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
Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.
Research Unit of Health Sciences and Technology, University of Oulu, Oulu, Finland.
Dev Med Child Neurol. 2025 Feb;67(2):186-194. doi: 10.1111/dmcn.16036. Epub 2024 Jul 30.
To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.
In 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.
A 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%).
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.
描述芬兰北部与白质异常相关的儿童遗传性疾病的特定脑磁共振成像（MRI）模式。
在这项基于人群的回顾性纵向研究中，对1990年至2019年期间在芬兰奥卢大学医院积累的脑部MRI扫描进行了评估。纳入标准定义为脑白质营养不良或具有明显白质异常但不符合脑白质营养不良标准的遗传性疾病、至少一次脑部MRI检查以及诊断时年龄在18岁以下。
共发现83例患者（48例男性，35例女性）患有52种不同疾病。脑部MRI检查时的中位年龄为22个月（四分位间距[IQR]=46个月）。在72名（87%）儿童中，脑部MRI显示有异常发现，包括脑白质异常（n=49，59%）、脑干信号异常（n=28，34%）、胼胝体变薄（n=30，36%）、髓鞘形成延迟（n=11，13%）和永久性髓鞘形成不足（n=9，11%）。
当临床症状相符时，脑部MRI的对称和双侧白质信号模式应引起对遗传性疾病的怀疑。本研究阐明了芬兰北部人群中儿童期起病的遗传性疾病的脑成像模式，并提高了罕见遗传性疾病的诊断准确性。
