Postmortem findings and prenatal diagnosis of Zellweger syndrome

The postmortem findings of siderosis, renal cortical cysts, pachygyria, cortical heterotopia of the brain and cerebellar hypoplasia in a seven‐week‐old infant with craniofacial dysmorphism and hypotonia prompted the diagnosis of Zellweger syndrome. This was confirmed by analysis of very‐long‐chain fatty acids in blood spots from filter paper, collected in the neonatal period, and allowed first trimester diagnosis in the subsequent pregnancies.