Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8820162 | Respiratory Medicine Case Reports | 2018 | 25 Pages |
Abstract
A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome. She was found to have normal pulmonary venous drainage with a large patent ductus arteriosus and severe pulmonary arterial hypertension. Chest CT was suggestive of interstitial lung disease. Wedge lung biopsy revealed alveolar simplification and patchy pulmonary interstitial glycogenosis. A definitive diagnosis of Filamin A deficiency was made with genetic studies. The patient is currently showing clinical improvement on systemic glucocorticoid therapy.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Pulmonary and Respiratory Medicine
Authors
Nadir Demirel, Roberto Ochoa, Megan K. Dishop, Tara Holm, William Gershan, Gail Brottman,