Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2008-01, Vol.146A (2), p.182-190 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 190 |
|---|---|
| container_issue | 2 |
| container_start_page | 182 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 146A |
| creator | Briggs, T.A. Abdel-Salam, G.M.H. Balicki, M. Baxter, P. Bertini, E. Bishop, N. Browne, B.H. Chitayat, D. Chong, W.K. Eid, M.M. Halliday, W. Hughes, I. Klusmann-Koy, A. Kurian, M. Nischal, K.K. Rice, G.I. Stephenson, J.B.P. Surtees, R. Talbot, J.F. Tehrani, N.N. Tolmie, J.L. Toomes, C. van der Knaap, M.S. Crow, Y.J. |
| description | Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the “cerebroretinal microangiopathy with calcification and cysts” (CRMCC) phenotype. © 2007 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.32080 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70169768</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>70169768</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4390-9085edfda21a763d981f3338d14196256125b9c854a4f540ee73db6f7fb281743</originalsourceid><addsrcrecordid>eNp9kEtP3DAURq0KVF7dsUbZULUSmdrxe4lSGEBAaQtiad04NhjymNoZ0fn3BGYKu67uXZzvu7oHoV2CJwTj4hs8tHcTmNACK_wBbRLOi5wpStfe9oJvoK2UHjCmmEvxEW0QhaXAWm-i76WLrop9dEPooMnaYGMP3V3oZzDcL7KnMNxnFhobfLAwhL5LGXR1ZhdpSNmX8tdFWX7dQesemuQ-reY2ujk-ui5P8vMf09Py8Dy3jGqca6y4q30NBQEpaK0V8ZRSVRNGtCi4IAWvtFWcAfOcYeckrSvhpa8KRSSj2-jzsncW-z9zlwbThmRd00Dn-nkyEhOhpVAjeLAEx2dSis6bWQwtxIUh2LxYMy_WDJhXayO-t-qdV62r3-GVphHYXwGQRhk-QmdDeue0FkwxOnJ0yT2Fxi3-e9Qcnl1M_53Pl6mQBvf3LQXx0QhJJTe3l1NzzH7qK_n71gj6DEQak18</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>70169768</pqid></control><display><type>article</type><title>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Briggs, T.A. ; Abdel-Salam, G.M.H. ; Balicki, M. ; Baxter, P. ; Bertini, E. ; Bishop, N. ; Browne, B.H. ; Chitayat, D. ; Chong, W.K. ; Eid, M.M. ; Halliday, W. ; Hughes, I. ; Klusmann-Koy, A. ; Kurian, M. ; Nischal, K.K. ; Rice, G.I. ; Stephenson, J.B.P. ; Surtees, R. ; Talbot, J.F. ; Tehrani, N.N. ; Tolmie, J.L. ; Toomes, C. ; van der Knaap, M.S. ; Crow, Y.J.</creator><creatorcontrib>Briggs, T.A. ; Abdel-Salam, G.M.H. ; Balicki, M. ; Baxter, P. ; Bertini, E. ; Bishop, N. ; Browne, B.H. ; Chitayat, D. ; Chong, W.K. ; Eid, M.M. ; Halliday, W. ; Hughes, I. ; Klusmann-Koy, A. ; Kurian, M. ; Nischal, K.K. ; Rice, G.I. ; Stephenson, J.B.P. ; Surtees, R. ; Talbot, J.F. ; Tehrani, N.N. ; Tolmie, J.L. ; Toomes, C. ; van der Knaap, M.S. ; Crow, Y.J.</creatorcontrib><description>Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the “cerebroretinal microangiopathy with calcification and cysts” (CRMCC) phenotype. © 2007 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.32080</identifier><identifier>PMID: 18076099</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Biological and medical sciences ; Calcinosis - diagnosis ; Cerebrovascular Disorders - diagnosis ; Child ; Child, Preschool ; Coats ; Cysts - diagnosis ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; exudative retinopathy ; Female ; Humans ; Infant ; intracerebral cysts ; intracranial calcification ; Labrune ; leukodystrophy ; leukoencephalopathy with calcifications and cysts ; Male ; Medical genetics ; Medical sciences ; Neurology ; Ophthalmology ; Phenotype ; Retinal Diseases - diagnosis ; Retinopathies ; Telangiectasis - pathology</subject><ispartof>American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190</ispartof><rights>Copyright © 2007 Wiley‐Liss, Inc.</rights><rights>2008 INIST-CNRS</rights><rights>(c) 2007 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4390-9085edfda21a763d981f3338d14196256125b9c854a4f540ee73db6f7fb281743</citedby><cites>FETCH-LOGICAL-c4390-9085edfda21a763d981f3338d14196256125b9c854a4f540ee73db6f7fb281743</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.32080$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.32080$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19964843$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18076099$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Briggs, T.A.</creatorcontrib><creatorcontrib>Abdel-Salam, G.M.H.</creatorcontrib><creatorcontrib>Balicki, M.</creatorcontrib><creatorcontrib>Baxter, P.</creatorcontrib><creatorcontrib>Bertini, E.</creatorcontrib><creatorcontrib>Bishop, N.</creatorcontrib><creatorcontrib>Browne, B.H.</creatorcontrib><creatorcontrib>Chitayat, D.</creatorcontrib><creatorcontrib>Chong, W.K.</creatorcontrib><creatorcontrib>Eid, M.M.</creatorcontrib><creatorcontrib>Halliday, W.</creatorcontrib><creatorcontrib>Hughes, I.</creatorcontrib><creatorcontrib>Klusmann-Koy, A.</creatorcontrib><creatorcontrib>Kurian, M.</creatorcontrib><creatorcontrib>Nischal, K.K.</creatorcontrib><creatorcontrib>Rice, G.I.</creatorcontrib><creatorcontrib>Stephenson, J.B.P.</creatorcontrib><creatorcontrib>Surtees, R.</creatorcontrib><creatorcontrib>Talbot, J.F.</creatorcontrib><creatorcontrib>Tehrani, N.N.</creatorcontrib><creatorcontrib>Tolmie, J.L.</creatorcontrib><creatorcontrib>Toomes, C.</creatorcontrib><creatorcontrib>van der Knaap, M.S.</creatorcontrib><creatorcontrib>Crow, Y.J.</creatorcontrib><title>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the “cerebroretinal microangiopathy with calcification and cysts” (CRMCC) phenotype. © 2007 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Calcinosis - diagnosis</subject><subject>Cerebrovascular Disorders - diagnosis</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Coats</subject><subject>Cysts - diagnosis</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>exudative retinopathy</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>intracerebral cysts</subject><subject>intracranial calcification</subject><subject>Labrune</subject><subject>leukodystrophy</subject><subject>leukoencephalopathy with calcifications and cysts</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Ophthalmology</subject><subject>Phenotype</subject><subject>Retinal Diseases - diagnosis</subject><subject>Retinopathies</subject><subject>Telangiectasis - pathology</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtP3DAURq0KVF7dsUbZULUSmdrxe4lSGEBAaQtiad04NhjymNoZ0fn3BGYKu67uXZzvu7oHoV2CJwTj4hs8tHcTmNACK_wBbRLOi5wpStfe9oJvoK2UHjCmmEvxEW0QhaXAWm-i76WLrop9dEPooMnaYGMP3V3oZzDcL7KnMNxnFhobfLAwhL5LGXR1ZhdpSNmX8tdFWX7dQesemuQ-reY2ujk-ui5P8vMf09Py8Dy3jGqca6y4q30NBQEpaK0V8ZRSVRNGtCi4IAWvtFWcAfOcYeckrSvhpa8KRSSj2-jzsncW-z9zlwbThmRd00Dn-nkyEhOhpVAjeLAEx2dSis6bWQwtxIUh2LxYMy_WDJhXayO-t-qdV62r3-GVphHYXwGQRhk-QmdDeue0FkwxOnJ0yT2Fxi3-e9Qcnl1M_53Pl6mQBvf3LQXx0QhJJTe3l1NzzH7qK_n71gj6DEQak18</recordid><startdate>20080115</startdate><enddate>20080115</enddate><creator>Briggs, T.A.</creator><creator>Abdel-Salam, G.M.H.</creator><creator>Balicki, M.</creator><creator>Baxter, P.</creator><creator>Bertini, E.</creator><creator>Bishop, N.</creator><creator>Browne, B.H.</creator><creator>Chitayat, D.</creator><creator>Chong, W.K.</creator><creator>Eid, M.M.</creator><creator>Halliday, W.</creator><creator>Hughes, I.</creator><creator>Klusmann-Koy, A.</creator><creator>Kurian, M.</creator><creator>Nischal, K.K.</creator><creator>Rice, G.I.</creator><creator>Stephenson, J.B.P.</creator><creator>Surtees, R.</creator><creator>Talbot, J.F.</creator><creator>Tehrani, N.N.</creator><creator>Tolmie, J.L.</creator><creator>Toomes, C.</creator><creator>van der Knaap, M.S.</creator><creator>Crow, Y.J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>20080115</creationdate><title>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)</title><author>Briggs, T.A. ; Abdel-Salam, G.M.H. ; Balicki, M. ; Baxter, P. ; Bertini, E. ; Bishop, N. ; Browne, B.H. ; Chitayat, D. ; Chong, W.K. ; Eid, M.M. ; Halliday, W. ; Hughes, I. ; Klusmann-Koy, A. ; Kurian, M. ; Nischal, K.K. ; Rice, G.I. ; Stephenson, J.B.P. ; Surtees, R. ; Talbot, J.F. ; Tehrani, N.N. ; Tolmie, J.L. ; Toomes, C. ; van der Knaap, M.S. ; Crow, Y.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4390-9085edfda21a763d981f3338d14196256125b9c854a4f540ee73db6f7fb281743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Calcinosis - diagnosis</topic><topic>Cerebrovascular Disorders - diagnosis</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Coats</topic><topic>Cysts - diagnosis</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>exudative retinopathy</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>intracerebral cysts</topic><topic>intracranial calcification</topic><topic>Labrune</topic><topic>leukodystrophy</topic><topic>leukoencephalopathy with calcifications and cysts</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>Ophthalmology</topic><topic>Phenotype</topic><topic>Retinal Diseases - diagnosis</topic><topic>Retinopathies</topic><topic>Telangiectasis - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Briggs, T.A.</creatorcontrib><creatorcontrib>Abdel-Salam, G.M.H.</creatorcontrib><creatorcontrib>Balicki, M.</creatorcontrib><creatorcontrib>Baxter, P.</creatorcontrib><creatorcontrib>Bertini, E.</creatorcontrib><creatorcontrib>Bishop, N.</creatorcontrib><creatorcontrib>Browne, B.H.</creatorcontrib><creatorcontrib>Chitayat, D.</creatorcontrib><creatorcontrib>Chong, W.K.</creatorcontrib><creatorcontrib>Eid, M.M.</creatorcontrib><creatorcontrib>Halliday, W.</creatorcontrib><creatorcontrib>Hughes, I.</creatorcontrib><creatorcontrib>Klusmann-Koy, A.</creatorcontrib><creatorcontrib>Kurian, M.</creatorcontrib><creatorcontrib>Nischal, K.K.</creatorcontrib><creatorcontrib>Rice, G.I.</creatorcontrib><creatorcontrib>Stephenson, J.B.P.</creatorcontrib><creatorcontrib>Surtees, R.</creatorcontrib><creatorcontrib>Talbot, J.F.</creatorcontrib><creatorcontrib>Tehrani, N.N.</creatorcontrib><creatorcontrib>Tolmie, J.L.</creatorcontrib><creatorcontrib>Toomes, C.</creatorcontrib><creatorcontrib>van der Knaap, M.S.</creatorcontrib><creatorcontrib>Crow, Y.J.</creatorcontrib><collection>Istex</collection><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>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Briggs, T.A.</au><au>Abdel-Salam, G.M.H.</au><au>Balicki, M.</au><au>Baxter, P.</au><au>Bertini, E.</au><au>Bishop, N.</au><au>Browne, B.H.</au><au>Chitayat, D.</au><au>Chong, W.K.</au><au>Eid, M.M.</au><au>Halliday, W.</au><au>Hughes, I.</au><au>Klusmann-Koy, A.</au><au>Kurian, M.</au><au>Nischal, K.K.</au><au>Rice, G.I.</au><au>Stephenson, J.B.P.</au><au>Surtees, R.</au><au>Talbot, J.F.</au><au>Tehrani, N.N.</au><au>Tolmie, J.L.</au><au>Toomes, C.</au><au>van der Knaap, M.S.</au><au>Crow, Y.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2008-01-15</date><risdate>2008</risdate><volume>146A</volume><issue>2</issue><spage>182</spage><epage>190</epage><pages>182-190</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the “cerebroretinal microangiopathy with calcification and cysts” (CRMCC) phenotype. © 2007 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>18076099</pmid><doi>10.1002/ajmg.a.32080</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70169768 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Biological and medical sciences Calcinosis - diagnosis Cerebrovascular Disorders - diagnosis Child Child, Preschool Coats Cysts - diagnosis Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases exudative retinopathy Female Humans Infant intracerebral cysts intracranial calcification Labrune leukodystrophy leukoencephalopathy with calcifications and cysts Male Medical genetics Medical sciences Neurology Ophthalmology Phenotype Retinal Diseases - diagnosis Retinopathies Telangiectasis - pathology |
| title | Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T04%3A52%3A29IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Cerebroretinal%20microangiopathy%20with%20calcifications%20and%20cysts%20(CRMCC)&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Briggs,%20T.A.&rft.date=2008-01-15&rft.volume=146A&rft.issue=2&rft.spage=182&rft.epage=190&rft.pages=182-190&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.32080&rft_dat=%3Cproquest_cross%3E70169768%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=70169768&rft_id=info:pmid/18076099&rfr_iscdi=true |