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Pediatr Pulmonol. 2019 Jun;54(6):837-846. doi: 10.1002/ppul.24324. Epub 2019 Mar 25.

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

Author information

1
Division of Pediatric Respiratory Medicine, Hospital Universitario Donostia, San Sebastián, Spain.
2
Department of Pediatrics, University of the Basque Country (UPV/EHU), San Sebastián, Spain.
3
Pediatric Allergy, Pulmonary and Cystic Fibrosis Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
4
Departament of Pediatrics, Obstetrics, Gynecology, Preventive Medicine and Public Health, Universitat Autònoma de Barcelona, Barcelona, Spain.
5
Pathology and Laboratory Medicine, Children's Hospitals and Clinics of Minnesota, Minneapolis-St. Paul, Minnesota.
6
Department of Pediatrics, University of Colorado School of Medicine, Colorado.
7
Pathology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
8
Pediatric Radiology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
9
Department of Pediatrics, Hospital Marqués de Valdecillas, Santander, Spain.
10
Department of Pediatrics, Hospital de Ourense, Ourense, Spain.
11
Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
12
Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain.
13
Department of Pediatrics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
14
Biomedical Research Centre Network for Respiratory Diseases (CIBERES), San Sebastián, Spain.

Abstract

INTRODUCTION:

Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder.

METHODS:

This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases.

RESULTS:

All patients presented with tachypnea. Additionally, seven patients had breathing difficulties and hypoxemia. Abnormalities in chest-computerized tomography (CT) with a pattern of ground-glass opacity, septal thickening, and air trapping were observed in all individuals, with images suggesting abnormal alveolar growth (parenchymal bands and architectural distortion). All lung biopsies showed alveolar simplification associated with an increased number of interstitial cells, which appeared as accumulated cytoplasmic glycogen. In the follow-up, all patients were asymptomatic. The respiratory function test was normal in only two patients. Five children showed an obstructive pattern, and two children showed a restrictive pattern. Chest-CT, performed after an average of 6.5 years since the initial investigation, revealed a partial improvement of the ground-glass opacity pattern; however, relevant alterations persisted.

CONCLUSION:

Although the patients with PIG in the absence of other associated pathologies had a good clinical outcome, significant radiographic alterations and sequelae in lung function were still observed after a median follow-up of 12 years, suggesting that PIG is a marker of some other persistent abnormalities in lung growth, which have effects beyond the symptomatic period.

KEYWORDS:

abnormal alveolar growth; interstitial lung disease; pulmonary interstitial glycogenosis

PMID:
30912317
DOI:
10.1002/ppul.24324

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