Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
Deficient activity of lysosomal acid lipase (LAL) results in massive accumulation of cholesteryl esters and triglycerides in most tissues of the body. The deficiency state is expressed in two major phenotypes: Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD occurs in infancy and...
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| Veröffentlicht in: | Pathology, research and practice research and practice, 2004-01, Vol.200 (3), p.231-240 |
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| creator | Boldrini, Renata Devito, Rita Biselli, Roberto Filocamo, Mirella Bosman, Cesare |
| description | Deficient activity of lysosomal acid lipase (LAL) results in massive accumulation of cholesteryl esters and triglycerides in most tissues of the body. The deficiency state is expressed in two major phenotypes: Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD occurs in infancy and is nearly always fatal before the age of 1 year, whereas CESD can be more benign and may not be detected until adulthood. Since there are no specific routine laboratory observations that suggest these metabolic diseases, diagnosis is based on the clinical picture combined with LAL deficiency in cultured skin fibroblasts or peripheral lymphocytes. Both disorders are rather rare, considering that about a hundred of cases have been described up to now.
This study describes the histological and ultrastructural aspects disclosed by intestinal or liver biopsy in three cases of WD and in two cases of CESD. Furthermore, it emphasizes the role of morphological findings in pointing the diagnosis towards a metabolic storage disease. |
| doi_str_mv | 10.1016/j.prp.2003.11.001 |
| format | Article |
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This study describes the histological and ultrastructural aspects disclosed by intestinal or liver biopsy in three cases of WD and in two cases of CESD. Furthermore, it emphasizes the role of morphological findings in pointing the diagnosis towards a metabolic storage disease.</description><identifier>ISSN: 0344-0338</identifier><identifier>EISSN: 1618-0631</identifier><identifier>DOI: 10.1016/j.prp.2003.11.001</identifier><identifier>PMID: 15200275</identifier><language>eng</language><publisher>Germany: Elsevier GmbH</publisher><subject>Biopsy ; Cells, Cultured ; Child ; Child, Preschool ; Cholesterol Ester Storage Disease - enzymology ; Cholesterol Ester Storage Disease - pathology ; Cholesterol Esters - isolation & purification ; Cholesteryl ester storage disease (CESD) ; Female ; Fibroblasts - enzymology ; Fibroblasts - pathology ; Genetic defect ; Hepatocytes - enzymology ; Hepatocytes - ultrastructure ; Humans ; Infant ; Intestinal biopsy ; Intestinal Mucosa - enzymology ; Intestinal Mucosa - ultrastructure ; Jejunum - enzymology ; Jejunum - pathology ; Lipase - metabolism ; Liver - enzymology ; Liver - pathology ; Liver biopsy ; Lymphocytes - enzymology ; Lymphocytes - pathology ; Lysosomal acid lipase deficiency ; Lysosomes - enzymology ; Malabsorption ; Male ; Skin - enzymology ; Skin - pathology ; Wolman Disease - enzymology ; Wolman Disease - pathology ; Wolman's disease</subject><ispartof>Pathology, research and practice, 2004-01, Vol.200 (3), p.231-240</ispartof><rights>2004 Elsevier GmbH</rights><rights>Copyright Urban & Fischer Verlag 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-84b59aee3cf4e3efaa58e794370765b79023595b6d1a7950c2a81bba397c213d3</citedby><cites>FETCH-LOGICAL-c405t-84b59aee3cf4e3efaa58e794370765b79023595b6d1a7950c2a81bba397c213d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/205534071?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000,64390,64392,64394,72474</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15200275$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Boldrini, Renata</creatorcontrib><creatorcontrib>Devito, Rita</creatorcontrib><creatorcontrib>Biselli, Roberto</creatorcontrib><creatorcontrib>Filocamo, Mirella</creatorcontrib><creatorcontrib>Bosman, Cesare</creatorcontrib><title>Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy</title><title>Pathology, research and practice</title><addtitle>Pathol Res Pract</addtitle><description>Deficient activity of lysosomal acid lipase (LAL) results in massive accumulation of cholesteryl esters and triglycerides in most tissues of the body. The deficiency state is expressed in two major phenotypes: Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD occurs in infancy and is nearly always fatal before the age of 1 year, whereas CESD can be more benign and may not be detected until adulthood. Since there are no specific routine laboratory observations that suggest these metabolic diseases, diagnosis is based on the clinical picture combined with LAL deficiency in cultured skin fibroblasts or peripheral lymphocytes. Both disorders are rather rare, considering that about a hundred of cases have been described up to now.
This study describes the histological and ultrastructural aspects disclosed by intestinal or liver biopsy in three cases of WD and in two cases of CESD. Furthermore, it emphasizes the role of morphological findings in pointing the diagnosis towards a metabolic storage disease.</description><subject>Biopsy</subject><subject>Cells, Cultured</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cholesterol Ester Storage Disease - enzymology</subject><subject>Cholesterol Ester Storage Disease - pathology</subject><subject>Cholesterol Esters - isolation & purification</subject><subject>Cholesteryl ester storage disease (CESD)</subject><subject>Female</subject><subject>Fibroblasts - enzymology</subject><subject>Fibroblasts - pathology</subject><subject>Genetic defect</subject><subject>Hepatocytes - enzymology</subject><subject>Hepatocytes - ultrastructure</subject><subject>Humans</subject><subject>Infant</subject><subject>Intestinal biopsy</subject><subject>Intestinal Mucosa - enzymology</subject><subject>Intestinal Mucosa - ultrastructure</subject><subject>Jejunum - enzymology</subject><subject>Jejunum - pathology</subject><subject>Lipase - metabolism</subject><subject>Liver - enzymology</subject><subject>Liver - pathology</subject><subject>Liver biopsy</subject><subject>Lymphocytes - enzymology</subject><subject>Lymphocytes - pathology</subject><subject>Lysosomal acid lipase deficiency</subject><subject>Lysosomes - enzymology</subject><subject>Malabsorption</subject><subject>Male</subject><subject>Skin - enzymology</subject><subject>Skin - pathology</subject><subject>Wolman Disease - enzymology</subject><subject>Wolman Disease - pathology</subject><subject>Wolman's disease</subject><issn>0344-0338</issn><issn>1618-0631</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kU-L1TAUxYMoznP0A7iR4sJd671N0rS4ksF_MOBGcRnS9PZNHmlTk3aY9yH8zmbmPRRcuLpw8jsnl3sYe4lQIWDz9lAtcalqAF4hVgD4iO2wwbaEhuNjtgMuRAmctxfsWUoHAFAg8Cm7QJlNtZI79utH8JOZi8ElMokKMw-FvQme0krx6IuHWaQ1RLOnP9TgzH4OiYaiPxY3Lj_7sHfW-Af_5tdo0ho3u24xa3RnJjeb1YW5CGPh5jWnZuFEe3ebf-hdWNLxOXsyGp_oxXlesu8fP3y7-lxef_305er9dWkFyLVsRS87Q8TtKIjTaIxsSXWCK1CN7FUHNZed7JsBjeok2Nq02PeGd8rWyAd-yd6ccpcYfm55Gz25ZMl7M1PYklZ1vo5AkcHX_4CHsMW8etI1SMkFKMwQniAbQ0qRRr1EN5l41Aj6vih9yMqi74vSiDoXlT2vzsFbP9Hw13FuJgPvTgDlO9w6ijpZR7OlwUWyqx6C-0_8b0napok</recordid><startdate>20040101</startdate><enddate>20040101</enddate><creator>Boldrini, Renata</creator><creator>Devito, Rita</creator><creator>Biselli, Roberto</creator><creator>Filocamo, Mirella</creator><creator>Bosman, Cesare</creator><general>Elsevier GmbH</general><general>Elsevier Science Ltd</general><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>PADUT</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>20040101</creationdate><title>Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy</title><author>Boldrini, Renata ; Devito, Rita ; Biselli, Roberto ; Filocamo, Mirella ; Bosman, Cesare</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-84b59aee3cf4e3efaa58e794370765b79023595b6d1a7950c2a81bba397c213d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Biopsy</topic><topic>Cells, Cultured</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cholesterol Ester Storage Disease - enzymology</topic><topic>Cholesterol Ester Storage Disease - pathology</topic><topic>Cholesterol Esters - isolation & purification</topic><topic>Cholesteryl ester storage disease (CESD)</topic><topic>Female</topic><topic>Fibroblasts - enzymology</topic><topic>Fibroblasts - pathology</topic><topic>Genetic defect</topic><topic>Hepatocytes - enzymology</topic><topic>Hepatocytes - ultrastructure</topic><topic>Humans</topic><topic>Infant</topic><topic>Intestinal biopsy</topic><topic>Intestinal Mucosa - enzymology</topic><topic>Intestinal Mucosa - ultrastructure</topic><topic>Jejunum - enzymology</topic><topic>Jejunum - pathology</topic><topic>Lipase - metabolism</topic><topic>Liver - enzymology</topic><topic>Liver - pathology</topic><topic>Liver biopsy</topic><topic>Lymphocytes - enzymology</topic><topic>Lymphocytes - pathology</topic><topic>Lysosomal acid lipase deficiency</topic><topic>Lysosomes - enzymology</topic><topic>Malabsorption</topic><topic>Male</topic><topic>Skin - enzymology</topic><topic>Skin - pathology</topic><topic>Wolman Disease - enzymology</topic><topic>Wolman Disease - pathology</topic><topic>Wolman's disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Boldrini, Renata</creatorcontrib><creatorcontrib>Devito, Rita</creatorcontrib><creatorcontrib>Biselli, Roberto</creatorcontrib><creatorcontrib>Filocamo, Mirella</creatorcontrib><creatorcontrib>Bosman, Cesare</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection (ProQuest)</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Research Library China</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Pathology, research and practice</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Boldrini, Renata</au><au>Devito, Rita</au><au>Biselli, Roberto</au><au>Filocamo, Mirella</au><au>Bosman, Cesare</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy</atitle><jtitle>Pathology, research and practice</jtitle><addtitle>Pathol Res Pract</addtitle><date>2004-01-01</date><risdate>2004</risdate><volume>200</volume><issue>3</issue><spage>231</spage><epage>240</epage><pages>231-240</pages><issn>0344-0338</issn><eissn>1618-0631</eissn><abstract>Deficient activity of lysosomal acid lipase (LAL) results in massive accumulation of cholesteryl esters and triglycerides in most tissues of the body. The deficiency state is expressed in two major phenotypes: Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD occurs in infancy and is nearly always fatal before the age of 1 year, whereas CESD can be more benign and may not be detected until adulthood. Since there are no specific routine laboratory observations that suggest these metabolic diseases, diagnosis is based on the clinical picture combined with LAL deficiency in cultured skin fibroblasts or peripheral lymphocytes. Both disorders are rather rare, considering that about a hundred of cases have been described up to now.
This study describes the histological and ultrastructural aspects disclosed by intestinal or liver biopsy in three cases of WD and in two cases of CESD. Furthermore, it emphasizes the role of morphological findings in pointing the diagnosis towards a metabolic storage disease.</abstract><cop>Germany</cop><pub>Elsevier GmbH</pub><pmid>15200275</pmid><doi>10.1016/j.prp.2003.11.001</doi><tpages>10</tpages></addata></record> |
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| source | MEDLINE; Access via ScienceDirect (Elsevier); ProQuest Central UK/Ireland |
| subjects | Biopsy Cells, Cultured Child Child, Preschool Cholesterol Ester Storage Disease - enzymology Cholesterol Ester Storage Disease - pathology Cholesterol Esters - isolation & purification Cholesteryl ester storage disease (CESD) Female Fibroblasts - enzymology Fibroblasts - pathology Genetic defect Hepatocytes - enzymology Hepatocytes - ultrastructure Humans Infant Intestinal biopsy Intestinal Mucosa - enzymology Intestinal Mucosa - ultrastructure Jejunum - enzymology Jejunum - pathology Lipase - metabolism Liver - enzymology Liver - pathology Liver biopsy Lymphocytes - enzymology Lymphocytes - pathology Lysosomal acid lipase deficiency Lysosomes - enzymology Malabsorption Male Skin - enzymology Skin - pathology Wolman Disease - enzymology Wolman Disease - pathology Wolman's disease |
| title | Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy |
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