Zellweger syndrome in a preterm, small for gestational age infant

J Inherit Metab Dis. 1992;15(1):75-83. doi: 10.1007/BF01800347.

Abstract

A preterm (gestational age 34 weeks), small for gestational age infant (birth weight less than P2,3) is described. Because of unexplained slightly disturbed liver function tests at age 2 months, extensive metabolic examinations were performed. Elevated blood levels of very long-chain fatty acids, pipecolic acid and abnormal levels of bile acid intermediates were detected, suggesting a peroxisomal disorder. The plasmalogen content of erythrocytes was decreased. Morphologically distinct peroxisomes were absent in the liver. In fibroblasts an accumulation of very long-chain fatty acids, decreased activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase and impaired de novo biosynthesis of plasmalogens was found. In summary, a mild variant of the classical cerebro-hepato-renal syndrome of Zellweger was found without the characteristic clinical facial signs.

Publication types

  • Case Reports

MeSH terms

  • Bile Acids and Salts / blood
  • Bile Acids and Salts / metabolism
  • Fatty Acids / blood
  • Fatty Acids / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature
  • Infant, Small for Gestational Age
  • Liver / metabolism
  • Male
  • Microbodies / metabolism
  • Zellweger Syndrome / diagnosis*
  • Zellweger Syndrome / metabolism

Substances

  • Bile Acids and Salts
  • Fatty Acids