Unusual Presentation of Pulmonary Interstitial Glycogenosis: A Case Report Study

Pulmonary interstitial glycogenosis (PIG) is a kind of children’s interstitial lung disease (ChILD). This is exclusively limited to neonates and infants. Often, PIG is diagnosed in the lung biopsy in a short time after birth (usually < 6 months). Most cases of PIG in infants are symptomatic within the first days to weeks of life. PIG expresses itself with diverse clinical symptoms such as tachypnea and hypoxia and may lead to acute respiratory failure in neonates. Case Presentation: In this case report study, we presented a 1.5-year-old boy with the chief complaint of stage 4 clubbing in fingers and toes. Mild chest deformity was observed in his physical exam. No evidence of respiratory and cardiac complications was observed. Initial lab tests and further specific studies were normal. His parents did not mention the history of any diseases in this patient. His chest X-ray (CXR) showed hyperinflated lungs, diffuse bilateral interstitial infiltration, and hazy opacities. Ground glass opacities (GGO) and interlobular septal thickening and cystic changes with reversed halo sign in both lungs were observed in his chest computerized tomography (CT). Finally, pulmonary biopsy showed a high level of glycogen-laden mesenchymal cells in the interstitium of alveoli, and vimentin-positive interstitial infiltration in lung parenchyma confirmed the PIG diagnosis. Conclusions: The new manifestation of PIG, which has been reported in this case, can be beneficial for future diagnoses of PIG.