A Syndrome with Juvenile Cataract, Cerebellar Atrophy, Mental Retardation and Myopathy
Abstract Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Mu...
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| Veröffentlicht in: | Neuropediatrics 1987-08, Vol.18 (3), p.164-169 |
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| container_title | Neuropediatrics |
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| creator | Herva, Riitta Wendt, L. von Wendt, Gunvor von Saukkonen, Anna-Liisa Leisti, J. Dubowitz, V. |
| description | Abstract
Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles.The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome. |
| doi_str_mv | 10.1055/s-2008-1052473 |
| format | Article |
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Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles.The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.</description><identifier>ISSN: 0174-304X</identifier><identifier>EISSN: 1439-1899</identifier><identifier>DOI: 10.1055/s-2008-1052473</identifier><identifier>PMID: 3683758</identifier><identifier>CODEN: NRPDDB</identifier><language>eng</language><publisher>Stuttgart: Thieme</publisher><subject>Adolescent ; Adult ; Atrophy ; Biological and medical sciences ; Cataract - complications ; Cataract - genetics ; Cataract - physiopathology ; Cerebellar Diseases - complications ; Cerebellar Diseases - genetics ; Cerebellar Diseases - physiopathology ; Child ; Complex syndromes ; Humans ; Intellectual Disability - complications ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Male ; Medical genetics ; Medical sciences ; Muscular Diseases - complications ; Muscular Diseases - genetics ; Muscular Diseases - pathology ; Syndrome</subject><ispartof>Neuropediatrics, 1987-08, Vol.18 (3), p.164-169</ispartof><rights>Georg Thieme Verlag KG Stuttgart · New York</rights><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-95f18177acec0071a6c4a55e09548bcb4bc427586e880aef3808d210672f3c4e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2008-1052473.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><link.rule.ids>315,781,785,3018,3019,27929,27930,54564</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7384870$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3683758$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Herva, Riitta</creatorcontrib><creatorcontrib>Wendt, L. von</creatorcontrib><creatorcontrib>Wendt, Gunvor von</creatorcontrib><creatorcontrib>Saukkonen, Anna-Liisa</creatorcontrib><creatorcontrib>Leisti, J.</creatorcontrib><creatorcontrib>Dubowitz, V.</creatorcontrib><title>A Syndrome with Juvenile Cataract, Cerebellar Atrophy, Mental Retardation and Myopathy</title><title>Neuropediatrics</title><addtitle>Neuropediatrics</addtitle><description>Abstract
Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles.The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Cataract - complications</subject><subject>Cataract - genetics</subject><subject>Cataract - physiopathology</subject><subject>Cerebellar Diseases - complications</subject><subject>Cerebellar Diseases - genetics</subject><subject>Cerebellar Diseases - physiopathology</subject><subject>Child</subject><subject>Complex syndromes</subject><subject>Humans</subject><subject>Intellectual Disability - complications</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - physiopathology</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Muscular Diseases - complications</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Diseases - pathology</subject><subject>Syndrome</subject><issn>0174-304X</issn><issn>1439-1899</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1r3DAQhkVpSDdpr70VdCg9xenIkiz5uCxt2pIQ6Be9ibE8Zh38sZXkBP_7elmTW08zMM_MvDyMvRVwLUDrjzHLAWy29Lky8gXbCCXLTNiyfMk2IIzKJKg_r9hFjA8AQpVQnLNzWVhptN2w31v-Yx7qMPbEn9q059-mRxrajvgOEwb06YrvKFBFXYeBb1MYD_v5it_RkLDj32mBakztOHAcan43jwdM-_k1O2uwi_RmrZfs1-dPP3dfstv7m6-77W3mpTYpK3UjrDAGPXkAI7DwCrUmKLWyla9U5VW-5CzIWkBqpAVb5wIKkzfSK5KX7MPp7iGMfyeKyfVt9MesA41TdMZYLXJrFvD6BPowxhiocYfQ9hhmJ8AdRbrojiLdKnJZeLdenqqe6md8NbfM369zjB67JuDg2_iMGWmVNbBg2QlL-5Z6cg_jFIbFyP_e_gPH9YgB</recordid><startdate>19870801</startdate><enddate>19870801</enddate><creator>Herva, Riitta</creator><creator>Wendt, L. von</creator><creator>Wendt, Gunvor von</creator><creator>Saukkonen, Anna-Liisa</creator><creator>Leisti, J.</creator><creator>Dubowitz, V.</creator><general>Thieme</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>19870801</creationdate><title>A Syndrome with Juvenile Cataract, Cerebellar Atrophy, Mental Retardation and Myopathy</title><author>Herva, Riitta ; Wendt, L. von ; Wendt, Gunvor von ; Saukkonen, Anna-Liisa ; Leisti, J. ; Dubowitz, V.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-95f18177acec0071a6c4a55e09548bcb4bc427586e880aef3808d210672f3c4e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Cataract - complications</topic><topic>Cataract - genetics</topic><topic>Cataract - physiopathology</topic><topic>Cerebellar Diseases - complications</topic><topic>Cerebellar Diseases - genetics</topic><topic>Cerebellar Diseases - physiopathology</topic><topic>Child</topic><topic>Complex syndromes</topic><topic>Humans</topic><topic>Intellectual Disability - complications</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - physiopathology</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Muscular Diseases - complications</topic><topic>Muscular Diseases - genetics</topic><topic>Muscular Diseases - pathology</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Herva, Riitta</creatorcontrib><creatorcontrib>Wendt, L. von</creatorcontrib><creatorcontrib>Wendt, Gunvor von</creatorcontrib><creatorcontrib>Saukkonen, Anna-Liisa</creatorcontrib><creatorcontrib>Leisti, J.</creatorcontrib><creatorcontrib>Dubowitz, V.</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>Neuropediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Herva, Riitta</au><au>Wendt, L. von</au><au>Wendt, Gunvor von</au><au>Saukkonen, Anna-Liisa</au><au>Leisti, J.</au><au>Dubowitz, V.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Syndrome with Juvenile Cataract, Cerebellar Atrophy, Mental Retardation and Myopathy</atitle><jtitle>Neuropediatrics</jtitle><addtitle>Neuropediatrics</addtitle><date>1987-08-01</date><risdate>1987</risdate><volume>18</volume><issue>3</issue><spage>164</spage><epage>169</epage><pages>164-169</pages><issn>0174-304X</issn><eissn>1439-1899</eissn><coden>NRPDDB</coden><abstract>Abstract
Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles.The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.</abstract><cop>Stuttgart</cop><pub>Thieme</pub><pmid>3683758</pmid><doi>10.1055/s-2008-1052473</doi><tpages>6</tpages></addata></record> |
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| ispartof | Neuropediatrics, 1987-08, Vol.18 (3), p.164-169 |
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| language | eng |
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| subjects | Adolescent Adult Atrophy Biological and medical sciences Cataract - complications Cataract - genetics Cataract - physiopathology Cerebellar Diseases - complications Cerebellar Diseases - genetics Cerebellar Diseases - physiopathology Child Complex syndromes Humans Intellectual Disability - complications Intellectual Disability - genetics Intellectual Disability - physiopathology Male Medical genetics Medical sciences Muscular Diseases - complications Muscular Diseases - genetics Muscular Diseases - pathology Syndrome |
| title | A Syndrome with Juvenile Cataract, Cerebellar Atrophy, Mental Retardation and Myopathy |
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