Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels

Am J Med Genet. 1997 Jan 31;68(3):294-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m.

Abstract

We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bilirubin / metabolism*
  • Brain / metabolism
  • Brain / pathology
  • Dehydrocholesterols / metabolism
  • Female
  • Humans
  • Infant
  • Liver / metabolism
  • Liver / pathology
  • Pancreas / pathology
  • Receptors, LDL / metabolism*
  • Smith-Lemli-Opitz Syndrome / metabolism*
  • Smith-Lemli-Opitz Syndrome / pathology

Substances

  • Dehydrocholesterols
  • Receptors, LDL
  • 7-dehydrocholesterol
  • Bilirubin