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

  • Nurani Widianti
  • Meta Herdiana Hanindita
  • Nur Aisiyah Widjaja Department of Child Health, Faculty of Medicine, Universitas Airlangga, Dr. Soetomo General Hospital, Surabaya
  • Roedi Irawan
Keywords: developmental regression, NBIA, PLAN, inherited metabolic diseases

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 regression for six months, and got worse until she could not do any activity and was followed by recurrent seizures. She had a sibling who had similar problems and symptoms and then died at five years of age. The head MRI revealed brain atrophy, the possibility of an early sign of metabolic disorder, and a white matter lesion at the globuspallidus bilateral that supports the encephalopathy metabolic view. The genetic test revealed a positive homozygous such as a pathogenic variant in the PLA2G6 gene, which confirmed the diagnosis. PLA2G6-Associated with Neurodegeneration (PLAN) should be considered as a diagnosis in children with developmental regression.

doi: https://doi.org/10.12669/pjms.39.1.6801

How to cite this: Widianti N, Hanindita MH, Widjaja NA, Irawan R. PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children. Pak J Med Sci. 2023;39(1):---------.  doi: https://doi.org/10.12669/pjms.39.1.6801

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published
2022-11-22
How to Cite
Widianti, N., Hanindita, M. H., Widjaja, N. A., & Irawan, R. (2022). PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children. Pakistan Journal of Medical Sciences, 39(1). https://doi.org/10.12669/pjms.39.1.6801