Background: Leukodystrophies in pediatric populations pose significant diagnostic challenges due to their heterogeneous presentation and diverse underlying etiologies. Magnetic resonance spectroscopy (MRS) and diffusion-weighted imaging (DWI) have emerged as promising tools for enhancing diagnostic accuracy in such cases. This study aimed to assess the added diagnostic value of MRS and DWI in pediatric leukodystrophies.
Methods: A retrospective cohort of 40 pediatric patients displaying clinical symptoms suggestive of leukodystrophies underwent comprehensive evaluations, including clinical assessments and dedicated MRI studies incorporating MRS and DWI. Radiological data obtained from MRI scans were correlated with clinical diagnoses and laboratory findings to identify characteristic patterns associated with different types of leukodystrophies.
Results: The mean age of the studied patients was 3.1 years (±0.89), with a distribution of 45% males and 55% females. Types of leukodystrophies included Canavan disease (20%), Leigh disease (40%), metachromatic leukodystrophy (25%), and adrenoleukodystrophy (15%). In patients with Canavan disease, the NAA/Cr ratio ranged from 2.3 to 3.2 (mean ± SD: 2.8 ± 0.34), while in Leigh disease, it ranged from 1.1 to 1.5 (mean ± SD: 1.3 ± 0.14). Similarly, Cho/Cr ratios varied across different types of leukodystrophies, with mean values ranging from 0.9 to 2.5. All patients with Canavan disease, Leigh disease, metachromatic leukodystrophy and adrenoleukodystrophy exhibited positive lactate doublet. DWI revealed diffusion restriction in 22.5% of patients.
Conclusions: The integration of MRS and DWI into diagnostic protocols for pediatric leukodystrophies enhances our ability to characterize metabolic and structural abnormalities associated with different disease entities.