Zellweger-Syndrom

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.

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 .

Radiographic features

CNS
MRI
Musculoskeletal
Plain radiograph
  • scimitar-like patella calcification
Abdominal
Antenatal ultrasound

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 .

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