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Published on: October 19, 2013
Familial pulmonary capillary hemangiomatosis early in life
Johannes Wirbelauer1, Helge Hebestreit, Alexander Marx
1University Children's Hospital, University of Wuerzburg, Josef-Schneider-Straße 2, 97080 Wuerzburg, Germany.
Insights
Pulmonary capillary hemangiomatosis (PCH) in infants is rare, with no known familial cases. This study details three siblings with PCH, suggesting a potential genetic link in this rare pediatric disease.
Area of Science:
- Pediatric Medicine
- Rare Diseases
- Genetics
Background:
- Pulmonary capillary hemangiomatosis (PCH) is an exceptionally rare condition, particularly in infants.
- Previous reports have not identified familial cases of PCH in infants under 12 months.
Observation:
- This report describes three siblings diagnosed with histologically confirmed PCH.
- Two siblings presented with PCH, patent ductus arteriosus (PDA), and pulmonary hypertension, with differing clinical outcomes.
- A third sibling's fetus exhibited histological signs of PCH.
Findings:
- The clinical presentation of PCH, PDA, and pulmonary hypertension in siblings suggests a possible genetic etiology.
- The disease course varied significantly, with one infant succumbing to respiratory failure and the other stabilizing with medical management.
Implications:
- Identifying a genetic basis for PCH could revolutionize diagnosis and treatment strategies for affected infants.
- Further research into the genetic underpinnings of PCH is warranted to improve patient outcomes.
Abstract:
Background. Pulmonary capillary hemangiomatosis (PCH) is a rare disease, especially in infancy. Four infants have been reported up to the age of 12 months. So far, no familial patients are observed at this age. Patients. We report three siblings, two female newborns and a foetus of 15-week gestation of unrelated, healthy parents suffering from histologically proven PCH. The first girl presented with increased O(2) requirements shortly after birth and patent ductus arteriosus (PDA). She subsequently developed progressive respiratory failure and pulmonary hypertension and died at the age of five months. The second girl presented with clinical signs of bronchial obstruction at the age of three months. The work-up showed a PDA-which was surgically closed-pulmonary hypertension, and bronchial wall instability with stenosis of the left main bronchus. Transient oxygen therapy was required with viral infections. The girl is now six years old and clinically stable without additional O(2) requirements. Failure to thrive during infancy and a somewhat delayed development may be the consequence of the disease itself but also could be attributed to repeated episodes of respiratory failure and a long-term systemic steroid therapy. The third pregnancy ended as spontaneous abortion. The foetus showed histological signs of PCH. Conclusion. Despite the differences in clinical course, the trias of PCH, PDA, and pulmonary hypertension in the two life born girls suggests a genetic background.
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