Abstract and Introduction
Introduction: Although pulmonary arteriovenous malformations are relatively rare disorders, they are an important part of the differential diagnosis of common pulmonary problems, such as hypoxemia, dyspnea on exertion and pulmonary nodules.
Case presentation: An 11-year-old Croatian boy of Mediterranean origin with a history of asthma since childhood was admitted to our hospital for evaluation of difficult-to-control asthma during the previous six months. A chest X-ray showed a homogeneous soft tissue mass in the lingual area. Computed tomography angiography of the thorax showed two pulmonary arteriovenous malformations, one on each side of the lungs. Diagnosis of hereditary hemorrhagic telangiectasia was made clinically by Curaçao criteria. Genetic analysis revealed a mutation in the endoglin gene. The patient was treated with embolotherapy with good clinical outcome.
Conclusion: We present a case of pulmonary arteriovenous malformations masquerading as refractory asthma.
Pulmonary arteriovenous malformations (PAVM[s]) are abnormal communications between the pulmonary artery and vein. Although these lesions are not a common clinical problem, they are an important part of the differential diagnosis of common pulmonary problems such as hypoxemia, dyspnea on exertion and pulmonary nodules.
Asthma is the most common chronic disease in childhood characterized by coughing, wheezing, dyspnea, chest tightness or pressure, and chest pain. The diagnosis of asthma in children requires a careful review of the child's current and past medical history, family history, a physical examination, results of lung function tests (spirometry, bronchodilatation test, bronchial challenge test) and finally a therapeutic trial of medications. Difficult-to-control asthma is a heterogeneous disorder characterized by persistent symptoms of dyspnea, reduced exercise tolerance, and frequent emergency visits despite treatment with high doses of inhaled or oral corticosteroids and long-acting bronchodilators.
The aim of this work (study) was to present the case of a patient with PAVM that had been misdiagnosed as false difficult-to-control asthma.
J Med Case Reports. 2013;7(32) © 2013 BioMed Central, Ltd.