Pulmonary interstitial glycogenosis: An unrecognized etiology of persistent pulmonary hypertension of the newborn in congenital heart disease?

Monique R. Radman, Patricia Goldhoff, Kirk D. Jones, Anthony Azakie, Sanjeev Datar, Ian Adatia, Peter E. Oishi, Jeffrey R. Fineman

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Background: Pulmonary interstitial glycogenosis (PIG) arises from a developmental disorder of the pulmonary mesenchyme and presents clinically with reversible neonatal respiratory distress and/or persistent pulmonary hypertension of the newborn (PPHN). Objective: We report two cases of PIG in patients with congenital heart disease (CHD) and evidence of PPHN. Results: Both cases demonstrated the hallmark PIG histologic finding of diffuse, uniform interstitial thickening due to the presence of immature interstitial cells containing abundant cytoplasmic glycogen. Conclusions: We report the second and third patients with PIG associated with CHD. Because histologic examination is required to establish the diagnosis, we speculate that PIG, although rare, may be underrecognized in neonates presenting with PPHN in the setting of CHD.

Original languageEnglish (US)
Pages (from-to)1254-1257
Number of pages4
JournalPediatric Cardiology
Volume34
Issue number5
DOIs
StatePublished - Jun 2013

Bibliographical note

Funding Information:
This research was supported in part by HL61284 (to J.R.F.) from the National Institutes of Health.

Keywords

  • Congenital heart defects
  • Glycogen storage diseases
  • Interstitial lung diseases
  • Neonatal respiratory distress syndrome
  • Persistent pulmonary hypertension of the newborn

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