Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course

• Published in: Pediatric pulmonology 2018-12, Vol.53 (12), p.1651-1658
• Main Authors: Liptzin, Deborah R, Baker, Christopher D, Darst, Jeffrey R, Weinman, Jason P, Dishop, Megan K, Galambos, Csaba, Brinton, John T, Deterding, Robin R
• Format: Article
• Language: English
• Subjects: Adrenal Cortex Hormones - therapeutic use; Age; Biopsy; Female; Gestational Age; Glycogen Storage Disease - complications; Glycogen Storage Disease - diagnosis; Glycogen Storage Disease - drug therapy; Glycogen Storage Disease - pathology; Heart Defects, Congenital - complications; Heart Defects, Congenital - diagnosis; Humans; Hypertension, Pulmonary - complications; Hypertension, Pulmonary - diagnosis; Infant; Infant, Newborn; Lung - diagnostic imaging; Lung - pathology; Lung Diseases, Interstitial - complications; Lung Diseases, Interstitial - diagnosis; Lung Diseases, Interstitial - drug therapy; Lung Diseases, Interstitial - pathology; Male; Phenotype; Pulmonary Alveoli - pathology; Pulmonary hypertension; Retrospective Studies; Tomography, X-Ray Computed
• ISSN: 8755-6863; 1099-0496
• DOI: 10.1002/ppul.24123

We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co-morbidities, high resolution computed tomography findings, and outcomes. With institutional review board approval, we performed a retrospective review of patients with biopsy-proven P.I.G. Biopsies, high resolution chest computed tomography, and cardiac evaluations were reviewed and characterized by experts in each field. Sixty-two percent of the patients were male. The median gestational age was 37 weeks (range 27-40). The median age at biopsy was 1.6 months (range 0.3-6 months). Structural heart disease was present in 63% of patients. Pulmonary hypertension (diagnosed by echocardiogram and/or cardiac catheterization) was noted in 38% of patients. Alveolar simplification was present in 79% of patients. Fifty percent of available biopsies revealed patchy disease. An increase in age at biopsy was associated with patchy (vs diffuse) disease. Ninety-two percent of patients were treated with systemic corticosteroids. Median age at last follow-up was 1234 days with a range of 37 days to 15 years. At the time of last follow-up, 12 patients were off all support, eight were on supplemental oxygen, two were mechanically ventilated, one underwent lung transplantation, and one died. CT findings commonly included ground glass opacities (86%) and cystic change (50%). The P.I.G. phenotype has not been comprehensively described, and poor recognition and misconceptions about P.I.G. persist. P.I.G. is a disease that presents in early infancy, requires significant medical intervention, and frequently is seen in association with alveolar simplification and/or cardiovascular disease. CT findings include ground glass opacities and cysts. Patients should be monitored for pulmonary hypertension. Without life-threatening comorbidities, many patients do well over time, although respiratory symptoms may persist into adolescence.