Volume 9 -
CJP 2023, 9 - : e17 |
Back to browse issues page
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
URL: http://caspianjp.ir/article-1-220-en.html
URL: http://caspianjp.ir/article-1-220-en.html
Niloufer Hospital, Hyderabad, India. , dr.rakeshkotha@gmail.com
Abstract: (743 Views)
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.
Type of Study: case report |
Subject:
Special
Send email to the article author
| Rights and Permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
