PRENATAL DETECTION OF ZELLWEGER SYNDROME

MR of Zellweger syndrome.

PURPOSE To determine characteristic MR imaging features of Zellweger syndrome. METHODS Clinical records, laboratory records, and MR studies of six patients with Zellweger syndrome were reviewed retrospectively. MR studies were examined for the state of myelination; the presence, extent, and morphologic appearance of cerebral cortical anomalies; the status of the cerebellar cortex, basal nucle...

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations ...

First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome.

Spencer K, Bindra R, Nix ABJ, Heath V, Nicolaides KH. 2003. Delta-NT or NT MoM: Which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the firsttrimester? Ultrasound Obstet Gynaecol 22: 142–148. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. 2003. Firstand second-trimester antenatal screening for Down syndrome: the results of t...

Zellweger syndrome (cerebro-hepato-renal syndrome).

A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2 . In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether...

Zellweger syndrome SWISS SOCIETY OF NEONATOLOGY