Publication
Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosis
dc.contributor.author | Bota, S | |
dc.contributor.author | Alves, P | |
dc.contributor.author | Constantino, C | |
dc.contributor.author | Maia, R | |
dc.date.accessioned | 2023-09-11T12:06:31Z | |
dc.date.available | 2023-09-11T12:06:31Z | |
dc.date.issued | 2019 | |
dc.description.abstract | Hypereosinophilic 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.version | info:eu-repo/semantics/publishedVersion | pt_PT |
dc.identifier.citation | BMJ Case Rep . 2019 Apr 29;12(4):e227653 | pt_PT |
dc.identifier.doi | 10.1136/bcr-2018-227653 | pt_PT |
dc.identifier.uri | http://hdl.handle.net/10400.17/4691 | |
dc.language.iso | eng | pt_PT |
dc.peerreviewed | yes | pt_PT |
dc.publisher | BMJ | pt_PT |
dc.subject | Adrenal Cortex Hormones / administration & dosage | pt_PT |
dc.subject | Adrenal Cortex Hormones / therapeutic use* | pt_PT |
dc.subject | Africa / epidemiology | pt_PT |
dc.subject | Albendazole / administration & dosage | pt_PT |
dc.subject | Albendazole / therapeutic use | pt_PT |
dc.subject | Anthelmintics / therapeutic use | pt_PT |
dc.subject | Antiparasitic Agents / therapeutic use | pt_PT |
dc.subject | Bone Diseases / diagnostic imaging | pt_PT |
dc.subject | Bone Diseases / pathology | pt_PT |
dc.subject | Child, Preschool | pt_PT |
dc.subject | Drug Combinations | pt_PT |
dc.subject | Hypereosinophilic Syndrome / drug therapy | pt_PT |
dc.subject | Hypereosinophilic Syndrome / genetics* | pt_PT |
dc.subject | Hypereosinophilic Syndrome / pathology | pt_PT |
dc.subject | Imatinib Mesylate / administration & dosage | pt_PT |
dc.subject | Imatinib Mesylate / therapeutic use | pt_PT |
dc.subject | Ivermectin / administration & dosage | pt_PT |
dc.subject | Ivermectin / therapeutic use | pt_PT |
dc.subject | Oncogene Proteins, Fusion | pt_PT |
dc.subject | Protein Kinase Inhibitors / therapeutic use | pt_PT |
dc.subject | Rare diseases | pt_PT |
dc.subject | Receptor, Platelet-Derived Growth Factor alpha | pt_PT |
dc.subject | Strongyloides stercoralis / immunology | pt_PT |
dc.subject | Strongyloidiasis / complications | pt_PT |
dc.subject | Strongyloidiasis / diagnosis | pt_PT |
dc.subject | Strongyloidiasis / parasitology* | pt_PT |
dc.subject | Treatment Outcome | pt_PT |
dc.subject | mRNA Cleavage and Polyadenylation Factors | pt_PT |
dc.subject | HDE IMA | pt_PT |
dc.subject | HDE PED | pt_PT |
dc.title | Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosis | pt_PT |
dc.type | journal article | |
dspace.entity.type | Publication | |
oaire.citation.issue | 4 | pt_PT |
oaire.citation.startPage | e227653 | pt_PT |
oaire.citation.title | BMJ Case Reports | pt_PT |
oaire.citation.volume | 12 | pt_PT |
rcaap.rights | openAccess | pt_PT |
rcaap.type | article | pt_PT |