Presentation
Neonate with seizures.
Patient Data
Age: Neonate.
From the case:
Cerebrohepatorenal syndrome (Zellweger syndrome)
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Germinolysis-pseudocyst formation: cysts are shown at the caudothalamic grooves within both lateral ventricles
From the case:
Cerebrohepatorenal syndrome (Zellweger syndrome)
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- 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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