Abstract
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.
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References
Bowen P, Lee CSN, Zellweger H, Lindenberg R (1964) A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114:402–414
Brown W, Singer DB (1988) Pregnancy-induced hypertension and congenital adrenal hypoplasia. Obstet Gynecol 72:190–194
Dimmick JE, Applegarth DA (1993) Pathology of peroxisomal disorders. In: Landing BH, bernstein J, Rosenberg HS (eds) Genetic metabolic diseases. (Perspectives in pediatric pathology, vol 17) Karger, Basel, pp 45–98
Goldfischer S, Moore CL, Johnson AB, et al (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62–64
Heymans HSA (1984) Cerebro-hepato-renal (Zellweger) syndrome. Clinical and biochemical consequences of peroxisomal dysfunction. Thesis, University of Amsterdam
Kelley RI (1983) The cerebro-hepato-renal syndrome of Zellweger morphologic and metabolic aspects. Am J Med Genet 16:503–517
Lazarow PB, Moser HW (1989) Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet Al, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1479–1509
Moser HW, Goldfischer S (1985) The peroxisomal disorders. Hosp Pract 20:61–7012
Moser AE, Singh I, Brown FR III, et al (1984) The cerebro-hepato-renal (Zellweger) syndrome: increased levels and impaired degradation of very long chain fatty acids and their use in prenatal diagnosis. N Engl J Med 310:1141–1146
Opitz JM, Zurheim BM, Vitale L, et al (1969) The Zellweger syndrome (cerebro-hepato-renal syndrome). In: Bergsma D (ed) Malformation syndromes, vol 2, part II. Williams & Wilkins, Baltimore, p 144
Passarge E, McAdams AJ (1967) Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. Pediatrics 71:691–702
Punnett HH, Kirkpatrick JA (1968) A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive. J Pediatr 73:602–606
Smith DW, Opitz JM, Inhorn SL (1965) A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic dysgenesis in two siblings. J Pediatr 73:617–624
Wanders RJA, Romeyn GJ, Van Roermund CWT et al (1988) Identification of l-pipecolate oxidase in human liver and its deficiency in Zellweger syndrome. Biochem Biophys Res Commun 154:33–38
Wilson GN, Holmes RG, Custer J et al (1986) Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 24:69–82
Zellweger H (1987) The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. Dev Med Child Neuro 29:821–829
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Pueschel, S.M., Oyer, C.E. Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings. Child's Nerv Syst 11, 639–642 (1995). https://doi.org/10.1007/BF00300721
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DOI: https://doi.org/10.1007/BF00300721