Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/2894 |
Resumo: | Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS. |
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Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan SyndromeAutoantibodiesBlood PlateletsFemaleHumansInfant, NewbornIsoantibodiesNoonan SyndromePlatelet CountRh IsoimmunizationThrombocytopeniaHDE HEM PEDFetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.Taylor & FrancisRepositório do Centro Hospitalar Universitário de Lisboa Central, EPESalva, IBatalha, SMaia, RKjollerstrom, P2018-02-15T10:27:08Z2016-062016-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2894engPlatelets. 2016 Jun;27(4):381-210.3109/09537104.2015.1107034info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:40:12Zoai:repositorio.chlc.min-saude.pt:10400.17/2894Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:13.388208Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
title |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
spellingShingle |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome Salva, I Autoantibodies Blood Platelets Female Humans Infant, Newborn Isoantibodies Noonan Syndrome Platelet Count Rh Isoimmunization Thrombocytopenia HDE HEM PED |
title_short |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
title_full |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
title_fullStr |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
title_full_unstemmed |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
title_sort |
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction and Noonan Syndrome |
author |
Salva, I |
author_facet |
Salva, I Batalha, S Maia, R Kjollerstrom, P |
author_role |
author |
author2 |
Batalha, S Maia, R Kjollerstrom, P |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Salva, I Batalha, S Maia, R Kjollerstrom, P |
dc.subject.por.fl_str_mv |
Autoantibodies Blood Platelets Female Humans Infant, Newborn Isoantibodies Noonan Syndrome Platelet Count Rh Isoimmunization Thrombocytopenia HDE HEM PED |
topic |
Autoantibodies Blood Platelets Female Humans Infant, Newborn Isoantibodies Noonan Syndrome Platelet Count Rh Isoimmunization Thrombocytopenia HDE HEM PED |
description |
Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-06 2016-06-01T00:00:00Z 2018-02-15T10:27:08Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/2894 |
url |
http://hdl.handle.net/10400.17/2894 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Platelets. 2016 Jun;27(4):381-2 10.3109/09537104.2015.1107034 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Taylor & Francis |
publisher.none.fl_str_mv |
Taylor & Francis |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799131298708586496 |