Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports

Background and Objective: Niemann-Pick type C is a rare lysosomal storage disorder causing cholesterol intracellular transport deficiency. Typically found in children, it causes neurological deterioration and age-related symptoms. In this article, two cases of Niemann-Pick type C1 with cholestasis and another case with a compound heterozygous mutation that included Niemann-Pick type D are presented. Although neonatal diseases are the most common cause of early cholestasis, this report emphasizes the importance of considering storage disease in cholestasis. Case Report: A 34-day-old female baby born to a third-degree married couple at 38 weeks gestation presented with cholestatic jaundice. Whole-exome sequencing suggested an NPC1 gene mutation and Niemann-Pick type C. A 35-day-old female baby born at 39 weeks gestation presented with ecchymotic patches, decreased feed acceptance, greenish discoloration of the eyes, high-color urine, and firm hepatosplenomegaly. The child was worked up for conjugated hyperbilirubinemia and a liver biopsy in favor of Niemann-Pick disease. Whole exome sequencing showed an NPC1 gene heterozygous mutation, suggesting Niemann-Pick disease types C and D. Conclusion: Pediatricians should consider Niemann-Pick disease in neonates with persistent cholestasis.