Alström Syndrome and Cecal Volvulus in 2 Siblings
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 he...
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| Veröffentlicht in: | The American journal of the medical sciences 2009-05, Vol.337 (5), p.383-385 |
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| container_title | The American journal of the medical sciences |
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| creator | Khoo, Eric Y.H. Mansell, Peter Zaitoun, Abed M. Risley, James Acheson, Austin G. El-Sheikh, Mohamed Paisey, Richard B. |
| description | 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. |
| doi_str_mv | 10.1097/MAJ.0b013e3181926594 |
| format | Article |
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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.</description><identifier>ISSN: 0002-9629</identifier><identifier>EISSN: 1538-2990</identifier><identifier>DOI: 10.1097/MAJ.0b013e3181926594</identifier><identifier>PMID: 19440062</identifier><identifier>CODEN: AJMSA9</identifier><language>eng</language><publisher>Hagerstown, MD: Elsevier Inc</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Abnormalities, Multiple - therapy ; Adult ; ALMS1 ; Alström syndrome ; Biological and medical sciences ; Blindness - diagnosis ; Blindness - genetics ; Cardiomyopathy, Dilated - diagnosis ; Cardiomyopathy, Dilated - genetics ; Cecal volvulus ; Family Health ; Female ; General aspects ; Hearing Loss, Sensorineural - diagnosis ; Hearing Loss, Sensorineural - genetics ; Humans ; Intestinal Volvulus - diagnosis ; Intestinal Volvulus - pathology ; Intestinal Volvulus - therapy ; Lung Diseases - diagnosis ; Lung Diseases - genetics ; Male ; Medical sciences ; Mutation - genetics ; Renal Insufficiency - diagnosis ; Renal Insufficiency - genetics ; Syndrome ; Treatment Outcome</subject><ispartof>The American journal of the medical sciences, 2009-05, Vol.337 (5), p.383-385</ispartof><rights>2009 Southern Society for Clinical Investigation</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c390t-f3174f0d535c1966e13e09dc325b3f7af69203c2ee2f91cb7e46736542df83fd3</citedby><cites>FETCH-LOGICAL-c390t-f3174f0d535c1966e13e09dc325b3f7af69203c2ee2f91cb7e46736542df83fd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21492082$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19440062$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khoo, Eric Y.H.</creatorcontrib><creatorcontrib>Mansell, Peter</creatorcontrib><creatorcontrib>Zaitoun, Abed M.</creatorcontrib><creatorcontrib>Risley, James</creatorcontrib><creatorcontrib>Acheson, Austin G.</creatorcontrib><creatorcontrib>El-Sheikh, Mohamed</creatorcontrib><creatorcontrib>Paisey, Richard B.</creatorcontrib><title>Alström Syndrome and Cecal Volvulus in 2 Siblings</title><title>The American journal of the medical sciences</title><addtitle>Am J Med Sci</addtitle><description>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.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Abnormalities, Multiple - therapy</subject><subject>Adult</subject><subject>ALMS1</subject><subject>Alström syndrome</subject><subject>Biological and medical sciences</subject><subject>Blindness - diagnosis</subject><subject>Blindness - genetics</subject><subject>Cardiomyopathy, Dilated - diagnosis</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Cecal volvulus</subject><subject>Family Health</subject><subject>Female</subject><subject>General aspects</subject><subject>Hearing Loss, Sensorineural - diagnosis</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>Intestinal Volvulus - diagnosis</subject><subject>Intestinal Volvulus - pathology</subject><subject>Intestinal Volvulus - therapy</subject><subject>Lung Diseases - diagnosis</subject><subject>Lung Diseases - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation - genetics</subject><subject>Renal Insufficiency - diagnosis</subject><subject>Renal Insufficiency - genetics</subject><subject>Syndrome</subject><subject>Treatment Outcome</subject><issn>0002-9629</issn><issn>1538-2990</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM1KAzEUhYMotlbfQGQ2upt6k8xkJhuhFH-puKi6DTPJjUTmpyadQl_MF_DFnNKi4MLV3XzncO5HyCmFMQWZXT5OHsZQAuXIaU4lE6lM9siQpjyPmZSwT4YAwGIpmByQoxDeASjLKT8kAyqTBECwIWGTKiz912cdzdeN8W2NUdGYaIq6qKLXtlp1VRci10Qsmruycs1bOCYHtqgCnuzuiLzcXD9P7-LZ0-39dDKLNZewjC2nWWLBpDzVVAqB_VKQRnOWltxmhRWSAdcMkVlJdZlhIjIu0oQZm3Nr-IhcbHsXvv3oMCxV7YLGqioabLugRMZYllHZg8kW1L4NwaNVC-_qwq8VBbVxpXpX6q-rPna26-_KGs1vaCenB853QBF6HdYXjXbhh2M06T_IN9zVlsPexsqhV0E7bDQa51EvlWnd_0u-AWsmhLk</recordid><startdate>20090501</startdate><enddate>20090501</enddate><creator>Khoo, Eric Y.H.</creator><creator>Mansell, Peter</creator><creator>Zaitoun, Abed M.</creator><creator>Risley, James</creator><creator>Acheson, Austin G.</creator><creator>El-Sheikh, Mohamed</creator><creator>Paisey, Richard B.</creator><general>Elsevier Inc</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20090501</creationdate><title>Alström Syndrome and Cecal Volvulus in 2 Siblings</title><author>Khoo, Eric Y.H. ; Mansell, Peter ; Zaitoun, Abed M. ; Risley, James ; Acheson, Austin G. ; El-Sheikh, Mohamed ; Paisey, Richard B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c390t-f3174f0d535c1966e13e09dc325b3f7af69203c2ee2f91cb7e46736542df83fd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Abnormalities, Multiple - therapy</topic><topic>Adult</topic><topic>ALMS1</topic><topic>Alström syndrome</topic><topic>Biological and medical sciences</topic><topic>Blindness - diagnosis</topic><topic>Blindness - genetics</topic><topic>Cardiomyopathy, Dilated - diagnosis</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Cecal volvulus</topic><topic>Family Health</topic><topic>Female</topic><topic>General aspects</topic><topic>Hearing Loss, Sensorineural - diagnosis</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Humans</topic><topic>Intestinal Volvulus - diagnosis</topic><topic>Intestinal Volvulus - pathology</topic><topic>Intestinal Volvulus - therapy</topic><topic>Lung Diseases - diagnosis</topic><topic>Lung Diseases - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation - genetics</topic><topic>Renal Insufficiency - diagnosis</topic><topic>Renal Insufficiency - genetics</topic><topic>Syndrome</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khoo, Eric Y.H.</creatorcontrib><creatorcontrib>Mansell, Peter</creatorcontrib><creatorcontrib>Zaitoun, Abed M.</creatorcontrib><creatorcontrib>Risley, James</creatorcontrib><creatorcontrib>Acheson, Austin G.</creatorcontrib><creatorcontrib>El-Sheikh, Mohamed</creatorcontrib><creatorcontrib>Paisey, Richard B.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The American journal of the medical sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khoo, Eric Y.H.</au><au>Mansell, Peter</au><au>Zaitoun, Abed M.</au><au>Risley, James</au><au>Acheson, Austin G.</au><au>El-Sheikh, Mohamed</au><au>Paisey, Richard B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alström Syndrome and Cecal Volvulus in 2 Siblings</atitle><jtitle>The American journal of the medical sciences</jtitle><addtitle>Am J Med Sci</addtitle><date>2009-05-01</date><risdate>2009</risdate><volume>337</volume><issue>5</issue><spage>383</spage><epage>385</epage><pages>383-385</pages><issn>0002-9629</issn><eissn>1538-2990</eissn><coden>AJMSA9</coden><abstract>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.</abstract><cop>Hagerstown, MD</cop><pub>Elsevier Inc</pub><pmid>19440062</pmid><doi>10.1097/MAJ.0b013e3181926594</doi><tpages>3</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Abnormalities, Multiple - therapy Adult ALMS1 Alström syndrome Biological and medical sciences Blindness - diagnosis Blindness - genetics Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - genetics Cecal volvulus Family Health Female General aspects Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - genetics Humans Intestinal Volvulus - diagnosis Intestinal Volvulus - pathology Intestinal Volvulus - therapy Lung Diseases - diagnosis Lung Diseases - genetics Male Medical sciences Mutation - genetics Renal Insufficiency - diagnosis Renal Insufficiency - genetics Syndrome Treatment Outcome |
| title | Alström Syndrome and Cecal Volvulus in 2 Siblings |
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