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

Summary The diagnostic biochemical hallmarks of Smith–Lemli–Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7‐ and 8dehydrocholesterol (7‐ and 8‐DHC). We describe a patient with classical SLOS phenotype and oesophageal achalasia, which has not been reported in SLOS pa...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1191-1196
Main Authors: Haas, D., Armbrust, S., Haas, J.‐P., Zschocke, J., Mühlmann, K., Fusch, C., Neumann, L. M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cell Culture Techniques
Cholestadienols - blood
Cholesterol - blood
Culture Media - metabolism
Dehydrocholesterols - blood
Disorders of blood lipids. Hyperlipoproteinemia
DNA Mutational Analysis
Esophageal Achalasia - blood
Esophageal Achalasia - diagnosis
Esophageal Achalasia - genetics
Female
Fibroblasts - metabolism
Gas Chromatography-Mass Spectrometry
Heterozygote
Humans
Infant
Lipids - chemistry
Medical genetics
Medical sciences
Metabolic diseases
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
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Summary:Summary The diagnostic biochemical hallmarks of Smith–Lemli–Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7‐ and 8dehydrocholesterol (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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-005-0168-9