Zellweger Syndrome


a.k.a. cerebro-hepato-renal syndrome


A type of Leukodystrophy and peroxisome biogenesis disorders (PBD)
Confirmed by Serum very long chain fatty acids: elevated


PEX3 gene mutations

Clinical features:

  • Severe weakness, hypotonia, seizures and developmental delay
  • high forehead, underdeveloped eyebrow ridges, deformed earlobes
  • Hepatomegaly
  • Facial features: high forehead, hypoplastic supraorbital ridges, and midface hypoplasia.
  • A type of leukodystrophy

Findings on investigations:

Biochemistry: confirmed by elevated levels of saturated and unsaturated very long chain fatty acids in body fluids

  • Impaired myelination (white matter disease), periventricular pseudocysts, polymicorgyria, polygyria,

Other labs:

  • high iron, high copper, renal failure,

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