Document Detail

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
MedLine Citation:
PMID:  11745994     Owner:  NLM     Status:  MEDLINE    
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. Adrenal insufficiency with hyponatremia has been reported in 3 patients with severe SLOS; in those cases it was thought to be caused by aldosterone deficiency because it responded to mineralocorticoid replacement. We present a fourth patient with a severe form of SLOS and adrenal insufficiency who had unexplained persistent hypertension, a combination of signs that has not been reported previously in SLOS.
M J Nowaczyk; V M Siu; P A Krakowiak; F D Porter
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  103     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-12-17     Completed Date:  2002-02-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  223-5     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
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MeSH Terms
Adrenal Insufficiency / congenital*
Cholesterol / blood
Dehydrocholesterols / blood
Hypertension / congenital*
Infant, Newborn
Smith-Lemli-Opitz Syndrome / diagnosis*
Reg. No./Substance:
0/Dehydrocholesterols; 57-88-5/Cholesterol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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