An infant with pulmonary interstitial glycogenosis: Clinical improvement is associated with improvement in the pulmonary diffusion capacity

Zarmina Ehsan, Gregory Montgomery, Christina Tiller, Jeffrey Kisling, Daniel V. Chang, Robert Tepper

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Pulmonary interstitial glycogenosis (PIG) is an idiopathic interstitial lung disease of infants. The underlying pulmonary pathophysiology of PIG has not been well characterized. Herein we report a term-gestatation infant who presented with persistent tachypnea and hypoxia. A chest CT scan demonstrated a diffuse ground glass appearance and lung biopsy demonstrated increased alveolar septae cellularity with glycogen-containing cells, consistent with a diagnosis of PIG. At 3 months of age, pulmonary function testing included: pre- and post-bronchodilator forced expiratory flows using the raised-volume technique and the ratio of pulmonary diffusing capacity for carbon monoxide to alveolar volume (DLCO/VA). He was prescribed 5 days of oral prednisolone (2 mg/kg/day) and pulmonary function testing (PFT) was repeated at 5, 13, and 20 months of age. Initial PFTs demonstrated reduced forced vital capacity (FVC: Z-score = -2.36) and an increased ratio of forced expiratory volume in 0.5 sec to FVC (FEV0.5/FVC: Z-score = 1.15) with no significant change following an inhaled bronchodilator. There was also a marked reduction in DLCO/VA (Z-score = -4.74) compared to age-matched controls. Follow-up demonstrated progressive clinical improvement as well as an increase in Z-FVC and normalization of DLCO/VA. Our in vivo physiological findings are consistent with previous reports that symptom resolution correlated with histological thinning of the alveolar septae upon repeat lung biopsy. The restrictive lung disease we observed is consistent with expected reduced compliance of an alveolar interstitial lung process like PIG, whereas the absence of a reduction in FEV0.5/FVC confirms the absence of obstructive airway disease.

Original languageEnglish
JournalPediatric Pulmonology
Volume49
Issue number3
DOIs
StatePublished - Mar 2014

Fingerprint

Glycogen Storage Disease
Lung Volume Measurements
Lung
Bronchodilator Agents
Pulmonary Diffusing Capacity
Biopsy
Tachypnea
Interstitial Lung Diseases
Vital Capacity
Forced Expiratory Volume
Carbon Monoxide
Prednisolone
Glycogen
Lung Diseases
Compliance
Glass
Thorax

Keywords

  • pulmonary diffusion capacity
  • pulmonary interstitial glycogenosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

Cite this

An infant with pulmonary interstitial glycogenosis : Clinical improvement is associated with improvement in the pulmonary diffusion capacity. / Ehsan, Zarmina; Montgomery, Gregory; Tiller, Christina; Kisling, Jeffrey; Chang, Daniel V.; Tepper, Robert.

In: Pediatric Pulmonology, Vol. 49, No. 3, 03.2014.

Research output: Contribution to journalArticle

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