Brain MRI Findings in Pediatric Genetic Disorders with White Matter Abnormalities
Author Information
Author(s): Oikarainen Jaakko H., Knuutinen Oula A., Kangas Salla M., Rahikkala Elisa J., Pokka Tytti M.-L., Moilanen Jukka S., Hinttala Reetta M., Vieira Päivi M., Uusimaa Johanna M., Suo-Palosaari Maria H.
Primary Institution: Oulu University Hospital, Oulu, Finland
Hypothesis
To describe the specific brain magnetic resonance imaging (MRI) patterns of the pediatric genetic disorders associated with white matter abnormalities in Northern Finland.
Conclusion
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.
Supporting Evidence
- 87% of the children had abnormal brain MRI findings.
- Common findings included cerebral white matter abnormalities and thinning of the corpus callosum.
- The study included patients with 52 different diseases.
- Brain MRI was performed at a median age of 22 months.
- Delayed myelination and permanent hypomyelination were observed in some patients.
- X-linked adrenoleukodystrophy was the most common diagnosis in the cohort.
- Unique prevalence of genetic white matter disorders was noted in Northern Finland.
- Improved diagnostics with genetic testing and modern MRI techniques were emphasized.
Takeaway
Doctors looked at brain scans of kids with certain genetic disorders to find patterns that could help them diagnose these rare diseases better.
Methodology
This was a retrospective population-based longitudinal study assessing brain MRI scans from 1990 to 2019 at Oulu University Hospital, Finland.
Limitations
The study had a relatively small sample size and some patients were excluded due to lack of MRI data.
Participant Demographics
The cohort included 83 patients, with 48 males and 35 females, all under 18 years of age at diagnosis.
Digital Object Identifier (DOI)
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