Dirk Klee MD, Presenter: Nothing to Disclose

Eva Simon MD, Abstract Co-Author: Nothing to Disclose

Hans-Jörg Wittsack, Abstract Co-Author: Nothing to Disclose

Udo Wendel, Abstract Co-Author: Nothing to Disclose

Ulrich Moedder MD, Abstract Co-Author: Nothing to Disclose

Mathias Georg Ludwig Cohnen MD, Abstract Co-Author: Nothing to Disclose

Maple syrup urine disease (MSUD) is associated with increased branched-chain aminoacids (BCAA), the ketoacids (BCKA) and acute or chronic encephalopathy. Treatment reduces BCAA and BCKA to prevent or minimize brain dysfunction.

We investigated 9 patients (mean age 21.5 years, ± s 5.1) with MSUD and 9 healthy controls (mean age years 23.1, ± s 4.3) with cerebral MRI (1.5T, Magnetom Vision, Siemens Medical Solutions, Germany). MSUD patients suffered from chronic encephalopathy, control laboratory data were all within normal limits. The DWI-trace maps and the ADC-maps were analyzed in 10 regions of interest (ROI) bilaterally: centrum semiovale, ventral, occipital and temporal white matter, dorsal limb of internal capsule, globus pallidus, thalamus, crus cerebri, pons and white and grey matter of cerebellum.

ADC: Significant decreased ADC values (p<0.05) in comparison with the values of the control group are shown only in the ventral and occipital white matter. DWI-trace: Significant increased values (p<0.05) in comparison with our control group are shown in the centrum semiovale, ventral, occipital and temporal white matter, crus cerebri, pons and white matter of the cerebellum.

Despite normal laboratory data, patients with MSUD affected by chronic encephalopathy show significant changes in diffusion weighted imaging. The alterations may hint at structural changes of the white matter with alteration of proton diffusion only in the ventral and occipital white matter.

Diffusion weighted imaging may use as sensitive method for the detection of structural cerebral changes in patients with MSUD and chronic encephalopathy.

Klee, D, Simon, E, Wittsack, H, Wendel, U, Moedder, U, Cohnen, M, Diffusion-weighted Imaging in Patients with Maple Syrup Urine Disease.  Radiological Society of North America 2006 Scientific Assembly and Annual Meeting, November 26 - December 1, 2006 ,Chicago IL. http://archive.rsna.org/2006/4441381.html