دوره 9، شماره 1 - ( 12-1401 )
جلد 9 شماره 1 : e17 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Bhanu Y, Kasula L R, Kotha R, Madireddy A. Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports. CJP 2023; 9 (1) :17-17
URL: http://caspianjp.ir/article-1-220-fa.html
URL: http://caspianjp.ir/article-1-220-fa.html
Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports. مجله کاسپین کودکان. 1401; 9 (1) :17-17
چکیده: (1385 مشاهده)
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.
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.
نوع مطالعه: گزارش مورد |
موضوع مقاله:
تخصصي
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
