Document Detail


Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
MedLine Citation:
PMID:  11745994     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M J Nowaczyk; V M Siu; P A Krakowiak; F D Porter
Related Documents :
11745994 - Adrenal insufficiency and hypertension in a newborn infant with smith-lemli-opitz syndr...
2073234 - Genital self-amputation and the klingsor syndrome.
12930324 - Two german cinca (nomid) patients with different clinical severity and response to anti...
15821734 - Mycn haploinsufficiency is associated with reduced brain size and intestinal atresias i...
21410324 - Surfactant and perfluorocarbon aerosolization by means of inhalation catheters for the ...
10231914 - Sapho syndrome: 20-year follow-up.
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.
Affiliation:
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adrenal Insufficiency / congenital*
Cholesterol / blood
Dehydrocholesterols / blood
Humans
Hypertension / congenital*
Infant, Newborn
Male
Smith-Lemli-Opitz Syndrome / diagnosis*
Chemical
Reg. No./Substance:
0/Dehydrocholesterols; 57-88-5/Cholesterol

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


Previous Document:  Decreased bone mineral density in Prader-Willi syndrome: comparison with obese subjects.
Next Document:  Evidence of decreased risk of cancer in individuals with fragile X.