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Pulmonary interstitial glycogenosis in a patient with trisomy 21

A K Morrison1, M Patel2, S L Johnson3

  • 1Department of Pediatrics, University of Virginia, Charlottesville, VA, USA; (Currently Department of Pediatrics, Division of Cardiology, Nationwide Children's Hospital).

Journal of Neonatal-Perinatal Medicine
|May 21, 2016
PubMed

Insights

Pulmonary interstitial glycogenosis, a rare childhood lung disease, was observed in a premature infant with trisomy 21. This case highlights the association between this lung condition, Down syndrome, and heart defects.

Area of Science:

  • Pediatric Pulmonology
  • Neonatology
  • Medical Genetics

Background:

  • Pulmonary interstitial glycogenosis (PIG) is an increasingly recognized interstitial lung disease in children.
  • PIG is characterized by glycogen accumulation within interstitial cells of the lungs.
  • The etiology and specific associations of PIG are still being elucidated.

Observation:

  • A case report of a 34-week premature infant presenting with respiratory distress.
  • The infant was diagnosed with pulmonary interstitial glycogenosis.
  • Co-existing conditions included trisomy 21 (Down syndrome), pulmonary arterial hypertension, and congenital heart disease.

Findings:

  • This case demonstrates a potential association between pulmonary interstitial glycogenosis and trisomy 21.
  • The presence of pulmonary arterial hypertension and congenital heart disease in this context warrants further investigation.
  • Histopathological findings confirmed PIG in the premature infant.

Implications:

  • This case expands the known clinical spectrum associated with pulmonary interstitial glycogenosis.
  • Understanding these associations may improve diagnostic approaches and management strategies for infants with PIG, trisomy 21, and cardiac anomalies.
  • Further research is needed to explore the underlying mechanisms linking these conditions.

Keywords:
Pulmonary interstitial glycogenosislung pathologyneonatal pulmonary diseasetrisomy 21

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