Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course

Pediatr Pulmonol. 2018 Dec;53(12):1651-1658. doi: 10.1002/ppul.24123. Epub 2018 Jul 18.


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.

Keywords: biopsy; cysts; glucocorticords; infant newborn; interstitial lung diseases; oxygen; phenotype; pulmonary hypertension.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • 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
  • Retrospective Studies
  • Tomography, X-Ray Computed


  • Adrenal Cortex Hormones