Unilateral pulmonary agenesis with ipsilateral facial congenital anomalies in an adult with obstructive airway disease

Pulmonary agenesis is a rare congenital anomaly which can be isolated or co-exist with other developmental defects. Boyden et al has described three degrees of mal development of lung which include agenesis, hypoplasia and aplasia. Almost all the reported cases are in paediatric age group patients while, adults with pulmonary developmental abnormalities are sparsely documented in the literature. Interestingly, adult with coexisting hemifacial anomaly and pulmonary agenesis has not been reported in the medical literature. Here, we describe a middle-aged female who initially presented with bronchial asthma and her chest radiography showed absent left lung which was later confirmed with enhanced CT imaging. Furthermore, she had ipsilateral hemi facial microsomia, microtia, facial nerve palsy and mixed sensory loss, left side large cafe au lait patch, splenicule and hemangioma in segment V/VI of the liver. Lung agenesis is a rare entity to diagnose in adult pulmonology. Here we present an adult who presented with asthma with unilateral lung agenesis along with ipsilateral facial deformity. image