Pulmonary interstitial glycogenosis: Diagnosis and follow-up

Background: Pulmonary interstitial glycogenosis (PIG) is a form of Children's Interstitial and Diffuse Lung Disease that is reportedly responsive to systemic corticosteroids and has good outcomes. Aims and objectives: We aimed to describe our patients with PIG to better understand presentation, evaluation, cardiac findings, computed tomography assessments, and outcomes. We also sought to classify pathologic findings to differentiate between patchy and diffuse PIG as well as any additional cotravelers such as alveolar simplification and vascular remodeling. Methods: With institutional review board approval, we performed a retrospective review of patients with biopsy-proven PIG. Biopsies, chest computed tomography, and cardiac evaluations were reviewed and characterized by experts in each field. Infant pulmonary function tests were compared to diseased controls. Results: Most of the 24 patients were male (15), Caucasian (14) and non-Latino (13). The mean gestational age was 35.1 weeks (range 27-40). The mean age at biopsy was 2.2 months (range .3-6.0 months). Most (19) patients had congenital and/or acquired cardiac disease. Most patients were treated with systemic corticosteroids. Average age at last follow up was 37.9 months (range 1.2-169.8 months). At the time of last follow up, 11 patients were off all support, 3 were mechanically ventilated, one underwent lung transplantation, and one died. Conclusions: PIG is a disease of early infancy that frequently co-travels with bronchopulmonary dysplasia and cardiac disease. Without life-threatening cardiac complications, many patients do well, although respiratory symptoms may persist into adolescence.