Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course

Abstract

The P.I.G. phenotype has not been comprehensively described, and poor recognition and misconceptions about P.I.G. persist. P.I.G. is a disease that presents in early infancy, requires significant medical intervention, and frequently is seen in association with alveolar simplification and/or cardiovascular disease. CT findings include ground glass opacities and cysts. Patients should be monitored for pulmonary hypertension. Without life-threatening comorbidities, many patients do well over time, although respiratory symptoms may persist into adolescence.

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

“…Some decreases in air trapping, septal thickening, lower architectural distortion, parenchymal bands, and peripheral triangular images were observed. However, relevant alterations persisted, similar to the cases reported in the literature . It has been hypothesized that the improvement in the ground‐glass pattern suggests that PIG improves over time, while changes consistent with alveolar simplification might persist …”

“…The literature also reported cases in which PIG is associated with other pathologies, particularly those related to major disorders in lung development. These associations sometimes predict an unfavorable clinical course …”

“…However, in cases with more intense symptoms, such as hypoxemia or low weight gain, a lung biopsy can establish a diagnosis that facilitates prognostic assessment. However, biopsy is the gold standard for PIG diagnosis, as there is no specific clinical, radiological or genetic marker, and milder forms of the disease, which might not warrant a lung biopsy, remain undiagnosed …”

“…In these cases, interstitial glycogenosis is usually patchy and does not constitute the main pathological abnormality. Although PIG contributes to the clinical presentation, the associated alterations influence the clinical evolution and prognosis of the disease, which might become fatal in some cases Patients with isolated PIG not associated with other disorders, in which PIG is the main abnormality.…”

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

“…Pulmonary interstitial glycogenosis is an idiopathic form of chILD that, like NEHI, typically presents during infancy with tachypnea and hypoxemia. Liptzin et al reported clinical findings and long‐term follow‐up on 24 patients with biopsy‐proven interstitial glycogenosis from Children's Hospital Colorado. Histology revealed patchy and diffuse disease in equal numbers.…”