 Abstract nemenpyxidisease, NPC, is a rare neurovisceral atypical isosomal lipid storage disorder that affects approximately one in 120,000 live births. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. Neurological involvement is typically preceded by systemic signs such as cholestatic jaundice in the neonatal period or isolated splenor or hepatosplenomegaly in infancy or childhood. The first neurological symptoms vary with age of onset and may include delay in developmental motor milestones, gait problems, falls, clumsiness, cataplexy, school problems, ataxia, and psychiatric disturbances. The most characteristic sign is vertical super-nuclear gaze palsy. NPC is caused by mutations of either the NPC1 or NPC2 genes and is characterized as a cellular cholesterol-trafficking defect in the brain, where the prominently stored lipids are gangliocytes. Clinical examination should include comprehensive neurological and ophthalmological evaluations, and the primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perineuclear vesicles, lysosomes, after staining with filipin. Genotyping is useful for confirming the diagnosis and essential for future prenatal diagnosis. The differential diagnosis may include other lipidoses, idiopathic neonatal hepatitis, and... This article was offered by Fonia Marie T. We are article.tv, links in the description below.