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.
Original language | English (US) |
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Pages (from-to) | 61-65 |
Number of pages | 5 |
Journal | Respiratory Medicine Case Reports |
Volume | 25 |
DOIs | |
State | Published - 2018 |
Bibliographical note
Publisher Copyright:© 2018
Keywords
- Congenital heart defect
- Filamin A
- Interstitial lung disease
- Patent ductus arteriosus
- Pulmonary arterial hypertension
- Pulmonary interstitial glycogenosis