Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?

Nadir Demirel, Roberto Ochoa, Megan K. Dishop, Tara Holm, William Gershan, Gail Brottman

Research output: Contribution to journalArticle

3 Scopus citations

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 languageEnglish (US)
Pages (from-to)61-65
Number of pages5
JournalRespiratory Medicine Case Reports
Volume25
DOIs
StatePublished - 2018

Keywords

  • Congenital heart defect
  • Filamin A
  • Interstitial lung disease
  • Patent ductus arteriosus
  • Pulmonary arterial hypertension
  • Pulmonary interstitial glycogenosis

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