trafficking. Diagnosis requires skin fibroblast testing with filipin to detect unesterified cholesterol accumulation in lysosomes. About 80% of cases show pronounced abnormalities, while the remainder have a "variant" phenotype. Genetic testing is essential for diagnosis and prenatal screening. NP-C is distinguished from other lipidoses, such as Niemann-Pick type B and Gaucher disease. The prognosis is closely related to the age of neurological onset. NP-C is a cellular cholesterol trafficking disorder, with gangliosides as the main stored lipids in the brain. The disease is heterogeneous, with various clinical forms, including perinatal, early infantile, late infantile, juvenile, and adult forms. The clinical presentation is highly variable, with some patients showing no systemic symptoms before neurological onset. The disease is often misdiagnosed, and early diagnosis is crucial. The primary treatment is miglustat, which is approved in several countries. The disease is associated with a wide range of symptoms, including ataxia, dysarthria, dysphagia, and cognitive decline. The exact pathogenesis is not fully understood, but it involves impaired cholesterol transport and accumulation in lysosomes. The NPC1 and NPC2 proteins are involved in cholesterol trafficking and may also play a role in lipid transport. Mutations in these genes lead to different clinical phenotypes, with some mutations associated with milder forms of the disease. Genetic counseling is essential for families with a history of NP-C, as it is an autosomal recessive disorder. Prenatal diagnosis is possible using molecular genetic analysis, but it requires identification of mutations in both alleles of the index case. The disease is often underdiagnosed, and early recognition is crucial for effective management.Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal lipid storage disorder with an estimated incidence of 1 in 120,000 live births. It presents a broad clinical spectrum, ranging from neonatal rapid fatal disease to chronic neurodegenerative disease in adults. Neurological symptoms vary by age of onset, including motor delays, gait problems, ataxia, and cataplexy. The hallmark sign is vertical supranuclear gaze palsy. The disease is autosomal recessive, caused by mutations in NPC1 (95% of cases) or NPC2 genes. The exact functions of these proteins are unclear, but they are involved in cholesterol trafficking. Diagnosis requires skin fibroblast testing with filipin to detect unesterified cholesterol accumulation in lysosomes. About 80% of cases show pronounced abnormalities, while the remainder have a "variant" phenotype. Genetic testing is essential for diagnosis and prenatal screening. NP-C is distinguished from other lipidoses, such as Niemann-Pick type B and Gaucher disease. The prognosis is closely related to the age of neurological onset. NP-C is a cellular cholesterol trafficking disorder, with gangliosides as the main stored lipids in the brain. The disease is heterogeneous, with various clinical forms, including perinatal, early infantile, late infantile, juvenile, and adult forms. The clinical presentation is highly variable, with some patients showing no systemic symptoms before neurological onset. The disease is often misdiagnosed, and early diagnosis is crucial. The primary treatment is miglustat, which is approved in several countries. The disease is associated with a wide range of symptoms, including ataxia, dysarthria, dysphagia, and cognitive decline. The exact pathogenesis is not fully understood, but it involves impaired cholesterol transport and accumulation in lysosomes. The NPC1 and NPC2 proteins are involved in cholesterol trafficking and may also play a role in lipid transport. Mutations in these genes lead to different clinical phenotypes, with some mutations associated with milder forms of the disease. Genetic counseling is essential for families with a history of NP-C, as it is an autosomal recessive disorder. Prenatal diagnosis is possible using molecular genetic analysis, but it requires identification of mutations in both alleles of the index case. The disease is often underdiagnosed, and early recognition is crucial for effective management.