Maple Syrup Urine Disease: assessing the correlation between MRI findings and clinical outcomes

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Abstract Introduction Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder characterized by symptoms that typically emerge within the first week of life, such as poor feeding and lethargy. This study aimed to analyze the clinical outcomes in relation to specific MRI findings associated with MSUD. Methods This retrospective cross-sectional study assessed long-term neurological outcomes in MSUD patients over a seven-year period. MRI findings were documented at baseline and compared with clinical outcomes. Results A total of 24 patients with MSUD were identified. Among these patients, 54.2% were female, with an average symptom onset age of 1.6 years. The classification revealed 70.8% as classic MSUD, 16.7% as intermediate, and 12.5% as intermittent. Common symptoms included weakness (79.2%), seizures (66.7%), and developmental delays (41.7%). MRI findings indicated significant involvement of the cerebellum and supratentorial regions, with a mortality rate of 62.5%. Common MRI findings in these patients include cerebellar changes (95.8%), supratentorial involvement (91.7%), corticospinal tract alterations (83.3%), along with changes in the centrum semiovale, basal ganglia (BG), and thalamus. Although no statistically significant correlations were found between MRI findings and amino acid levels with clinical outcomes, the data suggested that BG involvement might be associated with a lower incidence of seizures. Conclusion The results of this small scale cohort suggest that MRI findings are not correlated with clinical outcomes in pediatric MSUD cases.