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Related Experiment Videos

Walker-Warburg syndrome: diffusion MR imaging.

R N Sener1

  • 1Department of Radiology, Ege University Hospital, Bornova, Izmir 35100, Turkey. rnsener@med.ege.edu.tr

Journal of Neuroradiology = Journal De Neuroradiologie
|September 2, 2005
PubMed
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Diffusion MRI in the postmortem brain: case report.

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Walker-Warburg syndrome in an infant showed a pontomesencephalic kink and prominent hypomyelination on MRI. Diffusion imaging revealed elevated apparent diffusion coefficient values in the white matter, indicating abnormal myelination.

Area of Science:

  • Neuroimaging
  • Pediatric Neurology
  • Developmental Neuroscience

Background:

  • Walker-Warburg syndrome is a severe congenital disorder.
  • It affects brain development, causing lissencephaly and other malformations.
  • Early diagnosis is crucial for management.

Observation:

  • A 5-month-old boy presented with clinical features suggestive of Walker-Warburg syndrome.
  • Cerebral magnetic resonance (MR) imaging revealed characteristic pontomesencephalic kink, collicular fusion, hydrocephalus, callosal dysgenesis, cobblestone lissencephaly, cerebellar cysts, pontine and cerebellar hypoplasia, and subretinal hemorrhages.
  • Diffusion MR imaging demonstrated elevated apparent diffusion coefficient (ADC) values in the cerebral white matter.

Findings:

  • The elevated ADC values (1.82–2.45 x 10(-3) mm2/s) in the white matter correlated with prominent hypomyelination.

Related Experiment Videos

  • ADC values in the lissencephalic cortex (0.95–0.97 x 10(-3) mm2/s), hypoplastic cerebellum, and hypoplastic pons were within normal limits.
  • MR imaging findings are key to diagnosing Walker-Warburg syndrome and assessing white matter abnormalities.

    • Implications:

    • Diffusion imaging, particularly ADC mapping, can quantitatively assess myelination status in infants with congenital brain malformations.
    • This technique may aid in understanding the pathophysiology of Walker-Warburg syndrome and other white matter disorders.
    • Accurate diagnosis through advanced neuroimaging is vital for prognosis and potential therapeutic strategies.