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Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency
Tugba Sismanlar1, Ayse Tana Aslan1, Matthias Griese2
1Department of Pediatric Pulmonology, Gazi University Hospital, Ankara, Turkey.
Insights
Surfactant protein C deficiency in infants can cause life-threatening pneumatoceles. Prompt medical treatment, including oxygen, led to rapid resolution and significant improvement in this case.
Area of Science:
- Pediatric Pulmonology
- Rare Genetic Diseases
- Interstitial Lung Disease
Background:
- Chronic interstitial lung diseases (ILDs) are uncommon in children, presenting diverse clinical and radiological features.
- Surfactant protein C (SFTPC) deficiency is a rare genetic cause of pediatric ILD.
- Infants with SFTPC deficiency may exhibit malnutrition, recurrent infections, and failure to thrive.
Abstract:
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.
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