What is Zellweger's syndrome?

The cerebro-hepato-renal syndrome of Zellweger is the most severe peroxisomal disorder and a rapidly lethal disease ³. The brain is profoundly affected in this disease, with neuronal and myelin abnormalities. Children with Zellweger’s syndrome are very floppy, often have convulsions and become blind and die very early. They have a high forehead, widely open fontanels and a peculiar, flat face, with a small nose and often slanted eyes. The liver, kidneys, and adrenals are involved and there are characteristic X-ray abnormalities in the bones. Biochemically, patients with Zellweger Syndrome are also the most severe and plasmalogens are virtually absent in their red blood cells.