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.