Journal of Inherited Metabolic Disease

, Volume 32, Supplement 1, pp 345–348 | Cite as

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

  • Ali Dursun
  • Safak Gucer
  • M. S. Ebberink
  • Sule Yigit
  • R. J. A. Wanders
  • H. R. Waterham
Case Report


The peroxisomal biogenesis disorders (PBDs) comprise the Zellweger spectrum disorders (i.e., Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) and rhizomelic chondrodysplasia punctata. Peroxisomal biogenesis disorders can be caused by mutations in any of 13 currently known PEX genes, which encode peroxins involved in peroxisomal protein import and/or assembly of the organelle. We report here on a Turkish patient who presented with unusual clinical findings, that included non-immune hydrops, dermal erythropoiesis and hypoplastic toenails, as well as common dysmorphic features of Zellweger syndrome. The patient has also pulmonary hypoplasia, which has been reported in only a few patients with Zellweger syndrome. A peroxisomal biogenesis disorder was confirmed by enzyme analysis and abnormal very long-chain fatty acid (VLCFA) profiles in plasma and fibroblast and immunofluorescence microscopy studies. Subsequent molecular genetic analysis revealed a homozygous c.856C>T mutation (R268X) in the PEX3 gene, which made this patient the third to have a defect in this gene. In contrast to those of the two previously reported patients, the cells of this patient still contained peroxisomal membrane structures (ghosts), seen by immunofluorescence microscopy analysis. The case presented here and the two previously reported cases point out that a PEX3 gene defect may present with fairly heterogeneous clinical findings. This case also raises a possibility that hydrops fetalis may be associated with a PEX3 gene defect and that peroxisomal disorders can be considered in the etiology of hydrops fetalis as well as other cell organelle disorders when one is considering yet undiscovered complementation groups in peroxisomal disorders.


Congenital Diaphragmatic Hernia Pulmonary Hypoplasia Zellweger Syndrome Peroxisomal Disorder Refsum Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors thank Mrs. Conny Dekker and Mrs. Petra Mooyer of the Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands, for performing the enzyme assays for DHAPAT and the immunofluorescence study to demonstrate peroxisomes in fibroblast culture. This study was supported partly by a State Planning organization (project no. 2006K120-640-06-03)


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Copyright information

© SSIEM and Springer 2009

Authors and Affiliations

  • Ali Dursun
    • 1
  • Safak Gucer
    • 2
  • M. S. Ebberink
    • 3
  • Sule Yigit
    • 4
  • R. J. A. Wanders
    • 3
  • H. R. Waterham
    • 3
  1. 1.Department of Pediatrics, Metabolism and Nutrition Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  2. 2.Department of Pediatrics, Pathology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey
  3. 3.Laboratory of Genetic Metabolic DiseasesAcademic Medical CenterAmsterdamThe Netherlands
  4. 4.Department of Pediatrics, Neonatology Unit, Faculty of MedicineHacettepe UniversityAnkaraTurkey

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