[Hans Ulrich Zellweger (1909–1990), Swiss-American pediatrician at American University in Beirut, Lebanon and University of Iowa]

= CEREBROHEPATORENAL SYNDROME

= autosomal recessive peroxisomal disorder with disturbed myelination in oligodendrocytes during neonatal + infantile period

Path:⇑ very long–chain fatty acids in plasma and fibroblasts

Associated with:

• CNS: cortical dysplasia, hypomyelination
• Bile ducts: intrahepatic biliary dysgenesis
• Kidney: polycystic renal disease
• poor feeding + failure to thrive, muscular hypotonia
• hepatomegaly + prolonged jaundice
• craniofacial dysmorphism, abnormal vision (typical)
• seizures, mental retardation

MR:

• hypomyelination
• diffuse microgyria + regions of pachygyria, lissencephaly
• subependymal germinolytic cysts in caudothalamic groove

MR spectroscopy:

• ↑lipid levels + ↓ N-acetylaspartate levels
• renal cortical cysts

Prognosis: death within 1^st year of life