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.
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Epidemiology
The condition typically presents in neonates with poor feeding and/or seizures.
Pathology
It results from an abnormality in peroxisomal metabolism. It is the most severe of the peroxisomal disorders 6.
Radiographic features
CNS
MRI
- ventricular enlargement
- abnormal gyration patterns 3
- pachygyria: especially medial gyri around perirolandic regions
- polymicrogyria: laterally
- cerebral periventricular pseudocysts 3
Musculoskeletal
Plain radiograph
- scimitar-like patella calcification 2
Abdominal
Antenatal ultrasound
- 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 7,10.
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