Abnormal Prenatal Sonographic findings in Two Cases of Zellweger Syndrome / 대한주산의학회잡지

ABSTRACT

Zellweger syndrome is a lethal autosomal recessive disorder characterized by neonatal hypotonia, neonatal seizure, psychomotor retardation, facial dysmorphism, and hepatomegaly. It is characterized by an absence or marked decrease of the number of peroxisomes. Children with Zellweger syndrome rarely survive their first year of life. Diagnosis depends on demonstration of elevated very long chain fatty acid in plasma and deficient activity of the peroxisomal enzyme. Chorionic villi sampling or the biochemical analysis of amniocytes makes it possible to identify a fetus affected by Zellweger syndrome during the first trimester of pregnancy. We experienced two cases of postnatally diagnosed Zellweger syndrome with mild sonographic abnormalities prenatally and report our cases with a brief review of literature.