Cerebrohepatorenal syndrome (Zellweger syndrome)

Case contributed by A.Prof Frank Gaillard

Presentation

Neonate with seizures.

Patient Data

Age: Neonate.

Germinolysis-pseudocyst formation: cysts are shown at the caudothalamic grooves within both lateral ventricles

  • myelination of the cerebellum and brainstem are 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 the internal capsule

Conclusion

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.

Case Discussion

Appearances are in keeping with the clinical suspicion of Zellweger syndrome.

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Case information

rID: 8346
Published: 24th Jan 2010
Last edited: 13th Aug 2019
Inclusion in quiz mode: Included

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