en تخصصي Special گزارش مورد case report <div style="text-align: justify;"><span style="font-size:14px;"><span style="font-family:Times New Roman;"><span style="line-height:14.0pt"><b><span style="color:#24a3a0">Background and Objective:</span></b> <span lang="EN-IN">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</span>.</span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0"><span style="letter-spacing:.2pt">Case Report:</span></span></b> <span lang="EN-IN"><span style="letter-spacing:.2pt">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</span></span><span style="letter-spacing:.2pt">.</span></span><br> <span style="line-height:15.0pt"><b><span style="color:#24a3a0">Conclusion:</span></b> <span lang="EN-IN">Pediatricians should consider Niemann-Pick disease in neonates with persistent cholestasis</span>.</span></span></span></div> Cholestasis Lipid Storage Disorders, Neonate, Niemann-Pick Disease 17 17 http://caspianjp.ir/browse.php?a_code=A-10-273-3&slc_lang=en&sid=1 Yaseena Bhanu byaseena@gmail.com 10031947532846004704 0009-0004-8175-7861 No Niloufer Hospital, Hyderabad, India. Linga Reddy Kasula drklreddy1966@gmail.com 10031947532846004705 10031947532846004705 No Niloufer Hospital, Hyderabad, India. Rakesh Kotha dr.rakeshkotha@gmail.com 10031947532846004706 10031947532846004706 Yes Niloufer Hospital, Hyderabad, India. Alimelu Madireddy asvnrao@yahoo.com 10031947532846004707 10031947532846004707 No Niloufer Hospital, Hyderabad, India.