PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children

• Main Authors: Nurani Widianti, -, Nur Aisiyah Widjaja, -, Meta Herdiana Hanindita, -, Roedi Irawan, -
• Format: Article PeerReviewed
• Language: English; Indonesian; English
• Published: Professional Medical Publications
• Subjects: R5-920 Medicine (General)
• Online Access: https://repository.unair.ac.id/127365/1/01.%20PLA2G6.pdf; https://repository.unair.ac.id/127365/2/01.pdf; https://repository.unair.ac.id/127365/3/01.%20turnitin.pdf; https://repository.unair.ac.id/127365/; https://xjournals.com/collections/articles/Article?qt=EWFhyPlN0z/ZAdoz4wSKI6Mdrskcf4TNDRftjlRzp+ypbWlfM96Q2X2fjC7VokOk
• Institution: Universitas Airlangga

SUMMARY This report aimed to describe and review the clinical features, neuroimaging findings, and PLA2G6 mutations identified in a 34-month-old girl with regression of developmental milestones.A 34 months old girl came to Dr.Soetomo Hospital’s outpatient clinic, Surabaya, with a developmental re...