Familial Pulmonary Capillary Hemangiomatosis Early in Life
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...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Pulmonology |
| Online Access: | http://dx.doi.org/10.1155/2011/827591 |
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| author | Johannes Wirbelauer Helge Hebestreit Alexander Marx Eugene J. Mark Christian P. Speer |
| author_facet | Johannes Wirbelauer Helge Hebestreit Alexander Marx Eugene J. Mark Christian P. Speer |
| author_sort | Johannes Wirbelauer |
| collection | DOAJ |
| description | 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 O2 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 O2 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. |
| format | Article |
| id | doaj-art-82fc5ea2a2e04efebb09bc34a5a6da94 |
| institution | Kabale University |
| issn | 2090-6846 2090-6854 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pulmonology |
| spelling | doaj-art-82fc5ea2a2e04efebb09bc34a5a6da942025-02-03T06:12:43ZengWileyCase Reports in Pulmonology2090-68462090-68542011-01-01201110.1155/2011/827591827591Familial Pulmonary Capillary Hemangiomatosis Early in LifeJohannes Wirbelauer0Helge Hebestreit1Alexander Marx2Eugene J. Mark3Christian P. Speer4University Children's Hospital, University of Wuerzburg, Josef-Schneider-Straße 2, 97080 Wuerzburg, GermanyUniversity Children's Hospital, University of Wuerzburg, Josef-Schneider-Straße 2, 97080 Wuerzburg, GermanyDepartment of Pathology, Faculty of Medicine Mannheim, University of Heidelberg, 68167 Mannheim, GermanyHarvard Medical School, Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USAUniversity Children's Hospital, University of Wuerzburg, Josef-Schneider-Straße 2, 97080 Wuerzburg, GermanyBackground. 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 O2 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 O2 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.http://dx.doi.org/10.1155/2011/827591 |
| spellingShingle | Johannes Wirbelauer Helge Hebestreit Alexander Marx Eugene J. Mark Christian P. Speer Familial Pulmonary Capillary Hemangiomatosis Early in Life Case Reports in Pulmonology |
| title | Familial Pulmonary Capillary Hemangiomatosis Early in Life |
| title_full | Familial Pulmonary Capillary Hemangiomatosis Early in Life |
| title_fullStr | Familial Pulmonary Capillary Hemangiomatosis Early in Life |
| title_full_unstemmed | Familial Pulmonary Capillary Hemangiomatosis Early in Life |
| title_short | Familial Pulmonary Capillary Hemangiomatosis Early in Life |
| title_sort | familial pulmonary capillary hemangiomatosis early in life |
| url | http://dx.doi.org/10.1155/2011/827591 |
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