Pulmonary agenesis with unilateral renal agenesis and polysplenia in a young patient: a rare case report

Introduction: Pulmonary agenesis is a rare congenital anomalythat is due to developmental failure of primitive lung buds. It is often associated with other congenital anomalies like cardiovascular, central nervous, gastrointestinal, genitourinary and skeletal systems.1The combination of pulmonary agenesis with renal agenesis and polysplenia makes it a first-of-its-kind case. Case report: A25-year-old female presented with complaints of low-grade fever, chest pain and shortness of breath on exertion for 2 months. On examination, she hadan asymmetrical chest with reduced chest expansion, vocal fremitus, vocal resonance and breath sounds on the left hemithorax. X-ray chest showed homogenous opacity in the middle and lower part of the left chest. So provisionally we kept the diagnosis as collapse or loculated pleural effusion.The patient underwent further radiological investigations and was diagnosed as a case of left pulmonary agenesis with left renal agenesis and polysplenia. Discussion: Bilateral pulmonary agenesis is not compatible with life whereas patients with unilateral agenesis can present at any age with variable respiratory symptoms and recurrent chest infections. The condition mimics other pathologies like collapse, pleural effusion and consolidation on clinical examination and radiograph. Conclusion: Pulmonary agenesis is arare condition that is generally diagnosed in childhood and its presentation in adulthood is extremely rare. Once diagnosed, the patients need further evaluation for other associated congenital anomalies which can be treated potentially before getting symptomatic.