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Pulmonary lymphangiectasia revisited
S Bouchard1, M Di Lorenzo, S Youssef
1Department of Surgery, University of Montreal, Sainte-Justine Hospital, Quebec, Canada.
Insights
Pulmonary lymphangiectasia (PL) is a rare condition. Survival is possible if diagnosed past the neonatal period, with symptom improvement expected in long-term survivors.
Area of Science:
- Pediatric Pulmonology
- Medical Genetics
Background:
- Pulmonary lymphangiectasia (PL) is a rare congenital disorder characterized by abnormal lymphatic development in the lungs.
- Limited data exists on the long-term outcomes and survival of individuals with PL beyond the neonatal period.
Purpose of the Study:
- To investigate the clinical course and outcomes of patients diagnosed with pulmonary lymphangiectasia (PL).
- To provide insights into the long-term prognosis and management of PL survivors.
Main Methods:
- Retrospective review of histologically confirmed cases of pulmonary lymphangiectasia (PL) from 1965 onwards.
- Inclusion of both fetal and pediatric cases, including long-term survivors.
Main Results:
- Eleven pediatric cases and 8 fetal cases of PL were identified.
- Of the 11 children, 5 survived beyond the neonatal period, with diminishing symptomatology and hospital admissions over time.
- Common symptoms included respiratory distress, recurrent pneumonia, and cough; associated conditions like Noonan syndrome and cardiac malformations were noted.
Conclusions:
- This study represents the first long-term investigation of primary pulmonary lymphangiectasia (PL).
- While often fatal neonatally, survival is achievable with diagnosis beyond the neonatal period, and improvement in condition is anticipated.
- Findings can aid in parental counseling and understanding the disease trajectory.
Purpose:
Pulmonary lymphangiectasia (PL) is a rare, poorly documented disease characterized by abnormal pulmonary lymphatics. Although case reports are published, little is known about survivors past the neonatal period.
Methods:
This is a retrospective review of histologically proven PL in fetuses, infants, and long term survivors since 1965.
Results:
Eleven children (8 boys, 3 girls) and 8 aborted fetuses (7 male, 1 female) were identified. The fetuses weighed 463.4 g (177 to 681 g). Six were aborted between 19 to 24 weeks of gestation for multiple malformations or anencephaly, and 2 spontaneously aborted: one with PL only, the other with twin-twin transfusion syndrome. Clinical PL was diagnosed between 0 and 11 months of age. Six children died (2 neonatal, 4 within 10 days), 5 survived. Two deaths occurred after cardiac surgery. Among survivors, the symptomatology and frequency of admissions diminished over time. Symptoms included progressive respiratory distress, chronic cough, recurrent pneumonia, bronchial asthma, and choking. One child with bilateral chylothorax was later diagnosed with Noonan syndrome; 2 patients had minor cardiac malformations. Rapid deterioration occurred with mild respiratory infections with only supportive treatment available. Chest x-ray showed marked hyperinflation with interstitial infiltrate.
Conclusions:
This is the first long-term study of primary PL and will help counsel parents. Although fatal in the neonatal period, survival is possible if diagnosed past the neonatal period and improvement is expected.