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A milder variant of Zellweger syndrome

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Abstract

A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA: dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens.

On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.

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Abbreviations

ZS:

Zellweger syndrome

THCA:

trihydroxycoprostanoic acid

VLCFA:

very long chain fatty acids

DHAP-AT:

acyl CoA: dihydroxyacetone phosphate acyltransferase

NALD:

neonatal adrenoleukodystrophy

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Authors and Affiliations

  1. Division of Pediatric Neurology, Academical Medical Centre, Room G8-207, Meibergdreef 9, NL-1105 AZ, Amsterdam, The Netherlands

    P. G. Barth, R. B. H. Schutgens, K. P. Dingemans & H. S. A. Heymans

  2. Department of Pediatrics, University of Nijmegen, Nijmegen, The Netherlands

    J. A. J. M. Bakkeren

  3. Department of Pediatrics, Free University Amsterdam, Amsterdam

    A. C. Douwes & J. M. van der Klei-van Moorsel

Authors
  1. P. G. Barth
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  2. R. B. H. Schutgens
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  3. J. A. J. M. Bakkeren
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  4. K. P. Dingemans
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  5. H. S. A. Heymans
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  6. A. C. Douwes
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  7. J. M. van der Klei-van Moorsel
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Barth, P.G., Schutgens, R.B.H., Bakkeren, J.A.J.M. et al. A milder variant of Zellweger syndrome. Eur J Pediatr 144, 338–342 (1985). https://doi.org/10.1007/BF00441774

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  • DOI: https://doi.org/10.1007/BF00441774

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