Central conducting lymphatic anomaly with pulmonary lymphatic dysplasia causes restrictive lung disease and chronic pleural effusion

At age 13 years, after 3 years of intermittently being admitted to hospital with weight loss, exacerbations of dyspnoea, and an alpelisib-related thyroiditis, the patient had increasing fatigue and respiratory distress; pulmonary function testing indicated severe restrictive lung disease. A chest x-ray showed mild pulmonary oedema and an increase in the size of the right pleural effusion; repeat dynamic contrast-enhanced magnetic resonance lymphangiography showed extensive pulmonary lymphatic perfusion and a small thoracic duct (figure). Central conducting lymphatic anomaly is a heterogeneous form of a group of disorders, known as complex lymphatic anomalies, that encompasses any condition affecting the thoracic duct and cisterna chyli—the primary structures of the central lymphatic system.