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Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosis

dc.contributor.authorBota, S
dc.contributor.authorAlves, P
dc.contributor.authorConstantino, C
dc.contributor.authorMaia, R
dc.date.accessioned2023-09-11T12:06:31Z
dc.date.available2023-09-11T12:06:31Z
dc.date.issued2019
dc.description.abstractHypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for Strongyloides stercoralis, extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBMJ Case Rep . 2019 Apr 29;12(4):e227653pt_PT
dc.identifier.doi10.1136/bcr-2018-227653pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4691
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMJpt_PT
dc.subjectAdrenal Cortex Hormones / administration & dosagept_PT
dc.subjectAdrenal Cortex Hormones / therapeutic use*pt_PT
dc.subjectAfrica / epidemiologypt_PT
dc.subjectAlbendazole / administration & dosagept_PT
dc.subjectAlbendazole / therapeutic usept_PT
dc.subjectAnthelmintics / therapeutic usept_PT
dc.subjectAntiparasitic Agents / therapeutic usept_PT
dc.subjectBone Diseases / diagnostic imagingpt_PT
dc.subjectBone Diseases / pathologypt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectDrug Combinationspt_PT
dc.subjectHypereosinophilic Syndrome / drug therapypt_PT
dc.subjectHypereosinophilic Syndrome / genetics*pt_PT
dc.subjectHypereosinophilic Syndrome / pathologypt_PT
dc.subjectImatinib Mesylate / administration & dosagept_PT
dc.subjectImatinib Mesylate / therapeutic usept_PT
dc.subjectIvermectin / administration & dosagept_PT
dc.subjectIvermectin / therapeutic usept_PT
dc.subjectOncogene Proteins, Fusionpt_PT
dc.subjectProtein Kinase Inhibitors / therapeutic usept_PT
dc.subjectRare diseasespt_PT
dc.subjectReceptor, Platelet-Derived Growth Factor alphapt_PT
dc.subjectStrongyloides stercoralis / immunologypt_PT
dc.subjectStrongyloidiasis / complicationspt_PT
dc.subjectStrongyloidiasis / diagnosispt_PT
dc.subjectStrongyloidiasis / parasitology*pt_PT
dc.subjectTreatment Outcomept_PT
dc.subjectmRNA Cleavage and Polyadenylation Factorspt_PT
dc.subjectHDE IMApt_PT
dc.subjectHDE PEDpt_PT
dc.titleHypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4pt_PT
oaire.citation.startPagee227653pt_PT
oaire.citation.titleBMJ Case Reportspt_PT
oaire.citation.volume12pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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