Cerebrohepatorenal syndrome (Zellweger syndrome)

Case contributed by A.Prof Frank Gaillard



Case Discussion

Neonate with seizures.

  • myelination of the cerebellum and brainstem is within normal limits
  • ventricles are dysmorphic with
    • mild dilatation
    • parallel alignment
    • patent cavum septum pellucidum and vergae
  • corpus callosum is present and appears intact
  • polymicrogyria within the sylvian fissures, including the posterior margins of the insular cortex
  • hippocampi are somewhat dysmorphic
  • lack of the usual T2 hypointensity of myelination in the posterior limbs of internal capsule
  • germinolysis-pseudocyst formation: cysts are shown at the caudothalamic grooves within both lateral ventricles


Main abnormalities are dysmorphic ventricles with pseudocysts and the presence of cortical polymicroygyria in the sylvian fissures and insular cortex. In addition, there is lack of myelination in the posterior limbs of internal capsule.

Appearances would be entirely in keeping with the clinically suggested Zellweger syndrome.

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Case information

rID: 8346
Published: 24th Jan 2010
Last edited: 24th Nov 2015
Inclusion in quiz mode: Included

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