RESUMO
Arteriovenous dysplasia is rather uncommon disease, quite often leading to severe complications even in young age. Involvement of the osseous apparatus into the pathological process is frequently associated with the problem of amputation of the affected limb. Therefore, salvage of the extremity while removing arteriovenous shunt and trophic impairments is an extremely important clinical task. In the presented herein clinical case report, a female patient with arteriovenous angiodysplasia of the lower limb with the tibial bone involved into the pathological process underwent repeated stagewise embolisations, failing however to achieve complete liquidation of the arteriovenous reflux. In this connection, after removal of angiomatous tissues, requiring also excochleation of the damaged portions of the bone, in order to reinforce the axis of the tibial bone the intramedullary canal of the latter was filled with polymethylmethacrylate (PMMA). Expansion of the spectrum of auxiliary methods, besides the most frequently performed in such patients embolisations of afferent arteries and removal of angiomatous tissues would make it possible to increase radical nature of interventions with salvage of the supporting function of limbs.
Assuntos
Angiodisplasia/cirurgia , Malformações Arteriovenosas , Doenças Ósseas , Cementoplastia/métodos , Embolização Terapêutica/métodos , Artérias da Tíbia , Adulto , Angiodisplasia/etiologia , Angiografia , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/fisiopatologia , Malformações Arteriovenosas/cirurgia , Cimentos Ósseos/uso terapêutico , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/etiologia , Doenças Ósseas/cirurgia , Feminino , Humanos , Perna (Membro)/irrigação sanguínea , Perna (Membro)/diagnóstico por imagem , Perna (Membro)/cirurgia , Salvamento de Membro/métodos , Polimetil Metacrilato/uso terapêutico , Tíbia/irrigação sanguínea , Tíbia/diagnóstico por imagem , Tíbia/cirurgia , Artérias da Tíbia/anormalidades , Artérias da Tíbia/cirurgia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its worldwide prevalence is 1:10,000 to 1:20,000 live births depending on the region. The SBDS gene and a few mutations, which lead to this syndrome, have been found in the past decade. The paper describes a case of this rare disease in a 28-year-old male patient who has all characteristic manifestations as lipomatosis and severe exocrine pancreatic insufficiency, neutropenia with bone marrow hypoplasia, physical retardation, glucose intolerance, secondary osteopenia, and minor cardiac anomalies. Its clinical diagnosis was verified by molecular genetic testing.