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Imaging clinical case

2020-03Journal article Open access
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dc.contributor.authorBatista, Ana Rita
dc.contributor.authorValpaços, Catarina
dc.contributor.authorSousa, Pedro
dc.contributor.authorCosta, Teresa
dc.contributor.authorMota, Conceição
dc.contributor.authorReis, Armando
dc.contributor.authorFaria, Maria Do Sameiro
dc.date.accessioned2021-11-16T11:23:32Z
dc.date.available2021-11-16T11:23:32Z
dc.date.issued2020-03
dc.description.abstractHere in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study. VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBatista AR, Valpaços C, Sousa P, Costa T, Mota C, Reis A, Sameiro-Faria M, Nascer e Crescer - Birth and Growth Medical Journal 2020;29(1): 62-64. doi:10.25753/BirthGrowthMJ.v29.i1.18021pt_PT
dc.identifier.doi10.25753/BirthGrowthMJ.v29.i1.18021pt_PT
dc.identifier.issn2183-9417
dc.identifier.urihttp://hdl.handle.net/10400.16/2551
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherCentro Hospitalar Universitário do Portopt_PT
dc.relation.publisherversionhttps://revistas.rcaap.pt/nascercrescer/article/view/18021pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectHemangioblastoma of the central nervous systempt_PT
dc.subjectrenal cell carcinoma hemovitreouspt_PT
dc.subjectVon Hippel-Lindaupt_PT
dc.titleImaging clinical casept_PT
dc.title.alternativeCaso clínico imagiológicopt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpt_PT
oaire.citation.endPage64pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage62pt_PT
oaire.citation.titleNascer e Crescer - Birth and Growth Medical Journalpt_PT
oaire.citation.volume29pt_PT
person.familyNameFaria
person.givenNameMaria do Sameiro
person.identifier.ciencia-idCD12-BF24-65FE
person.identifier.orcid0000-0002-8061-9289
person.identifier.scopus-author-id6507433703
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationad1e4a67-acf1-4b16-9ad8-659ad9fa5bd3
relation.isAuthorOfPublication.latestForDiscoveryad1e4a67-acf1-4b16-9ad8-659ad9fa5bd3

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