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.
Bibliographical noteFunding Information:
The authors thank Drs. Mark Luquette, Faqian Li and Emilian Racila from Department of Laboratory Medicine and Pathology at the University of Minnesota for their support in preparation and interpretation of pathology slides.
- Congenital heart defect
- Filamin A
- Interstitial lung disease
- Patent ductus arteriosus
- Pulmonary arterial hypertension
- Pulmonary interstitial glycogenosis