| Alström syndrome and cecal volvulus in 2 siblings. | |
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MedLine Citation:
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PMID: 19440062 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. ALMS1 is a multisystem condition characterized by childhood onset of blindness, dilated cardiomyopathy, sensorineural hearing loss, renal failure, fibrotic lung disease, and metabolic abnormalities, including hypertriglyceridemia, liver steatosis, insulin resistance, type 2 diabetes mellitus, and obesity. We describe 2 siblings with ALMS who presented with the potentially life-threatening condition of acute cecal volvulus, an association not previously reported. Cecal volvulus may, therefore, represent a significant new feature of the Alström syndrome. |
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Authors:
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Eric Y H Khoo; James Risley; Abed M Zaitoun; Mohamed El-Sheikh; Richard B Paisey; Austin G Acheson; Peter Mansell |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The American journal of the medical sciences Volume: 337 ISSN: 0002-9629 ISO Abbreviation: Am. J. Med. Sci. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-05-19 Completed Date: 2009-06-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370506 Medline TA: Am J Med Sci Country: United States |
Other Details:
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Languages: eng Pagination: 383-5 Citation Subset: AIM; IM |
Affiliation:
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School of Biomedical Sciences, University of Nottingham, Nottingham, United Kingdom. ekhoo@doctors.org.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics,
pathology*,
therapy Adult Blindness / diagnosis, genetics* Cardiomyopathy, Dilated / diagnosis, genetics* Family Health Female Hearing Loss, Sensorineural / diagnosis, genetics Humans Intestinal Volvulus / diagnosis*, pathology*, therapy Kidney Failure / diagnosis, genetics Lung Diseases / diagnosis, genetics Male Mutation / genetics Syndrome* Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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