Abstract
Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available. The purpose of this review is to provide a review of CT findings of pulmonary interstitial glycogenosis with histological correlation to aid in early diagnosis and management. A 10-year retrospective review was performed to identify pediatric patients <18years who underwent biopsy and CT within the last 10years at our institution. The inclusion criteria include patients who had a CT within 3months of biopsy and pathology-proven pulmonary interstitial glycogenosis CTs that were evaluated by three radiologists using a standardized scoring system. Fifteen patients met inclusion criteria (9 male, 6 female). At the time of initial pre-biopsy CT, ages ranged from 2weeks to 5months. Pulmonary symptoms presented at birth in the majority of patients (n=13). Two patients presented in early infancy at 3months (n=1) and 5months (n=1). Ground glass opacities were the most common CT finding (n=14), which varied from diffuse to scattered. Cystic lucencies (n=11) were noted in the majority of patients as well. Interlobular septal thickening (n=10) and architectural distortion (n=8) were less common findings. The most common CT findings of pulmonary interstitial glycogenosis are ground glass opacities with cystic lucencies. While the imaging findings are distinct from the typical presentation of neuroendocrine hyperplasia of infancy, there is significant overlap of these findings with surfactant dysfunction mutations, entities that also present with respiratory distress in the neonatal period. Therefore, imaging findings in pulmonary interstitial glycogenosis are helpful in guiding the need for genetic testing and/or biopsy.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have