Zellweger syndrome

Last revised by Arlene Campos on 5 Sep 2024

Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a multisystem metabolic abnormality primarily affecting the central nervous system, liver, and kidneys

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

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

  • scimitar-like patellar calcification 2

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

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

Cases and figures

  • Case 1
  • Case 2
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