Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy

Pediatr Cardiol. 2013 Feb;34(2):462-6. doi: 10.1007/s00246-012-0311-y. Epub 2012 Mar 28.

Abstract

A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors' knowledge, the association of pulmonary interstitial glycogenosis and hypertrophic cardiomyopathy has not been reported previously. The authors have broadened the phenotype of pulmonary interstitial glycogenosis and demonstrate the diagnostic value of lung biopsy in cases of unexplained neonatal pulmonary hypertension.

MeSH terms

  • Abnormalities, Multiple*
  • Biopsy
  • Cardiomyopathy, Hypertrophic / congenital
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Diagnosis, Differential
  • Echocardiography
  • Glycogen Storage Disease / diagnosis*
  • Humans
  • Hypertension, Pulmonary / congenital
  • Hypertension, Pulmonary / diagnosis*
  • Infant, Newborn
  • Lung Diseases / congenital
  • Lung Diseases / diagnosis*
  • Male
  • Pulmonary Alveoli / pathology*