Volume 11, Issue 2, April 2025

  • Case Report

    A Rare Case of Adult-onset Niemann-Pick Disease Type C with PEX6 Mutation: Novel Genetic Insights

    Aditya Bishayee*, Sagar Basu, Soumesh Roy, Avas Chandra Ray

    Issue: Volume 11, Issue 2, April 2025
    Pages: 18-22
    Received: 10 June 2025
    Accepted: 26 June 2025
    Published: 19 July 2025
    DOI: 10.11648/j.ijcems.20251102.11
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    Abstract: Background: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative disorder. Adult-onset presentations are particularly uncommon and often misdiagnosed. Here, we report a rare case of NPC type C associated with a novel mutation in NPC1 and an additional mutation in the PEX6 gene, which has not been previously documented. ... Show More