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Zellweger syndrome

Dr Yuranga Weerakkody et al.

The Zellweger syndrome (ZS) (also known as the cerebro-hepato-renal syndrome) is a multisystem metabolic abnormality. As the name implies it primarily affects three organ systems

  1. cerebral (CNS)
  2. hepatic
  3. renal 

Pathology

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

Epidemiology

The condition typically presents in neonates

Radiographic features

Brain (CNS)
MRI

Features include

Musculoskeletal
Plain film
  • scimitar like patella calcification 2
Renal
Antenatal ultrasound
  • hyperechoic kidneys
Hepatic
Ultrasound
  • may demonstrate hepatomegaly

Treatment and prognosis

There is no curative treatment and the condition carries a poor prognosis with death occuring within the 1st year of life

Etymology

It is named after Hans Zellweger : professor of paediatrics : Canada / US 7

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