Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion

Wilson, R. Douglas; Pawel, Bruce; Bebbington, Michael; Johnson, Mark P.; Lim, Foong Yen; Stamilio, David M.; Silber, Angela; Zakii, Elaine; Flake, Alan W.

doi:10.1002/pd.1555

Cited by 28 publications

(16 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…High-Resolution CT of thorax of the same patient [55]. Bilateral streaky, patchy parenchymal consolidation areas suggesting interstitial infiltrates.…”

Section: Therapeutic Optionsmentioning

confidence: 95%

“…In the primary pulmonary form of lymphangiectasis disease is confined to the lungs like in CPL (OMIM 265300) or Njolstad syndrome (OMIM 236750). The genetic background of these syndromes is unknown but rare recurrence in siblings suggests an autosomal-recessive or X-linked recessive inheritance [55,70,71]. Dominant inheritance with reduced penetrance has also been discussed [28].…”

Section: Genetic Counselingmentioning

confidence: 97%

“…Prenatal treatment of fetal chylothorax by thoracocentesis, thoracoamniotic shunting or medical pleurodesis should be considered to prevent severe pulmonary hypoplasia and hydrops, especially when the degree of pulmonary and cardiac compression is considered significant [37,[51][52][53][54][55]. These treatment modalities may also allow delivering the fetus closer to term.…”

Section: Therapeutic Optionsmentioning

confidence: 99%

See 2 more Smart Citations

Congenital pulmonary lymphangiectasis

Reiterer

Grossauer

Morris

et al. 2014

Paediatric Respiratory Reviews

View full text Add to dashboard Cite

“…High-Resolution CT of thorax of the same patient [55]. Bilateral streaky, patchy parenchymal consolidation areas suggesting interstitial infiltrates.…”

Section: Therapeutic Optionsmentioning

confidence: 95%

Section: Genetic Counselingmentioning

confidence: 97%

Section: Therapeutic Optionsmentioning

confidence: 99%

See 1 more Smart Citation

Congenital pulmonary lymphangiectasis

Reiterer

Grossauer

Morris

et al. 2014

Paediatric Respiratory Reviews

View full text Add to dashboard Cite

“…Plain chest films showed bilateral pleural effusions and a diffuse thickening of the interstitial spaces and peribronchial areas, a feature that did not change over time. We previously reported a patient with prenatal pleural effusions treated by in utero thoracoamniotic shunting, who despite all postnatal therapeutic efforts expired at the age of 3 months [4] . In that case, the diagnosis of congenital PL was not known until the autopsy.…”

Section: Discussionmentioning

confidence: 99%

Survival in Primary Congenital Pulmonary Lymphangiectasia with Hydrops Fetalis

Laje

Wilson²,

Guttenberg³

et al. 2008

Fetal Diagn Ther

Self Cite

View full text Add to dashboard Cite

The recent advances in neonatal and pediatric intensive care have changed the outcome of patients with congenital pulmonary lymphangiectasia of different types, including those cases with early neonatal symptoms. However, the patients who present the most severe form of the disease, manifested by in utero hydrops (including those treated by in utero thoracoamniotic shunting to relieve the mediastinal compression), have had an unvaryingly fatal ending in all published reports, with most cases dying before birth, and the few born alive dying during the first days of life. We present a patient with primary congenital pulmonary lymphangiectasia complicated by hydrops fetalis, who was treated in utero, survived the neonatal period after intensive medical and surgical support, and was discharged home at the age of 2 months. She is currently 6 months old, and has minimal signs or symptoms of chronic lung disease. The different aspects of the management of congenital pulmonary lymphangiectasia are discussed in this report, together with a review of the literature.

show abstract

“…Congenital pleural effusion can be either chylous (lymphatic) or hydrothoracic, but most primary congenital effusions are chylous and occur in the right pleural space [15] . Most of these pleural effusions were chylothorax or associated hydrops fetalis.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Posterior Urethral Valve and Pleural Effusion in Down Syndrome with Successful Intrauterine Shunt

Kim

Park²,

Young³

et al. 2008

Fetal Diagn Ther

View full text Add to dashboard Cite

Posterior urethral valve or pleural effusion accompanied with Down syndrome have been described previously; however, there is no reported case of posterior urethral valve and pleural effusion with Down syndrome. A 45-year-old multigravida woman was transferred due to bilateral fetal hydrothorax, polyhydramnios, and threatened preterm labor at 32 weeks’ gestation. Transabdominal ultrasonography revealed additional abnormality, posterior urethral valve. Amniocentesis was repeated due to intense amniotic fluid and patient’s dyspnea. Ultrasound-guided thoracoamniotic shunt and vesicoamniotic shunt were done successfully. At 33 weeks’ gestation, intrauterine infection was suspected by the laboratory findings of amniotic fluid. A 2.25-kg male baby with characteristic phenotypic findings of Down syndrome was delivered by Cesarean section. Cytogenetic analysis after birth revealed a karyotype of 47,XY,+21. The present case reinforces the notions that fetuses with multiple anomalies, like congenital pleural effusion and posterior urethral valve, are at risk of chromosomal abnormalities, in spite of their low possibilities of association with chromosomal abnormalities.

show abstract

Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion

Abstract: This postnatal diagnosis of CPL/Hennekam syndrome must be considered with prenatal counseling regarding a fetus with bilateral pleural effusions. This pathological entity is autosomal recessive and has a significant risk of lethality.

Cited by 28 publications

References 13 publications

Congenital pulmonary lymphangiectasis

Congenital pulmonary lymphangiectasis

Survival in Primary Congenital Pulmonary Lymphangiectasia with Hydrops Fetalis

A Rare Case of Posterior Urethral Valve and Pleural Effusion in Down Syndrome with Successful Intrauterine Shunt

Contact Info

Product

Resources

About