Nieman-Pick’s disease

Detalhes bibliográficos
Autor(a) principal: Silva de Athayde Bohrer, Mauro
Data de Publicação: 2022
Outros Autores: Meurer, Luise, Varela Gonzaga, Rafael, Rasia de Mello, Letícia, M. Gleisner, Maria Luiza
Tipo de documento: Artigo
Idioma: por
Título da fonte: Clinical and Biomedical Research
Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/124760
Resumo: This article presents and discusses the case of a 2-month old boy who came to Hospital de Clínicas de Porto Alegre with a history of jaundice persisting for 45 days. He presented with regular general state, no fever, important jaundice, low weight/height ratio, abdominal distention and enlargement of the liver and spleen. Abdominal ultrasonography and hepatobiliary scintigraphy were normal. The pacient stayed at HCPA for 26 days, and presented a respiratory dysfunction which was interpreted as pneumonia. He was treated and discharged in good state, and was scheduled for follow-up at the outpatient clinic. One week after discharge, he developed fever, respiratory dysfunction, bleeding, ascite, failure of multiple systems, and died.
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spelling Nieman-Pick’s diseaseDoença de Nieman-PickThis article presents and discusses the case of a 2-month old boy who came to Hospital de Clínicas de Porto Alegre with a history of jaundice persisting for 45 days. He presented with regular general state, no fever, important jaundice, low weight/height ratio, abdominal distention and enlargement of the liver and spleen. Abdominal ultrasonography and hepatobiliary scintigraphy were normal. The pacient stayed at HCPA for 26 days, and presented a respiratory dysfunction which was interpreted as pneumonia. He was treated and discharged in good state, and was scheduled for follow-up at the outpatient clinic. One week after discharge, he developed fever, respiratory dysfunction, bleeding, ascite, failure of multiple systems, and died.O presente artigo apresenta e discute o caso de um paciente masculino, de 2 meses de idade, que foi encaminhado para o Hospital de Clínicas de Porto Alegre com história de icterícia persistente há 45 dias, apresentando-se em regular estado geral, afebril, com icterícia importante, desproporção peso/altura, abdômen distendido e fígado e baço palpáveis. Ecografia abdominal e cintilografia das vias biliares eram normais. O paciente permaneceu 26 dias no hospital para investigação, onde apresentou quadro respiratório diagnosticado como pneumonia, recebendo alta hospitalar em bom estado. Foi encaminhado para o ambulatório para prosseguir a investigação. Uma semana após a alta, apresentou febre, disfunção respiratória, sangramento difuso, ascite e falência de múltiplos órgãos, evoluindo para o óbito.HCPA/FAMED/UFRGS2022-05-25info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/124760Clinical & Biomedical Research; Vol. 18 No. 2 (1998): Revista HCPAClinical and Biomedical Research; v. 18 n. 2 (1998): Revista HCPA2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSporhttps://seer.ufrgs.br/index.php/hcpa/article/view/124760/84967http://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessSilva de Athayde Bohrer, Mauro Meurer, Luise Varela Gonzaga, RafaelRasia de Mello, Letícia M. Gleisner, Maria Luiza 2022-09-16T16:32:21Zoai:seer.ufrgs.br:article/124760Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2022-09-16T16:32:21Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.none.fl_str_mv Nieman-Pick’s disease
Doença de Nieman-Pick
title Nieman-Pick’s disease
spellingShingle Nieman-Pick’s disease
Silva de Athayde Bohrer, Mauro
title_short Nieman-Pick’s disease
title_full Nieman-Pick’s disease
title_fullStr Nieman-Pick’s disease
title_full_unstemmed Nieman-Pick’s disease
title_sort Nieman-Pick’s disease
author Silva de Athayde Bohrer, Mauro
author_facet Silva de Athayde Bohrer, Mauro
Meurer, Luise
Varela Gonzaga, Rafael
Rasia de Mello, Letícia
M. Gleisner, Maria Luiza
author_role author
author2 Meurer, Luise
Varela Gonzaga, Rafael
Rasia de Mello, Letícia
M. Gleisner, Maria Luiza
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Silva de Athayde Bohrer, Mauro
Meurer, Luise
Varela Gonzaga, Rafael
Rasia de Mello, Letícia
M. Gleisner, Maria Luiza
description This article presents and discusses the case of a 2-month old boy who came to Hospital de Clínicas de Porto Alegre with a history of jaundice persisting for 45 days. He presented with regular general state, no fever, important jaundice, low weight/height ratio, abdominal distention and enlargement of the liver and spleen. Abdominal ultrasonography and hepatobiliary scintigraphy were normal. The pacient stayed at HCPA for 26 days, and presented a respiratory dysfunction which was interpreted as pneumonia. He was treated and discharged in good state, and was scheduled for follow-up at the outpatient clinic. One week after discharge, he developed fever, respiratory dysfunction, bleeding, ascite, failure of multiple systems, and died.
publishDate 2022
dc.date.none.fl_str_mv 2022-05-25
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/124760
url https://seer.ufrgs.br/index.php/hcpa/article/view/124760
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/124760/84967
dc.rights.driver.fl_str_mv http://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv HCPA/FAMED/UFRGS
publisher.none.fl_str_mv HCPA/FAMED/UFRGS
dc.source.none.fl_str_mv Clinical & Biomedical Research; Vol. 18 No. 2 (1998): Revista HCPA
Clinical and Biomedical Research; v. 18 n. 2 (1998): Revista HCPA
2357-9730
reponame:Clinical and Biomedical Research
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Clinical and Biomedical Research
collection Clinical and Biomedical Research
repository.name.fl_str_mv Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv ||cbr@hcpa.edu.br
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