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Neuroradiology

, Volume 44, Issue 6, pp 499–502 | Cite as

Diffusion-weighted MRI of maple syrup urine disease encephalopathy

  • F. Cavalleri
  • A. Berardi
  • A. Burlina
  • F. Ferrari
  • L. Mavilla
Paediatric Neuroradiology

Abstract

We 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.

Maple syrup urine disease Diffusion-weighted MRI Cytotoxic oedema Metabolic disorders 

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Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • F. Cavalleri
    • 1
  • A. Berardi
    • 2
  • A. Burlina
    • 3
  • F. Ferrari
    • 2
  • L. Mavilla
    • 1
  1. 1.Servizio di Neuroradiologia, Azienda Ospedaliera Policlinico, L.go del Pozzo 71, 41100 ModenaItaly
  2. 2.Servizio di Neonatologia, Azienda Ospedaliera Policlinico, ModenaItaly
  3. 3.Dipartimento di Pediatria, Azienda Ospedaliera, Università di Padova, PaduaItaly

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