| Autor: |
Nadir Demirel, Roberto Ochoa, Megan K. Dishop, Tara Holm, William Gershan, Gail Brottman |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Respiratory Medicine Case Reports, Vol 25, Iss , Pp 61-65 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2213-0071 |
| DOI: |
10.1016/j.rmcr.2018.06.010 |
| Popis: |
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: Filamin A, Interstitial lung disease, Congenital heart defect, Pulmonary interstitial glycogenosis, Pulmonary arterial hypertension, Patent ductus arteriosus |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
