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 café au lait patch, splenicule and hemangioma in segment V/VI of the liver.

Arthrogryposis multiplex congenita causing hypercapnic respiratory failure and airway obstruction in an adult patient.

This case highlights arthrogryposis multiplex congenita (AMC) as a rare cause of hypercapnoeic respiratory failure and airway obstruction in adults and emphasizes the usage of leak-port in tracheostomy-NIV (non-invasive-ventilation) specially in resource poor setting when the tracheostomy-NIV mask is unavailable.

Exploring bilateral pneumothorax leading to a rare diagnosis in a young lady.

Bilateral pneumothorax is a rare occurrence and vigilant clinical examination is mandatory to suspect that during the presentation. This case illustrates a young lady presented with bilateral pneumothorax, new identification of lung cysts and chylous pleural effusion leading to diagnosis of lymphangioleiomyomatosis.