Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder with an estimated incidence of 1 in 120,000 live births. The disease presents a wide clinical spectrum, ranging from neonatal rapidly fatal forms to adult-onset chronic neurodegenerative conditions. Neurological involvement, often preceded by systemic signs such as cholestatic jaundice or splenomegaly, defines the severity of the disease. Key neurological symptoms include vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures, and dystonia are also common features. NP-C is caused by mutations in either the *NPC1* (95% of cases) or *NPC2* genes, leading to a defect in cholesterol trafficking. Diagnosis is confirmed by the "filipin" test, which demonstrates cholesterol accumulation in perinuclear vesicles of living skin fibroblasts. Genetic testing is essential for prenatal diagnosis and carrier identification. Management is primarily symptomatic, with treatments available for seizures, cataplexy, dystonia, and other complications.Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder with an estimated incidence of 1 in 120,000 live births. The disease presents a wide clinical spectrum, ranging from neonatal rapidly fatal forms to adult-onset chronic neurodegenerative conditions. Neurological involvement, often preceded by systemic signs such as cholestatic jaundice or splenomegaly, defines the severity of the disease. Key neurological symptoms include vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures, and dystonia are also common features. NP-C is caused by mutations in either the *NPC1* (95% of cases) or *NPC2* genes, leading to a defect in cholesterol trafficking. Diagnosis is confirmed by the "filipin" test, which demonstrates cholesterol accumulation in perinuclear vesicles of living skin fibroblasts. Genetic testing is essential for prenatal diagnosis and carrier identification. Management is primarily symptomatic, with treatments available for seizures, cataplexy, dystonia, and other complications.