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

• Main Authors: Nurani Widianti, -, Meta Herdiana Hanindita, -, Nur Aisiyah Widjaja, Nur, Roedi Irawan, -
• Format: Article PeerReviewed
• Language: English; Indonesian; English; English
• Published: Professional Medical Publications
• Subjects: R5-920 Medicine (General)
• Online Access: https://repository.unair.ac.id/128482/1/8%20artikel.pdf; https://repository.unair.ac.id/128482/2/Karil%208.pdf; https://repository.unair.ac.id/128482/3/pla2g6-aSSOCIATED_8.pdf; https://repository.unair.ac.id/128482/4/8%20korespondensi.pdf; https://repository.unair.ac.id/128482/; https://pjms.org.pk/index.php/pjms/article/view/6801; https://doi.org/10.12669/pjms.39.1.6801
• Institution: Universitas Airlangga

Abstract 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 r...