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.
Authors
- Joseph de Nanassy (ORCID: https://orcid.org/0000-0003-2649-2392)
- Jacob McCoy (ORCID: https://orcid.org/0009-0008-3948-0810)
- Lucy Perrem (ORCID: https://orcid.org/0000-0003-4970-8889)
- Anna-Theresa Lobos
Institutions
- University College Dublin (IE)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- Hospital for Sick Children (CA)
- Children's Health Ireland at Crumlin (IE)
- SickKids Foundation (CA)
Publication Details
- Journal
- PEDIATRICS
- Published
- 2025-04-16
- DOI
- https://doi.org/10.1542/peds.2024-068882
- Citations
- 1
- Primary Topic
- Medical Imaging and Pathology Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.52