• Neuroradiology · Jun 2002

    Case Reports

    Diffusion-weighted MRI of maple syrup urine disease encephalopathy.

    • F Cavalleri, A Berardi, A B Burlina, F Ferrari, and L Mavilla.
    • Servizio di Neuroradiologia, Azienda Ospedaliera Policlinico, L.go del Pozzo 71, 41100 Modena, Italy. fcavalleri@hotmail.com
    • Neuroradiology. 2002 Jun 1;44(6):499-502.

    AbstractWe report the case of a newborn child with maple syrup urine disease (MSUD), diagnosed at 10 days of life. Diffusion-weighted echoplanar MRI showed marked hyperintensity of the cerebellar white matter, the brainstem, the cerebral peduncles, the thalami, the dorsal limb of the internal capsule and the centrum semiovale, while conventional dual-echo sequence evidenced only a weak diffuse T2 hyperintensity in the cerebellar white matter and in the dorsal brainstem. The apparent diffusion coefficient (ADC) of these regions was markedly (>80%) decreased. Therefore, in agreement with current hypotheses on MSUD pathogenesis, MSUD oedema proves to be a cytotoxic oedema. Diffusion-weighted MRI may be a valuable tool, more sensitive than conventional spin-echo techniques, to assess the extent and progression of cytotoxicity in MSUD, as well as the effectiveness of the therapeutic interventions.

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