title: Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
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.
authors.affiliation: Division of Inherited Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany. dorothea.haas@med.uni-heidelberg.de
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: S
authors.initials: S
authors.lastname: Armbrust
authors.forename: J-P
authors.initials: JP
authors.lastname: Haas
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: K
authors.initials: K
authors.lastname: Mühlmann
authors.forename: C
authors.initials: C
authors.lastname: Fusch
authors.forename: L M
authors.initials: LM
authors.lastname: Neumann
mesh_terms: D018929:Cell Culture Techniques; D002775:Cholestadienols / Q000097:blood; D002784:Cholesterol / Q000097:blood; D003470:Culture Media / Q000378:metabolism; D004252:DNA Mutational Analysis; D003684:Dehydrocholesterols / Q000097:blood; D004931:Esophageal Achalasia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008055:Lipids / Q000737:chemistry; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D010641:Phenotype; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D013261:Sterols / Q000097:blood* / Q000378:metabolism
chemical_list: D002775:Cholestadienols; D003470:Culture Media; D003684:Dehydrocholesterols; D008055:Lipids; D013261:Sterols; C026359:cholesta-5,8-dien-3 beta-ol; D002784:Cholesterol; C016705:7-dehydrocholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase