부산대학교 도서관

Background: Leukodystrophies are rare genetically determined disorders affecting the process of myelination of the central nervous system that primarily occur in the pediatric age group. These disorders are associated with significant morbidity and mortality. Detailed clinical evaluation, neuroimaging, biochemical studies, and genetic analysis have a pivotal role in their evaluation. Aim: The aim of this study is to assess the spectrum and distinctive magnetic resonance imaging (MRI) patterns of various pediatric leukodystrophies from North India. Materials and Methods: This prospective observational study was carried over a period of 1 year in a tertiary care center in North India. All children with suspected leukodystrophies referred to the Department of Radiology for MRI were included in the study. The findings were recorded in detail and a probable diagnosis of the type of leukodystrophy was made. Biochemical evaluation was performed wherever possible and correlated with MRI diagnosis. Results: Thirty patients formed the material of the study with an age range of 2.5 months to 17 years. Developmental delay was the commonest presenting complaint (66.67%) followed by abnormal muscle tone and gait disturbances. Different subtypes of leukodystrophies were seen in our study with metachromatic leukodystrophy being the commonest one (30%). Magnetic resonance spectroscopy was found to be a promising sequence in certain leukodystrophies. Conclusions: Varied spectrum of pediatric leukodystrophies was observed in North India. MRI is an accurate modality in determining the presence and assessing the severity of abnormalities in patients with leukodystrophies. [ABSTRACT FROM AUTHOR]