Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways. Lung biopsy with subsequent histological and immunohistochemical studies is a gold standard of CPL diagnosis. Apart from symptomatic and supportive treatments, novel regimens including sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, one of the inhibitors of the pertinent signaling pathways and ethiodized oil lymphatic embolization under ultrasound-guided intranodal lymphangiography have shown encouraging short-term therapeutic effects for lymphatic anomalies. Surgical operations (lobectomy or pneumonectomy) can be the treatment of choice for patients with CPL confined to one lobe or one lung. Patients with CPL usually have a poor prognosis and often die during the neonatal period. Their prognoses are expected to improve with the development of modern therapeutic agents.