Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course

Deborah R. Liptzin, Christopher D. Baker, Jeffrey R. Darst, Jason P. Weinman, Megan K. Dishop, Csaba Galambos, John T. Brinton, Robin R. Deterding

Research output: Contribution to journalReview articlepeer-review

25 Scopus citations


Objectives: 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. Methods: 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. Results: 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%). Conclusions: 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.

Original languageEnglish
Pages (from-to)1651-1658
Number of pages8
JournalPediatric Pulmonology
Issue number12
StatePublished - Dec 2018


  • biopsy
  • cysts
  • glucocorticords
  • infant newborn
  • interstitial lung diseases
  • oxygen
  • phenotype
  • pulmonary hypertension


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