Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.
Jaakko H OikarainenOula A KnuutinenSalla M KangasElisa J RahikkalaTytti M-L PokkaJukka S MoilanenReetta M HinttalaPäivi M VieiraJohanna M UusimaaMaria H Suo-PalosaariPublished in: Developmental medicine and child neurology (2024)
Symmetrical 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.
Keyphrases
- white matter
- multiple sclerosis
- genome wide
- resting state
- copy number
- magnetic resonance imaging
- contrast enhanced
- high resolution
- emergency department
- intensive care unit
- functional connectivity
- computed tomography
- cerebral ischemia
- magnetic resonance
- dna methylation
- case report
- physical activity
- brain injury
- young adults
- sleep quality
- early life