RESUMO
A 9-year-old boy with the classical type of Ehlers-Danlos syndrome (EDS) developed a symptomatic aneurysm of the superior mesenteric artery. His EDS diagnosis had been confirmed biochemically and genetically. Vascular complications are known to be associated with the vascular type of EDS, but this is the first report of a child with classical EDS who developed a major vascular complication. Clinicians should be aware that severe vascular complications albeit rare, can also occur in classical EDS.
Assuntos
Aneurisma/diagnóstico por imagem , Síndrome de Ehlers-Danlos/complicações , Artéria Mesentérica Superior/diagnóstico por imagem , Aneurisma/complicações , Angiografia , Criança , Humanos , Masculino , Artéria Mesentérica Superior/patologia , Tomografia Computadorizada por Raios XAssuntos
Obstrução das Vias Respiratórias/terapia , Pressão Positiva Contínua nas Vias Aéreas/métodos , Hélio/uso terapêutico , Hipóxia/fisiopatologia , Oxigênio/uso terapêutico , Doença Aguda , Idoso , Idoso de 80 Anos ou mais , Hélio/administração & dosagem , Hospitais Universitários , Humanos , Lactente , Pessoa de Meia-Idade , Oxigênio/administração & dosagem , Ventiladores MecânicosRESUMO
OBJECTIVE: To find out which patients with Duchenne muscular dystrophy are eligible for starting home mechanical ventilation and what the survival rate is. DESIGN: Retrospective. METHOD: In 48 patients with Duchenne muscular dystrophy who were treated with home ventilation from 1987, the results were assessed in the follow-up visit in February 2005. Initially, ventilation was only given through a tracheotomy (TPPV), but after starting up a multidisciplinary neuromuscular consultation, non-invasive ventilation (NIPPV) was offered in an earlier stage of the disease. The following data were derived from the outpatient medical record: indication for ventilation, vital capacity (VC), arterial blood gas values, duration of ventilation up to February 2005, survival and causes of death. RESULTS: 15 patients died. The 5-year survival rate was 75% from the start of mechanical ventilation and 67% (18/27) of the patients were still living at home at the time of the follow-up visit. The most important causes of death were cardiomyopathy (5/15) and tracheal bleeding (3/15). The group of patients who started ventilation before 1995 (n = 17) had a significantly smaller VC than the group (n = 31) who started after the neuromuscular consultation was set up. The PaCO2 during daytime was significantly higher in the group that started ventilation before 1995 compared to the group that started later. CONCLUSION: Home mechanical ventilation can be implemented effectively in patients with Duchenne dystrophy, with a 5-year survival of 75%.
Assuntos
Ventilação com Pressão Positiva Intermitente/métodos , Distrofia Muscular de Duchenne/terapia , Doenças Neuromusculares/terapia , Respiração Artificial/métodos , Insuficiência Respiratória/terapia , Adolescente , Adulto , Causas de Morte , Criança , Feminino , Serviços de Assistência Domiciliar , Humanos , Masculino , Distrofia Muscular de Duchenne/fisiopatologia , Doenças Neuromusculares/fisiopatologia , Estudos Retrospectivos , Análise de Sobrevida , Capacidade VitalRESUMO
A ventilator-dependent child had been in the paediatric intensive care unit (PICU) ever since birth. As a result, she had fallen behind considerably in her development. After 18 months, continuous positive airway pressure was successfully administered via a tracheostomy tube with a novel lightweight device. This enabled her to walk in the PICU. With this device, the child was discharged home where she could walk with an action range of 10 m. Subsequently, her psychomotor development improved remarkably. To the authors' knowledge, this is the first case report of a patient, adult or paediatric, who could actually walk with a sufficient radius of action while receiving long-term respiratory support.
