LA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children

• Main Authors: Widianti, Nurani, Herdiana Hanindita, Meta, Aisiyah Widjaja, Nur, Irawan, Roedi
• Format: Article PeerReviewed
• Language: English; English; English; English
• Published: Professional Medical Publications 2023
• Subjects: R5-920 Medicine (General)
• Online Access: https://repository.unair.ac.id/128453/1/Nur%20Aisiyah%20Widjaja_Sri%20Lanka%20Journal%20of%20Child%20Health%202021.pdf; https://repository.unair.ac.id/128453/2/SLJCH_all.pdf; https://repository.unair.ac.id/128453/3/pla2g6-aSSOCIATED.pdf; https://repository.unair.ac.id/128453/4/karil%209.pdf; https://repository.unair.ac.id/128453/; https://www.pjms.org.pk/index.php/pjms/article/view/6801/1602
• Institution: Universitas Airlangga

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 regression...