Congenital lobar emphysema associated with polysplenia syndrome

Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules. We report a case of polysplenia associated with congenital lobar emphysema apart from other typical anomalies. Such an association has not been previously reported. The patient was a young male with progressive exertional breathlessness referred for high resolution CT of the lungs. CT, MRI and echocardiography revealed (in addition to congenital lobar emphysema of right lung) a hemiazygos continuation of the inferior vena cava, a persistent left superior vena cava, multiple splenunculi in the right hypochondrium, midline liver, bilateral bilobed lungs, a large pulmonary artery (suggestive of severe pulmonary artery hypertension) and a large VSD--a typical constellation of findings described in polysplenia syndrome.