ISSN 1305-3825 | E-ISSN 1305-3612
1 Department of Radiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai,China  
2 Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai,China  
Diagn Interv Radiol 2017; 23: -


Purpose: The aim of our study was to evaluate the magnetic resonance imaging (MRI) and clinical features of Maple Syrup Urine Disease (MSUD).


Methods: This retrospective study consisted of ten MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and brain injury areas on MRI were retrospective reviewed. Phenotype was classified as classic form, intermittent form, and thiamine-responsive form. Genotype was classified as BCKDHB mutation, BCKDHA mutation, and DBT mutation.


Results: Of the ten cases, six patients (60%) were the classic form with BCKDHB mutation, three patients (30%) were the intermittent form(two with BCKDHA mutations and one with DBT mutation), and one patient (10%) was thiamine-responsive form with DBT mutation. On DWI, nine of the ten cases presented restricted diffusion in myelinated areas, and one intermittent form with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases, the cerebellum, mesencephalon, pons and supratentorial area in five cases, and the thalamus in four cases respectively. The intermittent form involved the cerebellum, pons and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area.


Conclusion: Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and an extensive brain injury on MRI.

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