Background & Objective:  Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...

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 ...

We read with interest the recent paper by Barkovich and Peck describing MR features of Zellweger syndrome (ZS) (1). All six patients in their series had impaired myelination, diffusely abnormal cortical gyri, and germinolytic cysts on MR imaging. Specifically, these abnormalities consisted of diminished myelination, microgyria (particularly in the frontal and perisylvian regions), pachygyria (p...

Chemical and physico-chemical properties as well as physiological functions of major mammalian ether-linked glycerolipids, including plasmalogens were reviewed. Their chemical structures were described and their effect on membrane fluidity and membrane fusion discussed. The recent generation of mouse models with ether lipid deficiency offered the possibility to study ether lipid and particularl...

The trisomy 18 syndrome was first described in 1960 (Edwards et al., 1960). Since then, numerous cases have been reported in Caucasoid children from the United States, Canada, and Europe (Hecht et al., 1963; Townes, DeHart, and Ziegler, 1964; Zellweger, Huff, and Abbo, 1965; Taylor, 1967, 1968), but only a few cases have been reported in other racial groups. 8 African children with this syndrom...

The proximal spinal muscular atrophies (SMAs) represent clinically and genetically a heterogeneous group of conditions which have in common a more or less slowly progressive degeneration and ultimate disappearance of the anterior horn cells in the spinal cord and to a lesser extent of the motor nuclei in the brainstem. The latter are in most instances not associated with clinical manifestations...