Zellweger syndrome

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.

Inborn errors of metabolism

Article information

rID: 9565
Section: Syndromes
Synonyms or Alternate Spellings:
  • Zellweger syndrome
  • Zellweger's syndrome
  • Zellweger syndrome (ZS)
  • Cerebrohepatorenal syndrome
  • Cerebro-hepato-renal syndrome

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Cases and figures

  • Case 1
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  • Case 2
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