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 gestatio...

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Main Authors:	Wirbelauer, Johannes, Hebestreit, Helge, Marx, Alexander, Mark, Eugene J., Speer, Christian P.
Format:	Online
Language:	English
Published:	Hindawi Publishing Corporation 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420428/

id	pubmed-3420428
recordtype	oai_dc
spelling	pubmed-34204282012-08-30 Familial Pulmonary Capillary Hemangiomatosis Early in Life Wirbelauer, Johannes Hebestreit, Helge Marx, Alexander Mark, Eugene J. Speer, Christian P. Case Report 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. Hindawi Publishing Corporation 2011 2011-12-19 /pmc/articles/PMC3420428/ /pubmed/22937432 http://dx.doi.org/10.1155/2011/827591 Text en Copyright © 2011 Johannes Wirbelauer et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Wirbelauer, Johannes Hebestreit, Helge Marx, Alexander Mark, Eugene J. Speer, Christian P.
spellingShingle	Wirbelauer, Johannes Hebestreit, Helge Marx, Alexander Mark, Eugene J. Speer, Christian P. Familial Pulmonary Capillary Hemangiomatosis Early in Life
author_facet	Wirbelauer, Johannes Hebestreit, Helge Marx, Alexander Mark, Eugene J. Speer, Christian P.
author_sort	Wirbelauer, Johannes
title	Familial Pulmonary Capillary Hemangiomatosis Early in Life
title_short	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_sort	familial pulmonary capillary hemangiomatosis early in life
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.
publisher	Hindawi Publishing Corporation
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420428/
_version_	1611550096784097280

Familial Pulmonary Capillary Hemangiomatosis Early in Life

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