Introduction Pulmonary interstitial glycogenosis (PIG) is a distinct interstitial lung disease of infancy, considered within the spectrum of alveolar simplification disorders. Diagnosis can be challenging and is confirmed by lung biopsy showing glycogen granules within interstitial spindle-shaped cells. The overall prognosis is encouraging but therapeutic interventions lack standardization. This case report describes a 10 month-old male with Trisomy 21, hybrid congenital pulmonary lesion, and congenital heart disease, who was also found to have PIG on lung biopsy. Description A full-term male baby with antenatal concerns for Trisomy 21, left-sided chest mass, suspected to be congenital pulmonary airway malformation (CPAM) and atrial septal defect (ASD) presented with neonatal respiratory distress requiring noninvasive positive pressure ventilation for the first 24 hours of life. A left pneumothorax developed on the second day and was managed conservatively. Post-natal echocardiography confirmed the ASD and showed a large bidirectional patent ductus arteriosus (PDA). A chest CT scan confirmed the large left lower lobe CPAM with additional findings of left intra-lobar bronchopulmonary sequestration, a large right aorto-pulmonary collateral, bilateral ground-glass opacities and peripheral clustering of cysts. Due to persistent tachypnea and hypoxemia, left lower lobe resection of mass was performed at 4 weeks. Pathology surprisingly demonstrated findings consistent with PIG in addition to CPAM type 2. He remained oxygen dependent at discharge with feeding via both nasogastric tube and oral trials. There were several subsequent admissions for respiratory distress in the absence of viral infections. At 3 months, echocardiography revealed increased pulmonary arterial pressure and chest-x-ray showed pulmonary vascular congestion. A trans-catheter PDA closure and right aorto-pulmonary collateral ligation were performed, with insignificant improvement in his respiratory status. He further showed poor weight gain. During an admission at 7 months, oral feeding was stopped due to aspiration concerns. At 9 months, due to persistent respiratory signs, he received pulse dose of IV steroids. A gastrostomy tube was concurrently placed given aspiration demonstrated on swallow evaluation. After a second dose of IV pulse steroids a month later, his respiratory status has dramatically improved with no tachypnea and minimal nocturnal oxygen requirement. Discussion To the best of our knowledge this is the first description of PIG associated with multiple pulmonary and cardiac anomalies. Treatment with steroids remains controversial. Benefits and side effects of steroids treatment needed to be weighed in this case in the light of the Covid-19 pandemic. The patient's respiratory status improved dramatically after two steroid pulses.
Pulmonary interstitial glycogenosis: A manifestation of pulmonary growth disorder in an infant with trisomy 21 and congenital pulmonary airway malformation