Pre- and Postnatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome via a Simple Method Directly Demonstrating the Presence or Absence of Peroxisomes in Cultured Skin Fibroblasts, Amniocytes or Chorionic Villi Fibroblasts

The cerebro-hepato-renal (Zellweger, McKusick 21410) syndrome is an autosomal recessive disease characterized clinically by severe hypotonia, typical cranio-facial dysmorphism, hepatomegaly, disturbances in liver function, renal cysts, failure to thrive and severe psychomotor and sensorial retardation (see Kelley, 1983 and Heymans, 1984). Most patients usually die within the first year of life. Biochemical abnormalities associated with this disease include a deficiency of plasmalogens in tissues and an accumulation of very long chain fatty acids, pipecolic acid and di- and trihydroxycoprostanoic acid in tissues and/or body fluids. The absence of morphologically distinct peroxisomes in liver and kidney of Zellweger patients as described by Goldfischer and colleagues in 1973 has generally been held responsible for this multitude of biochemical aberrations.