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.
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| http://dx.doi.org/10.12669/pjms.39.1.6801 | DOI Listing |
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