Affiliation:
1. Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland
2. Research Unit of Health Sciences and Technology University of Oulu Oulu Finland
3. Department of Neurosurgery Oulu University Hospital Oulu Finland
4. Biocenter Oulu University of Oulu Oulu Finland
5. Department of Clinical Genetics Oulu University Hospital Oulu Finland
6. Research Unit of Clinical Medicine University of Oulu Oulu Finland
7. Clinic for Children and Adolescents Oulu University Hospital Oulu Finland
8. Department of Diagnostic Radiology Oulu University Hospital Oulu Finland
Abstract
AbstractAimTo 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.