Non-neoplastic Disorders of the Lower Respiratory Tract

The term ‘interstitial lung disease’ (ILD) refers to a group of disorders involving both the airspaces and tissue compartments of the lung, and these disorders are more accurately termed diffuse lung diseases. Although rare, they are associated with significant morbidity and mortality, with the prognosis depending upon the specific diagnosis. The major categories of ILD in children that present in the neonatal period include developmental disorders, growth disorders, surfactant dysfunction disorders, and specific conditions of unknown etiology unique to infancy. Whereas lung histopathology has been the gold standard for the diagnosis of ILD, as many of the disorders have a genetic basis, non-invasive diagnosis is feasible, and characteristic clinical and imaging features may allow for specific diagnosis in some circumstances. The underlying mechanisms, clinical, imaging, and lung pathology features and outcomes of ILD presenting in newborns are reviewed with an emphasis on genetic mechanisms and diagnosis.

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Interstitial Lung Disease in Newborns

Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders

Pulmonary interstitial glycogenosis - A systematic analysis of new cases.

Introduction: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. Case report: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization. Lung tissue histopathology showed glycogen positive staining of the interstitial cells, consistent with PIG. Conclusion: This unique case demonstrates that pulmonary hypertension can be seen in the setting of PIG without associated cardiac anomalies, and persists despite treatment in an otherwise self-limited condition.

Persistent Pulmonary Hypertension Without Underlying Cardiac Disease as a Presentation of Pulmonary Interstitial Glycogenosis.

Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. The boy was treated with glucocorticoids and, after a few days, was weaned from ECMO. A few hours later, the patient died due to acute severe pulmonary hypertension with acute right ventricular failure. The etiology and underlying pathogenic mechanisms of PIG are unknown. The clinical outcomes are quite varied. Deaths have been reported when PIG exists with abnormal lung development and pulmonary vascular growth and congenital heart disease. No mortality has been reported in PIG together with BPD in full-term infants. In this article, we reported on a full-term infant with interstitial changes resembling PIG and BPD who expired despite no convincing evidence of an anatomical maturational arrest or congenital heart disease.

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Bettina F. Loza

Papers

Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia.