MRI in a case of Sandhoff's disease
An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlarge...
Gespeichert in:
| Veröffentlicht in: | Neuroradiology 1996-05, Vol.38 (S1), p.S178-S180 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | S180 |
|---|---|
| container_issue | S1 |
| container_start_page | S178 |
| container_title | Neuroradiology |
| container_volume | 38 |
| creator | HITTMAIR, K WIMBERGER, D BERNERT, G MALLEK, R SCHINDLER, E. G |
| description | An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B. |
| doi_str_mv | 10.1007/BF02278152 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_78347097</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>78347097</sourcerecordid><originalsourceid>FETCH-LOGICAL-c243t-294a63765a0bf156ae01fe50960993d5544a2a1a5c29a5a67a27cfbfd7a6d4903</originalsourceid><addsrcrecordid>eNpFkEtLw0AUhQdRaq1u3AsBRUGI3juPTGapxWqhIvhYh5vJDEbyqJlm4b830lBXF875OFw-xk4RbhBA394vgHOdouJ7bIpS8BgNh302BeBpLIyEQ3YUwhcACC30hE3SFFGDmbLz59dlVDYRRZaCi1ofvVFTfLbeX4WoKIMb0mN24KkK7mS8M_axeHifP8Wrl8fl_G4VWy7FJuZGUiJ0oghyjyohB-idApOAMaJQSkrihKQsN6Qo0cS19bkvNCWFNCBm7HK7u-7a796FTVaXwbqqosa1fch0KuTwtB7A6y1ouzaEzvls3ZU1dT8ZQvZnJPs3MsBn42qf167YoaOCob8YewqWKt9RY8uwwwSiAiHEL6vgY90</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>78347097</pqid></control><display><type>article</type><title>MRI in a case of Sandhoff's disease</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>HITTMAIR, K ; WIMBERGER, D ; BERNERT, G ; MALLEK, R ; SCHINDLER, E. G</creator><creatorcontrib>HITTMAIR, K ; WIMBERGER, D ; BERNERT, G ; MALLEK, R ; SCHINDLER, E. G</creatorcontrib><description>An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.</description><identifier>ISSN: 0028-3940</identifier><identifier>EISSN: 1432-1920</identifier><identifier>DOI: 10.1007/BF02278152</identifier><identifier>PMID: 8811709</identifier><identifier>CODEN: NRDYAB</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Basal Ganglia - pathology ; Biological and medical sciences ; Brain - pathology ; Cerebral Cortex - pathology ; Errors of metabolism ; Fatal Outcome ; Female ; Humans ; Infant ; Lipids (lysosomal enzyme disorders, storage diseases) ; Magnetic Resonance Imaging ; Medical sciences ; Metabolic diseases ; Sandhoff Disease - diagnosis ; Thalamus - pathology</subject><ispartof>Neuroradiology, 1996-05, Vol.38 (S1), p.S178-S180</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c243t-294a63765a0bf156ae01fe50960993d5544a2a1a5c29a5a67a27cfbfd7a6d4903</citedby><cites>FETCH-LOGICAL-c243t-294a63765a0bf156ae01fe50960993d5544a2a1a5c29a5a67a27cfbfd7a6d4903</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=3115033$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8811709$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HITTMAIR, K</creatorcontrib><creatorcontrib>WIMBERGER, D</creatorcontrib><creatorcontrib>BERNERT, G</creatorcontrib><creatorcontrib>MALLEK, R</creatorcontrib><creatorcontrib>SCHINDLER, E. G</creatorcontrib><title>MRI in a case of Sandhoff's disease</title><title>Neuroradiology</title><addtitle>Neuroradiology</addtitle><description>An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.</description><subject>Basal Ganglia - pathology</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Cerebral Cortex - pathology</subject><subject>Errors of metabolism</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Magnetic Resonance Imaging</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Sandhoff Disease - diagnosis</subject><subject>Thalamus - pathology</subject><issn>0028-3940</issn><issn>1432-1920</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkEtLw0AUhQdRaq1u3AsBRUGI3juPTGapxWqhIvhYh5vJDEbyqJlm4b830lBXF875OFw-xk4RbhBA394vgHOdouJ7bIpS8BgNh302BeBpLIyEQ3YUwhcACC30hE3SFFGDmbLz59dlVDYRRZaCi1ofvVFTfLbeX4WoKIMb0mN24KkK7mS8M_axeHifP8Wrl8fl_G4VWy7FJuZGUiJ0oghyjyohB-idApOAMaJQSkrihKQsN6Qo0cS19bkvNCWFNCBm7HK7u-7a796FTVaXwbqqosa1fch0KuTwtB7A6y1ouzaEzvls3ZU1dT8ZQvZnJPs3MsBn42qf167YoaOCob8YewqWKt9RY8uwwwSiAiHEL6vgY90</recordid><startdate>19960501</startdate><enddate>19960501</enddate><creator>HITTMAIR, K</creator><creator>WIMBERGER, D</creator><creator>BERNERT, G</creator><creator>MALLEK, R</creator><creator>SCHINDLER, E. G</creator><general>Springer</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>19960501</creationdate><title>MRI in a case of Sandhoff's disease</title><author>HITTMAIR, K ; WIMBERGER, D ; BERNERT, G ; MALLEK, R ; SCHINDLER, E. G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c243t-294a63765a0bf156ae01fe50960993d5544a2a1a5c29a5a67a27cfbfd7a6d4903</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Basal Ganglia - pathology</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Cerebral Cortex - pathology</topic><topic>Errors of metabolism</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Magnetic Resonance Imaging</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Sandhoff Disease - diagnosis</topic><topic>Thalamus - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HITTMAIR, K</creatorcontrib><creatorcontrib>WIMBERGER, D</creatorcontrib><creatorcontrib>BERNERT, G</creatorcontrib><creatorcontrib>MALLEK, R</creatorcontrib><creatorcontrib>SCHINDLER, E. G</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>Neuroradiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HITTMAIR, K</au><au>WIMBERGER, D</au><au>BERNERT, G</au><au>MALLEK, R</au><au>SCHINDLER, E. G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MRI in a case of Sandhoff's disease</atitle><jtitle>Neuroradiology</jtitle><addtitle>Neuroradiology</addtitle><date>1996-05-01</date><risdate>1996</risdate><volume>38</volume><issue>S1</issue><spage>S178</spage><epage>S180</epage><pages>S178-S180</pages><issn>0028-3940</issn><eissn>1432-1920</eissn><coden>NRDYAB</coden><abstract>An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased white matter. The diagnosis of Sandhoff's disease was established by low serum levels of hexosaminidase A and B.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>8811709</pmid><doi>10.1007/BF02278152</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-3940 |
| ispartof | Neuroradiology, 1996-05, Vol.38 (S1), p.S178-S180 |
| issn | 0028-3940 1432-1920 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78347097 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Basal Ganglia - pathology Biological and medical sciences Brain - pathology Cerebral Cortex - pathology Errors of metabolism Fatal Outcome Female Humans Infant Lipids (lysosomal enzyme disorders, storage diseases) Magnetic Resonance Imaging Medical sciences Metabolic diseases Sandhoff Disease - diagnosis Thalamus - pathology |
| title | MRI in a case of Sandhoff's disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T12%3A29%3A44IST&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=MRI%20in%20a%20case%20of%20Sandhoff's%20disease&rft.jtitle=Neuroradiology&rft.au=HITTMAIR,%20K&rft.date=1996-05-01&rft.volume=38&rft.issue=S1&rft.spage=S178&rft.epage=S180&rft.pages=S178-S180&rft.issn=0028-3940&rft.eissn=1432-1920&rft.coden=NRDYAB&rft_id=info:doi/10.1007/BF02278152&rft_dat=%3Cproquest_cross%3E78347097%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=78347097&rft_id=info:pmid/8811709&rfr_iscdi=true |