Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings.
An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropathological aspects are highlighted and the underlying biochemical derangements discussed. In addition, some of the known pathogenetic mechanisms that are involved in producing the phenotype of Zellweger syndrome are analyzed.
Pueschel
S M
SM
Department of Pediatrics, Rhode Island Hospital, Providence 02903, USA.
Oyer
C E
CE
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008099:Liver / Q000737:chemistry; D018901:Peroxisomal Disorders / Q000175:diagnosis; D010641:Phenotype; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000235:genetics