Congenital pulmonary lymphangiectasia

Carlo Bellini, Francesco Boccardo, Corradino Campisi, Eugenio Bonioli

Research output: Contribution to journalArticle

54 Citations (Scopus)

Abstract

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

Original languageEnglish
Article number43
JournalOrphanet Journal of Rare Diseases
Volume1
Issue number1
DOIs
Publication statusPublished - 2006

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Lymphangiectasis
Lung
Parturition
Lymphangiectasia pulmonary congenital
Drainage
Lymphoscintigraphy
Neonatal Intensive Care
Hydrops Fetalis
Tachypnea
Cyanosis
Fatal Outcome
Bronchoscopy
Pleural Effusion
Prenatal Diagnosis
Artificial Respiration
Cough
Lung Diseases
Obstetrics
Dilatation
Chronic Disease

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Congenital pulmonary lymphangiectasia. / Bellini, Carlo; Boccardo, Francesco; Campisi, Corradino; Bonioli, Eugenio.

In: Orphanet Journal of Rare Diseases, Vol. 1, No. 1, 43, 2006.

Research output: Contribution to journalArticle

Bellini, Carlo ; Boccardo, Francesco ; Campisi, Corradino ; Bonioli, Eugenio. / Congenital pulmonary lymphangiectasia. In: Orphanet Journal of Rare Diseases. 2006 ; Vol. 1, No. 1.
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