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

• ventricular enlargement
• abnormal gyration patterns
  • pachygyria: especially medial gyri around perirolandic regions
  • polymicrogyria: laterally
• cerebral periventricular pseudocysts

Musculoskeletal

Plain radiograph

• scimitar-like patella calcification

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 .

Siehe auch:

• Chondrodysplasia punctata
• Polymikrogyrie
• Refsum-Syndrom
• Chondrodyplasia punctata, rhizomeler Typ
• reduction or absence of functional peroxisomes

und weiter:

• multizystische Nierendysplasie
• Kamptodaktylie
• fetal hepatomegaly
• Leukodystrophie
• fetal intra-cranial cystic lesions
• fetal hepatosplenomegaly
• kongenitale Kniegelenksluxation
• Glutarylazidurie Typ 1
• Neonatale Leukodystrophie