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 .
- ventricular enlargement
- abnormal gyration patterns
- cerebral periventricular pseudocysts
- scimitar-like patella calcification
- hyperechoic kidneys
- may demonstrate hepatomegaly
Treatment and prognosis
There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life.
History and etymology
This condition is named after Hans Zellweger (1909-1990) a Swiss-American pediatrician .
- Chondrodysplasia punctata
- Chondrodyplasia punctata, rhizomeler Typ
- reduction or absence of functional peroxisomes