title: Congenital pulmonary lymphangiectasis.
abstract: Congenital pulmonary lymphangiectasis (CPL) is a rare vascular malformation causing dilated lymph vessels and disturbed drainage of lymph fluid. Based on the pathogenesis and clinical phenotype it can be classified as primary or secondary CPL. Associated genetic syndromes with or without lymphedema, familial occurrence and gene mutations have been described. In utero, it may present as non-immune hydrops with pleural effusions. At birth neonates may have respiratory failure due to chylothorax and pulmonary hypoplasia, causing very high short term mortality rates. Other cases may become symptomatic any time later in childhood or even during adult life. CPL is usually diagnosed based on the combination of clinical signs, imaging and histological findings. Open-lung biopsy is considered the gold standard for the diagnosis of CPL. Treatment is primarily supportive featuring aggressive mechanical ventilation and the management of problems associated with congenital chylothorax including chest-drainage, medium-chain triglycerides (MCT) diet, and octreotide.
authors.affiliation: Division of Neonatology, Department of Paediatrics, Medical University of Graz, Austria. Electronic address: friedrich.reiterer@medunigraz.at.
authors.forename: Friedrich
authors.initials: F
authors.lastname: Reiterer
authors.affiliation: Division of Neonatology, Department of Paediatrics, Medical University of Graz, Austria.
authors.forename: Karin
authors.initials: K
authors.lastname: Grossauer
authors.affiliation: Division of Neonatology, Department of Paediatrics, Medical University of Graz, Austria.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Morris
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Austria.
authors.forename: Sabine
authors.initials: S
authors.lastname: Uhrig
authors.affiliation: Division of Neonatology, Department of Paediatrics, Medical University of Graz, Austria; Research Unit for Neonatal Infectious Diseases and Epidemiology, Medical University of Graz, Austria.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Resch
mesh_terms: D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000145:classification / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D008200:Lymphangiectasis / Q000145:classification / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy
keywords: Classification; Congenital pulmonary lymphangiectasis; Diagnosis; Genetic counselling; Review; Therapeutic options