Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations

J Inherit Metab Dis. 2005;28(6):1191-6. doi: 10.1007/s10545-005-0168-9.

Abstract

The diagnostic biochemical hallmarks of Smith-Lemli-Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7- and 8-dehydrocholesterol (7- and 8-DHC). We describe a patient with classical SLOS phenotype and oesophageal achalasia, which has not been reported in SLOS patients before. Plasma 7-DHC and 8-DHC were only marginally elevated. The diagnosis was confirmed by sterol analysis in cultured skin fibroblasts and mutation analysis.

Publication types

  • Case Reports

MeSH terms

  • Cell Culture Techniques
  • Cholestadienols / blood
  • Cholesterol / blood
  • Culture Media / metabolism
  • DNA Mutational Analysis
  • Dehydrocholesterols / blood
  • Esophageal Achalasia / blood*
  • Esophageal Achalasia / diagnosis*
  • Esophageal Achalasia / genetics
  • Female
  • Fibroblasts / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Heterozygote
  • Humans
  • Infant
  • Lipids / chemistry
  • Mutation*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Phenotype
  • Smith-Lemli-Opitz Syndrome / blood*
  • Smith-Lemli-Opitz Syndrome / diagnosis*
  • Smith-Lemli-Opitz Syndrome / genetics
  • Sterols / blood*
  • Sterols / metabolism

Substances

  • Cholestadienols
  • Culture Media
  • Dehydrocholesterols
  • Lipids
  • Sterols
  • cholesta-5,8-dien-3 beta-ol
  • Cholesterol
  • 7-dehydrocholesterol
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase