Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency

Pediatr Pulmonol. 2015 Jul;50(7):E25-8. doi: 10.1002/ppul.23162. Epub 2015 Feb 9.


Chronic interstitial lung diseases are rare in childhood and can present with a wide spectrum of histological abnormalities and radiological-clinical phenotypes. A 17-month-old female infant with malnutrition, recurrent lower respiratory tract infections, and failure to thrive since 3 months of age was diagnosed as surfactant protein C deficiency. Diffuse, giant, and life-threatening pneumatoceles developed during the course. They were treated with empiric drug treatment and oxygen support, and resolved rapidly. Substantial clinical and radiological improvement was observed 1 year after treatment initiation. Large-giant pneumatoceles can develop in the course of surfactant protein C deficiency and may be associated with biopsy. They can resolve with medical treatment. If available, genetic testing should be attempted as a first step for diagnosis.

Keywords: children; interstitial lung disease (ILD); pneumatocel; surfactant protein C deficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Air*
  • Cysts / diagnostic imaging*
  • Female
  • Humans
  • Infant
  • Lung Diseases / diagnostic imaging*
  • Protein C Deficiency / complications*
  • Radiography