title: Cerebrohepatorenal syndrome of Zellweger: a peroxisomal deficiency disorder. Case report and review.
abstract: The cerebrohepatorenal syndrome of Zellweger (CHRS) is a rare, fatal disorder in newborn infants. Recent research points to a primary absence of tissue peroxisomes, with resulting biochemical defects, as the basic pathology of the condition. We report on an infant with classic neurological and dysmorphic features of CHRS. Increased serum levels of pipecolic acid, bile acid precursors and very-long-chain fatty acids (VLCFA) together with total histological absence of liver peroxisomes confirmed the diagnosis. To our knowledge, this is the first case in Israel to be fully documented by biochemical and ultrastructural techniques. A high index of suspicion is essential among clinicians if further cases are not to be overlooked.
mesh_terms: D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000648:ultrastructure*; D008830:Microbodies / Q000648:ultrastructure*; D009129:Muscle Tonus; D009135:Muscular Diseases / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D011596:Psychomotor Disorders / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome