Zellweger syndrome

Last revised by Dr Daniel J Bell on 25 Aug 2019

Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys. 

The condition typically presents in neonates with poor feeding and/or seizures. 

It results from an abnormality in peroxisomal metabolism. It is the most severe of the peroxisomal disorders 6.

  • scimitar-like patella calcification 2

There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life.

This condition is named after Hans Zellweger (1909-1990) a Swiss-American pediatrician 7,10.

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Cases and figures

  • Case 1
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  • Case 2
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