Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.48750/acv.9 |
Resumo: | Introduction: Neurofibromatosis type1 (NF1), also known as Von Recklinghausen disease, is caused by an autosomal dominant abnormality in chromosome 17, responsible for the impaired production of neurofibromin. The presence of cafe-au-lait spots, neurofibromas and iris hamartomas are cardinal signs of the disease. The occurrence of a fatal or near-fatal haemorrhage is reported in pleural, peritoneal, retroperitoneum, soft tissues of the trunk and extremities. The massive hemorrhage is caused by rupture of friable blood vessels as a consequence of impaired expression of neurofibromin in the arteries and veins. One of the most serious clinical consequences described in NF1 is the occurrence of severe haemorrhage and difficulty achieving hemostatic control. Objectives: We report a case of spontaneous massive cervical hematoma and hemothorax as a result of venous rupture of innominate, subclavian and subclavian-jugular veins junction in a NF1 patient. Case report: A 51 year-old woman with past history of neurofibromatosis type I and hypertension was admitted to the emergency department with an haemorrhagic shock in the clinical set of a sudden right shoulder pain and a expansive right cervical swelling. The CT angiography showed a massive hematoma, involving the right cervical, retropharyngeal-prevertebral, right supraclavicular and the mediastinum regions, associated with an important right haemothorax. Through a supraclavicular approach, it was performed hematoma drainage and identification of bleeding sources including: brachycephalic venous trunk, the subclavian vein and subclavian- -jugular confluence. It was required clavicle section to achieve haemorragic control and suture the ruptured venous trunks. A VATS was performed for haemothorax drainage and confirmed the absence of active bleeding. A postoperative CT angiography confirmed the resolution of the right cervical hematoma and absence of contrast extravasation. Additionally it was found a saccular aneurysm of the right vertebral artery corrected later by embolization with coils. Conclusion: NF1 is a genetic disorder that rarely can be associated with life-threatening haemorrhage. The vasculopathy is an underestimated complication with limited recognition in NF1. The excessive vascular friability with spontaneous bleeding in NF1 is rare and can be fatal, requiring a timely diagnosis and prompt treatment. |
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Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type IHematoma cervical e hemotórax espontâneos no contexto de neurofibromatose tipo INeurofibromatose tipo 1Doenc¸a de von RecklinghausenHemorragia espontâneaHemotóraxNeurofibromatosis type 1Von Recklinghausen diseaseAcute hemorrhageHemothoraxIntroduction: Neurofibromatosis type1 (NF1), also known as Von Recklinghausen disease, is caused by an autosomal dominant abnormality in chromosome 17, responsible for the impaired production of neurofibromin. The presence of cafe-au-lait spots, neurofibromas and iris hamartomas are cardinal signs of the disease. The occurrence of a fatal or near-fatal haemorrhage is reported in pleural, peritoneal, retroperitoneum, soft tissues of the trunk and extremities. The massive hemorrhage is caused by rupture of friable blood vessels as a consequence of impaired expression of neurofibromin in the arteries and veins. One of the most serious clinical consequences described in NF1 is the occurrence of severe haemorrhage and difficulty achieving hemostatic control. Objectives: We report a case of spontaneous massive cervical hematoma and hemothorax as a result of venous rupture of innominate, subclavian and subclavian-jugular veins junction in a NF1 patient. Case report: A 51 year-old woman with past history of neurofibromatosis type I and hypertension was admitted to the emergency department with an haemorrhagic shock in the clinical set of a sudden right shoulder pain and a expansive right cervical swelling. The CT angiography showed a massive hematoma, involving the right cervical, retropharyngeal-prevertebral, right supraclavicular and the mediastinum regions, associated with an important right haemothorax. Through a supraclavicular approach, it was performed hematoma drainage and identification of bleeding sources including: brachycephalic venous trunk, the subclavian vein and subclavian- -jugular confluence. It was required clavicle section to achieve haemorragic control and suture the ruptured venous trunks. A VATS was performed for haemothorax drainage and confirmed the absence of active bleeding. A postoperative CT angiography confirmed the resolution of the right cervical hematoma and absence of contrast extravasation. Additionally it was found a saccular aneurysm of the right vertebral artery corrected later by embolization with coils. Conclusion: NF1 is a genetic disorder that rarely can be associated with life-threatening haemorrhage. The vasculopathy is an underestimated complication with limited recognition in NF1. The excessive vascular friability with spontaneous bleeding in NF1 is rare and can be fatal, requiring a timely diagnosis and prompt treatment.Introdução: A neurofibromatose tipo I (NF1), também designada doença de Von Recklinghausen, é causada por uma anormalidade no cromossoma 17, de transmissão autossómica dominante, responsável pela produção deficiente de neurofibromina. Caracteriza-se por displasia nos tecidos mesodérmicos e neuroectodérmicos, e tem uma incidência de um para 2.500-3.300 nascimentos. A presença de manchas café-au-lait, neurofibromas cutâneos e hamartomas da íris são sinais cardinais da doença. Primeiramente descrita por Ruebi em 1945, a patologia vascular é uma complicação subestimada e pouco reconhecida na NF1. A ocorrência de hemorragia fatal ou quase fatal está reportada ocasionalmente nas cavidades pleural, abdominal, retroperitoneu, tecidos moles do tronco e extremidades. Esta hemorragia massiva é causada pela rutura de vasos sanguíneos friáveis, característicos pelos níveis reduzidos de neurofibromina e consequente proliferação endotelial e de músculo liso nas artérias e veias. Uma das consequências clínicas mais sérias descritas na NF1 é a ocorrência de hemorragia severa e dificuldade em alcançar controlo hemostático. Objetivo: Exposição de caso clínico de extenso hematoma cervical e hemotórax espontâneos por rutura troncos venosos braquiocefálico, veia subclávia e junção subclávio-jugular em doente com NF1. Caso clínico: Relata-se caso clínico de mulher de 51 anos, com antecedentes conhecidos de NF1 e hipertensão arterial. Foi admitida no serviço de urgência em choque hipovolémico hemorrágico, no contexto de dor súbita no ombro direito e volumosa tumefação cervical direita. Em angioTC foi objetivado volumoso hematoma, envolvendo a região cervical direita, a região retrofaríngea-prevertebral, escavado supraclavicular direito, mediastino, associando a importante hemotórax direito. Procedeu-se a abordagem supraclavicular com drenagem do hematoma e identificação de fontes hemorrágicas, nomeadamente: tronco venoso braquicefálico, veia subclávia e confluência subclávio-jugular. Foi necessária secção da clavícula para controlo hemorrágico e realização de rafias dos troncos venosos com prolene. Intraoperatoriamente, foi evidente a fragilidade e friabilidade excessiva dos vasos sanguíneos. Após controlo hemorrágico, foi realizada videotoracoscopia para drenagem de hemotórax e evacuação de coágulos, confirmando-se a ausência de hemorragia ativa. No pós-operatório a doente recuperou estabilidade hemodinâmica, sem evidência analítica de queda de hemoglobina. Realizou-se angioTC, onde se confirmou franca melhoria do hematoma cervical direito e retrofaríngeo em critérios quantitativos, e ausência de extravasamento de contraste. Objetivou-se adicionalmente aneurisma sacular da artéria vertebral direita, corrigido ulteriormente através de embolização com coils. Conclusão: A NF1 é uma doença genética que raramente se pode associar a hemorragia life-threatening. A vasculopatia é uma complicação subestimada e pouco reconhecida na NF1. A existência de friabilidade vascular excessiva com consequente hemorragia espontânea na NF1 é rara e pode ser fatal, exigindo um diagnóstico rápido e tratamento atempado.Sociedade Portuguesa de Angiologia e Cirurgia Vascular2016-12-16T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://doi.org/10.48750/acv.9oai:ojs.acvjournal.com:article/9Angiologia e Cirurgia Vascular; Vol. 12 No. 3 (2016): September; 205-210Angiologia e Cirurgia Vascular; Vol. 12 N.º 3 (2016): Setembro; 205-2102183-00961646-706Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttp://acvjournal.com/index.php/acv/article/view/9https://doi.org/10.48750/acv.9http://acvjournal.com/index.php/acv/article/view/9/12Copyright (c) 2016 Angiologia e Cirurgia Vascularinfo:eu-repo/semantics/openAccessQuintas, AnitaAragão Morais, JoséMartins, JoãoBastos Gonçalves, FredericoRodrigues, GonçaloAbreu, RodolfoFerreira, RitaCamacho, NelsonFerreira, Maria EmíliaAlbuquerque e Castro, JoãoMota Capitão, Luís2022-05-23T15:09:57Zoai:ojs.acvjournal.com:article/9Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T14:57:26.129333Repositório 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 |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I Hematoma cervical e hemotórax espontâneos no contexto de neurofibromatose tipo I |
title |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
spellingShingle |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I Quintas, Anita Neurofibromatose tipo 1 Doenc¸a de von Recklinghausen Hemorragia espontânea Hemotórax Neurofibromatosis type 1 Von Recklinghausen disease Acute hemorrhage Hemothorax |
title_short |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
title_full |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
title_fullStr |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
title_full_unstemmed |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
title_sort |
Spontaneous acute cervical hematoma and hemothorax in the set of neurofibromatosis type I |
author |
Quintas, Anita |
author_facet |
Quintas, Anita Aragão Morais, José Martins, João Bastos Gonçalves, Frederico Rodrigues, Gonçalo Abreu, Rodolfo Ferreira, Rita Camacho, Nelson Ferreira, Maria Emília Albuquerque e Castro, João Mota Capitão, Luís |
author_role |
author |
author2 |
Aragão Morais, José Martins, João Bastos Gonçalves, Frederico Rodrigues, Gonçalo Abreu, Rodolfo Ferreira, Rita Camacho, Nelson Ferreira, Maria Emília Albuquerque e Castro, João Mota Capitão, Luís |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Quintas, Anita Aragão Morais, José Martins, João Bastos Gonçalves, Frederico Rodrigues, Gonçalo Abreu, Rodolfo Ferreira, Rita Camacho, Nelson Ferreira, Maria Emília Albuquerque e Castro, João Mota Capitão, Luís |
dc.subject.por.fl_str_mv |
Neurofibromatose tipo 1 Doenc¸a de von Recklinghausen Hemorragia espontânea Hemotórax Neurofibromatosis type 1 Von Recklinghausen disease Acute hemorrhage Hemothorax |
topic |
Neurofibromatose tipo 1 Doenc¸a de von Recklinghausen Hemorragia espontânea Hemotórax Neurofibromatosis type 1 Von Recklinghausen disease Acute hemorrhage Hemothorax |
description |
Introduction: Neurofibromatosis type1 (NF1), also known as Von Recklinghausen disease, is caused by an autosomal dominant abnormality in chromosome 17, responsible for the impaired production of neurofibromin. The presence of cafe-au-lait spots, neurofibromas and iris hamartomas are cardinal signs of the disease. The occurrence of a fatal or near-fatal haemorrhage is reported in pleural, peritoneal, retroperitoneum, soft tissues of the trunk and extremities. The massive hemorrhage is caused by rupture of friable blood vessels as a consequence of impaired expression of neurofibromin in the arteries and veins. One of the most serious clinical consequences described in NF1 is the occurrence of severe haemorrhage and difficulty achieving hemostatic control. Objectives: We report a case of spontaneous massive cervical hematoma and hemothorax as a result of venous rupture of innominate, subclavian and subclavian-jugular veins junction in a NF1 patient. Case report: A 51 year-old woman with past history of neurofibromatosis type I and hypertension was admitted to the emergency department with an haemorrhagic shock in the clinical set of a sudden right shoulder pain and a expansive right cervical swelling. The CT angiography showed a massive hematoma, involving the right cervical, retropharyngeal-prevertebral, right supraclavicular and the mediastinum regions, associated with an important right haemothorax. Through a supraclavicular approach, it was performed hematoma drainage and identification of bleeding sources including: brachycephalic venous trunk, the subclavian vein and subclavian- -jugular confluence. It was required clavicle section to achieve haemorragic control and suture the ruptured venous trunks. A VATS was performed for haemothorax drainage and confirmed the absence of active bleeding. A postoperative CT angiography confirmed the resolution of the right cervical hematoma and absence of contrast extravasation. Additionally it was found a saccular aneurysm of the right vertebral artery corrected later by embolization with coils. Conclusion: NF1 is a genetic disorder that rarely can be associated with life-threatening haemorrhage. The vasculopathy is an underestimated complication with limited recognition in NF1. The excessive vascular friability with spontaneous bleeding in NF1 is rare and can be fatal, requiring a timely diagnosis and prompt treatment. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-12-16T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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https://doi.org/10.48750/acv.9 oai:ojs.acvjournal.com:article/9 |
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https://doi.org/10.48750/acv.9 |
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oai:ojs.acvjournal.com:article/9 |
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http://acvjournal.com/index.php/acv/article/view/9 https://doi.org/10.48750/acv.9 http://acvjournal.com/index.php/acv/article/view/9/12 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2016 Angiologia e Cirurgia Vascular info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2016 Angiologia e Cirurgia Vascular |
eu_rights_str_mv |
openAccess |
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Sociedade Portuguesa de Angiologia e Cirurgia Vascular |
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Sociedade Portuguesa de Angiologia e Cirurgia Vascular |
dc.source.none.fl_str_mv |
Angiologia e Cirurgia Vascular; Vol. 12 No. 3 (2016): September; 205-210 Angiologia e Cirurgia Vascular; Vol. 12 N.º 3 (2016): Setembro; 205-210 2183-0096 1646-706X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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