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dc.contributor.authorMedina Canon, Astrid
dc.contributor.authorOppenheim, Iam M.
dc.contributor.authorBarcenas, William
dc.contributor.authorGroden, Catherine
dc.contributor.authorGoker-Alpan, Ozlem
dc.contributor.authorResnik, Charles S.
dc.contributor.authorSidransky, Ellen
dc.date.accessioned2021-07-09T19:48:51Z
dc.publisherInternational Skeletal Societyspa
dc.description.abstractGaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD—bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.eng
dc.date.issued2011-09-20
dc.sourcehttps://link.springer.com/content/pdf/10.1007/s00256-011-1260-x.pdfspa
dc.format.extent5 p.spa
dc.titleBilateral symmetrical cortical osteolytic lesions in two patients with Gaucher diseaseeng
dc.format.mimetypeapplication/pdfspa
dc.typeArtículo de revistaspa
dc.date.available2021-07-09T19:48:51Z
dc.identifier.doi10.1007/s00256-011-1260-x
dc.identifier.urihttps://repositorio.fucsalud.edu.co/handle/001/1592
dc.language.isoengspa
dc.relation.ispartofSkeletal Radiology ISSN: 1432-2161 Vol. 40 Núm. 12(2011)
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.creativecommonsAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)spa
dc.rights.urihttps://creativecommons.org/licenses/by-nd/4.0/spa
dc.subject.proposalType 3 Gaucher diseaseeng
dc.subject.proposalOsteolyticeng
dc.subject.proposalGenotype L444P/L444Peng
dc.subject.proposalGlucocerebrosidaseeng
dc.subject.proposalGaucher cellseng
dc.type.coarhttp://purl.org/coar/resource_type/c_6501spa
dc.type.driverinfo:eu-repo/semantics/articlespa
dc.type.versioninfo:eu-repo/semantics/publishedVersionspa
dc.subject.decsEnfermedad de gaucher
dc.subject.decsAdolescente
dc.subject.decsGenotipo - Clasificación
dc.subject.decsGlucosilceramidasa
dc.publisher.placeBerlín, Alemaniaspa
dc.relation.citationendpage1615spa
dc.relation.citationissue12spa
dc.relation.citationstartpage1611spa
dc.relation.citationvolume40spa
dc.relation.ispartofjournalSkeletal Radiologyspa
dc.type.contentTextspa
dc.type.redcolhttps://purl.org/redcol/resource_type/WPspa
dc.type.coarversionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa


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