OBJECTIVE: To report a case of an oldest previously asymptomatic infant diagnosed with alveolar capillary dysplasia who lived a relatively normal life until 7 months of age. DESIGN: Descriptive case report. SETTING: Intensive care unit of a tertiary care children's hospital. PATIENT: Seven-month-old female infant with profound hypoxemia and pulmonary hypertension. CONCLUSION: Alveolar capillary dysplasia should be considered with a high index of suspicion in an infant who presents with pulmonary hypertension beyond the neonatal period and for which no anatomical cause can be found. Early consideration of open lung biopsy may prevent using costly, invasive, and probably ineffective procedures such as extracorporeal membrane oxygenation.
OBJECTIVE: To report a case of an oldest previously asymptomatic infant diagnosed with alveolar capillary dysplasia who lived a relatively normal life until 7 months of age. DESIGN: Descriptive case report. SETTING: Intensive care unit of a tertiary care children's hospital. PATIENT: Seven-month-old female infant with profound hypoxemia and pulmonary hypertension. CONCLUSION:Alveolar capillary dysplasia should be considered with a high index of suspicion in an infant who presents with pulmonary hypertension beyond the neonatal period and for which no anatomical cause can be found. Early consideration of open lung biopsy may prevent using costly, invasive, and probably ineffective procedures such as extracorporeal membrane oxygenation.
Authors: Przemyslaw Szafranski; Avinash V Dharmadhikari; Jennifer A Wambach; Chris T Towe; Frances V White; R Mark Grady; Pirooz Eghtesady; F Sessions Cole; Gail Deutsch; Partha Sen; Paweł Stankiewicz Journal: Am J Med Genet A Date: 2014-05-19 Impact factor: 2.802
Authors: Jonathan J Edwards; Chaya Murali; Jennifer Pogoriler; David B Frank; Stephanie S Handler; Mathew A Deardorff; Rachel K Hopper Journal: J Pediatr Date: 2019-03-08 Impact factor: 4.406
Authors: Paweł Stankiewicz; Partha Sen; Samarth S Bhatt; Mekayla Storer; Zhilian Xia; Bassem A Bejjani; Zhishuo Ou; Joanna Wiszniewska; Daniel J Driscoll; Melissa K Maisenbacher; Juan Bolivar; Mislen Bauer; Elaine H Zackai; Donna McDonald-McGinn; Małgorzata M J Nowaczyk; Mitzi Murray; Virginia Hustead; Kristin Mascotti; Regina Schultz; Lavinia Hallam; Duncan McRae; Andrew G Nicholson; Robert Newbury; Jane Durham-O'Donnell; Gail Knight; Usha Kini; Tamim H Shaikh; Vicki Martin; Matthew Tyreman; Ingrid Simonic; Lionel Willatt; Joan Paterson; Sarju Mehta; Diana Rajan; Tomas Fitzgerald; Susan Gribble; Elena Prigmore; Ankita Patel; Lisa G Shaffer; Nigel P Carter; Sau Wai Cheung; Claire Langston; Charles Shaw-Smith Journal: Am J Hum Genet Date: 2009-06-04 Impact factor: 11.025