ArticleDevelopmental medicine and child neurology2025
Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.
Article in Developmental medicine and child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease.Neuropediatrics · 2026Article
- Neurodevelopmental disorders in children: the role of MRI in early detection and intervention planning.Frontiers in neuroscience · 2026Review
- The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.Italian journal of pediatrics · 2025Article
- Typical and atypical MRI patterns of rare brain disorders: The challenge of low numbers.Developmental medicine and child neurology · 2025Article
- Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.Developmental medicine and child neurology · 2025Article
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Authors and funding
10 authors.
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Abstract
aimTo describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.
methodIn this retrospective population-based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis.
resultsA total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (n = 49, 59%), brainstem signal abnormalities (n = 28, 34%), thinning of the corpus callosum (n = 30, 36%), delayed myelination (n = 11, 13%), and permanent hypomyelination (n = 9, 11%).
interpretationSymmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood-onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders.
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