Late diagnosis of pulmonary agenesis

Abstract

Pulmonary agenesis is defined as the complete absence of one or both lungs, including the bronchi, bronchioles, vasculature and lung parenchyma. Most of these malformations are detected in early childhood. A residual number remains asymptomatic and undiagnosed until adulthood. The clinical presentation is wide, ranging from asymptomatic to respiratory complaints like dyspnoea, respiratory distress and a history of recurrent lung infections. This case presents a 54-year-old woman with complaints of coughing, dyspnoea for medium exertion and wheezing for a couple of months. Based on the results of complementary diagnosis methods, right pulmonary agenesis was diagnosed without other malformations. Simultaneously, an asthma diagnosis was also performed. The treatment of pulmonary agenesis is symptomatic. Simultaneous cardiovascular malformations could require surgical interventions. This case demonstrates that pulmonary agenesis may remain undiagnosed, be identified incidentally, and have a good and long prognosis.

Agenesis of the right lung in an adult woman: A case report

“…Our patient was diagnosed in adulthood, and she has no other congenital abnormalities, which makes it a rare case with a better prognosis. Other cases with the same illness have been reported, and the diagnosis was established accidentally during routine imaging tests 7 or during the diagnostic assessment of pulmonary symptoms 8–11 …”

“…Other cases with the same illness have been reported, and the diagnosis was established accidentally during routine imaging tests 7 or during the diagnostic assessment of pulmonary symptoms. [8][9][10][11] In pulmonary agenesis, diagnosis is usually made using chest imaging tests. The most common radiographic findings are ipsilateral lung volume loss, obliteration of the costal and cardiophrenic angles, displacement of the mediastinal structures toward the affected side, the elevation of the ipsilateral hemidiaphragm, and compensatory hyperinflation of the contralateral lung.…”

“…13 In our patient, the diagnosis was confirmed by chest CT scans and bronchofibroscopy, which showed the absence of the right lung parenchyma, as well as its bronchial and vascular structures. Asymptomatic patients, with mild symptoms and no other congenital abnormalities, do not require treatment; however, lung infections or other respiratory diseases should be treated early and the patient should have clinical follow-up to detect possible complications, such as pulmonary hypertension, 8,11,14 which was recommended for our patient, who had mild pulmonary hypertension on echocardiogram. In circumstances where additional congenital abnormality is present, surgical treatment may be required.…”