A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection

With growing reports of severe presentations in children, increasing our genetic understanding of pulmonary alveolar microlithiasis (PAM) is crucial. We describe a 6-month-old infant presenting with bronchiolitis, with deterioration due to disseminated Pseudomonas infection, with novel homozygosity of a variant in SLC34A2, and with pulmonary calcospherites on postmortem analysis, in keeping with PAM.