Zellweger Cerebrohepatorenal Syndrome

  • Jacob Valk
  • Marjo S. van der Knaap


The cerebrohepatorenal syndrome (CHRS), also called Zellweger syndrome, is a fatal autosomal recessive disorder. After birth the affected children show profound muscular hypotonia or even atonia. Most patients lie motionless with weak or absent Moro reflex, tendon reflexes and sucking and swallowing reflexes. Typically, the children’s faces have a high and bulging forehead, upslanting palpebral fissures, pufffy eyelids, hypoplastic supraorbital ridges, hypertelorism, and epicanthus folds, giving them a mongoloid appearance. Besides Brushfield spots, peripheral pigmentary retinopathy, optic atrophy or hypoplasia, glaucoma, corneal clouding, cataracts, low-set malformed ears, high arched palate, round face, micrognathia, and widely patent sutures and fontanels are present. Hepatomegaly, prolonged neonatal or later-onset icterus, and hemorrhages due to hypoprothrombinemia are common. Limb anomalies include cubitus valgus, camptodactyly, and talipes equinovarus. Failure to thrive and severe psychomotor retardation are conspicuous. Convulsions are frequent. Cardiac defects are not frequent, but a ventricular septum defect, a patent ductus arteriosus, and a patent foramen ovale may occur. Cryptorchidism is frequently observed in boys, clitoromegaly, and labial hypoplasia in girls. About 85% of patients die within the first year of life, death occurring in the majority within the first few months.


Phytanic Acid Patent Ductus Arteriosus Peroxisomal Membrane Pipecolic Acid Peroxisomal Enzyme 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

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