Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report
Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a mo...
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| Veröffentlicht in: | Cirugia y cirujanos 2006-11, Vol.74 (6), p.477-481 |
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| container_title | Cirugia y cirujanos |
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| creator | Villegas-Castrejón, Hilda Hernández-Pérez, Alma Delia Peralta, Sergio Vázquez-Escamilla, Jesús Reyes-Marín, Baltasar |
| description | Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy. |
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Case report</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Villegas-Castrejón, Hilda ; Hernández-Pérez, Alma Delia ; Peralta, Sergio ; Vázquez-Escamilla, Jesús ; Reyes-Marín, Baltasar</creator><creatorcontrib>Villegas-Castrejón, Hilda ; Hernández-Pérez, Alma Delia ; Peralta, Sergio ; Vázquez-Escamilla, Jesús ; Reyes-Marín, Baltasar</creatorcontrib><description>Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.</description><identifier>ISSN: 0009-7411</identifier><identifier>PMID: 17244506</identifier><language>spa</language><publisher>Mexico</publisher><subject>Child ; Crystallization ; Female ; Humans ; Inclusion Bodies - ultrastructure ; Leukodystrophy, Globoid Cell - diagnosis ; Leukodystrophy, Globoid Cell - pathology ; Microscopy, Electron, Transmission ; Myelin Sheath - ultrastructure ; Schwann Cells - ultrastructure ; Sural Nerve - ultrastructure ; Time Factors</subject><ispartof>Cirugia y cirujanos, 2006-11, Vol.74 (6), p.477-481</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17244506$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Villegas-Castrejón, Hilda</creatorcontrib><creatorcontrib>Hernández-Pérez, Alma Delia</creatorcontrib><creatorcontrib>Peralta, Sergio</creatorcontrib><creatorcontrib>Vázquez-Escamilla, Jesús</creatorcontrib><creatorcontrib>Reyes-Marín, Baltasar</creatorcontrib><title>Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report</title><title>Cirugia y cirujanos</title><addtitle>Cir Cir</addtitle><description>Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.</description><subject>Child</subject><subject>Crystallization</subject><subject>Female</subject><subject>Humans</subject><subject>Inclusion Bodies - ultrastructure</subject><subject>Leukodystrophy, Globoid Cell - diagnosis</subject><subject>Leukodystrophy, Globoid Cell - pathology</subject><subject>Microscopy, Electron, Transmission</subject><subject>Myelin Sheath - ultrastructure</subject><subject>Schwann Cells - ultrastructure</subject><subject>Sural Nerve - ultrastructure</subject><subject>Time Factors</subject><issn>0009-7411</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1UE1PhDAU7EHjruhfMD3pCfOgBcrRoK7GTbysZ9KWh6JAax8c-PdiXE-T-chkMidsCwBlXMgk2bBzos-VqgLkGdskRSplBvmWvd13-n101BF3LX8J2hi8Id7j_OWahabg_MfCzcKnoEcaOqLOjRx7tKs18qGzwZF1frnllSbkAb0L0wU7bXVPeHnEiB0eHw7VU7x_3T1Xd_vYZzKPTZlbA2ghNTqFsi1NkZepSLTRMjMKULWN_tUzWVibKQWqwUS1CFYoBBARu_6r9cF9z0hTvQ602Pd6RDdTnSsBAtbKiF0dg7MZsKl96AYdlvr_B_EDIa1Z5Q</recordid><startdate>200611</startdate><enddate>200611</enddate><creator>Villegas-Castrejón, Hilda</creator><creator>Hernández-Pérez, Alma Delia</creator><creator>Peralta, Sergio</creator><creator>Vázquez-Escamilla, Jesús</creator><creator>Reyes-Marín, Baltasar</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200611</creationdate><title>Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report</title><author>Villegas-Castrejón, Hilda ; Hernández-Pérez, Alma Delia ; Peralta, Sergio ; Vázquez-Escamilla, Jesús ; Reyes-Marín, Baltasar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p546-b96cb0ec02ba209f9b769231aba45b80e8fda09f9547cc58808de18fe0c38e003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>spa</language><creationdate>2006</creationdate><topic>Child</topic><topic>Crystallization</topic><topic>Female</topic><topic>Humans</topic><topic>Inclusion Bodies - ultrastructure</topic><topic>Leukodystrophy, Globoid Cell - diagnosis</topic><topic>Leukodystrophy, Globoid Cell - pathology</topic><topic>Microscopy, Electron, Transmission</topic><topic>Myelin Sheath - ultrastructure</topic><topic>Schwann Cells - ultrastructure</topic><topic>Sural Nerve - ultrastructure</topic><topic>Time Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Villegas-Castrejón, Hilda</creatorcontrib><creatorcontrib>Hernández-Pérez, Alma Delia</creatorcontrib><creatorcontrib>Peralta, Sergio</creatorcontrib><creatorcontrib>Vázquez-Escamilla, Jesús</creatorcontrib><creatorcontrib>Reyes-Marín, Baltasar</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Cirugia y cirujanos</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Villegas-Castrejón, Hilda</au><au>Hernández-Pérez, Alma Delia</au><au>Peralta, Sergio</au><au>Vázquez-Escamilla, Jesús</au><au>Reyes-Marín, Baltasar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report</atitle><jtitle>Cirugia y cirujanos</jtitle><addtitle>Cir Cir</addtitle><date>2006-11</date><risdate>2006</risdate><volume>74</volume><issue>6</issue><spage>477</spage><epage>481</epage><pages>477-481</pages><issn>0009-7411</issn><abstract>Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.</abstract><cop>Mexico</cop><pmid>17244506</pmid><tpages>5</tpages></addata></record> |
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| ispartof | Cirugia y cirujanos, 2006-11, Vol.74 (6), p.477-481 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Child Crystallization Female Humans Inclusion Bodies - ultrastructure Leukodystrophy, Globoid Cell - diagnosis Leukodystrophy, Globoid Cell - pathology Microscopy, Electron, Transmission Myelin Sheath - ultrastructure Schwann Cells - ultrastructure Sural Nerve - ultrastructure Time Factors |
| title | Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report |
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