Udari Ruwanpathirana¹, Imalke Kankanarachchi², Rohan Wickramasinghe²
1- German Sri Lanka Friendship Hospital for Women, Sri Lanka
2- National Hospital, Galle, Sri Lanka
Abstract Body
Introduction: Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes, leading to lysosomal accumulation of cholesterol and glycosphingolipids. The disease exhibits marked phenotypic heterogeneity , with age-dependent presentations ranging from severe neonatal liver disease to progressive neurological deterioration in childhood.
Case presentation: A two-month-old male infant, born to third-degree consanguineous parents, presented with cholestatic jaundice from the second week of life. He was deeply icteric, affecting all mucocutaneous membranes, without features of obstructive jaundice. There were no signs of congenital infections, dysmorphism, or peripheral stigmata of chronic liver disease. Family history was significant for a sibling death at four months from suspected metabolic liver disease which was later genetically confirmed to be of Niemann pick type C. The infant had marked hepatosplenomegaly but normal growth, development, and neurological examination. Laboratory tests showed normal blood counts and liver synthetic function, elevated bilirubin, AST/ALT (10× normal), high triglycerides and cholesterol, and normal renal function and venous blood gas. Ultrasound excluded biliary atresia, and alphafetoprotein was markedly elevated. Close surveillance for liver failure and early neurodevelopmental therapy initiated
Conclusion: NPC is slowly progressive, with initial visceral involvement that may be transient, eventually leading to neurological impairments such as hypotonia and developmental delay . There is no curative treatment; management focuses on supportive are through a multidisciplinary team, including hepatology , neurology , nutrition, and physiotherapy , to optimize outcomes and quality of life. If progress to liver failure, liver transplantation maybe indicated.