Pulmonary interstitial glycogenosis – A systematic analysis of new cases

“Pulmonary Interstitial Glycogenosis: Diagnostic Evaluation and Clinical Course,” written by Liptzin et al is a timely and insightful phenotypic summary of a rare pediatric interstitial lung disease. Twenty‐four infants with biopsy‐proven pulmonary interstitial glycogenosis (PIG) were reviewed at their center. Genetic analysis, bronchoscopy results, imaging, biopsy, and cardiology findings were described, and treatment decision and clinical outcomes were discussed.

supporting

confidence: 59%

Diagnostic and clinical course of pulmonary interstitial glycogenosis: The tip of the iceberg

Yonker

Kinane

2018

“…Many of the same authors also published detailed radiographic and histological correlates on a subset of 15 patients who underwent chest CT and biopsy within 3 months of each other . These and other recent case series from Europe and Canada further expand our knowledge of the phenotypic heterogeneity of pulmonary interstitial glycogenosis. As noted in an accompanying commentary, future investigations are needed to elucidate biomarkers and evaluate therapies more systematically.…”

Section: Rare Lung Diseasesmentioning

confidence: 78%

Pediatric Pulmonology Year in Review 2018: Rare lung disease, neuromuscular disease, and diagnostic testing

Gower

Birnkrant

Black

et al. 2019

Pediatric Pulmonology publishes original research, case reports, and review articles on topics related to a wide range of children's respiratory disorders. In this article, we highlight the past year's publications in the topic areas of rare lung diseases, respiratory complications of neuromuscular disorders, and diagnostic testing, as well as selected literature in these areas from other journals.

“…In isolated PIG, good results have been reported in patients treated with corticosteroids (oral or iv at monthly pulses), although poor outcomes have been published, especially in children with abnormal alveolar development and vasculopathy . A positive response to hydroxychloroquine was observed in one initial case in conjunction with steroids, but not in some recent series . Although the role played by corticosteroids in the pathophysiology of this disease is unclear, it is postulated that their effects are due to the acceleration of lung development rather than the suppression of inflammatory processes .…”

Section: Discussionmentioning

confidence: 98%

“…Below are two groups in which interstitial glycogenosis has been identified by pulmonary biopsy: Patients with different congenital lung pathologies, such as diffuse developmental disorders, alveolar growth abnormalities, including prematurity, congenital heart disease, pulmonary hypertension, congenital pulmonary airway malformations and congenital lobar emphysema, hyperplasia of pulmonary neuroendocrine cells, and cases of Noonan syndrome or mucopolysaccharidoses, or trisomy 21 . In these cases, interstitial glycogenosis is usually patchy and does not constitute the main pathological abnormality.…”

Section: Introductionmentioning

confidence: 99%

“…According to the first published case series and to case reports, most children with isolated PIG experienced a favorable clinical evolution with a few isolated exceptions, but to our knowledge, there is no detailed description of the long‐term functional and radiological outcome of these children. Recently, the outcome of children with PIG has been reported in three series of children from Canada, Europe, and USA, but the studies included mostly children with PIG associated with other lung or organ pathologies.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Sardón

Torrent‐Vernetta

Rovira‐Amigo

et al. 2019

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.