1294 ORAL ETHER LIPID THERAPY IN PATIENTS WITH ZELLWEGER SYNDR0ME OR ZELLWEGER-LIKEIDISORDERS

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...

Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

Patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues. Deficiency of this enzyme, which is necessary for glycerol ether lipid synthesis, provides a biochemical method for recognizing patients with subtle manifestations of Zellweger syndrome and suggests the utility of exogen...

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.

Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...

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