Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature

Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disease characterized by intraalveolar psammomatous calcium phosphate deposition. Patients with PAM are often asymptomatic until the third or fourth decade, when they most frequently develop symptoms including dyspnea, and...

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Main Authors: Caroline T. Simon, MD, Toby C. Lewis, MD, MPH, Fatima Neemuchwala, MD, Manuel Arteta, MD, Raja Rabah, MD
Format: Article
Language:English
Published: Elsevier 2018-09-01
Series:Human Pathology: Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S221433001830004X
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spelling doaj-6f18d463cd8944798e5a40eafa2af2ae2020-11-25T00:10:42ZengElsevierHuman Pathology: Case Reports2214-33002018-09-01133335Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literatureCaroline T. Simon, MD0Toby C. Lewis, MD, MPH1Fatima Neemuchwala, MD2Manuel Arteta, MD3Raja Rabah, MD4Department of Pathology, University of Michigan Health System, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA; Corresponding author at: Department of Pathology, University of Michigan Health System, 1500 E. Medical Center Drive, USA.Department of Pediatrics, University of Michigan Health System, 1522 Simpson Road East, Ann Arbor, MI 48109, USADepartment of Pediatrics, University of Michigan Health System, 1522 Simpson Road East, Ann Arbor, MI 48109, USADepartment of Pediatrics, University of Michigan Health System, 1522 Simpson Road East, Ann Arbor, MI 48109, USADepartment of Pathology, University of Michigan Health System, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USAPulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disease characterized by intraalveolar psammomatous calcium phosphate deposition. Patients with PAM are often asymptomatic until the third or fourth decade, when they most frequently develop symptoms including dyspnea, and dry cough. Only one-third of the reported patients are under twenty years of age and manifestation during infancy is extremely rare. We present a case of an infant with chronic respiratory symptoms including tachypnea, retractions, crackles, and hypoxia since 2 months of age. Chest computed topography at age 8 months showed bilateral diffuse ground glass opacities and septal thickening suggestive of interstitial lung disease. Lung biopsy showed numerous intraalveolar calcified laminated structures consistent with PAM. Genetic testing confirmed the diagnosis, demonstrating a previously unreported mutation c.524-18_559del in the SLC34A2 gene. Keywords: Pulmonary alveolar microlithiasis, Solute family member 2http://www.sciencedirect.com/science/article/pii/S221433001830004X
collection DOAJ
language English
format Article
sources DOAJ
author Caroline T. Simon, MD
Toby C. Lewis, MD, MPH
Fatima Neemuchwala, MD
Manuel Arteta, MD
Raja Rabah, MD
spellingShingle Caroline T. Simon, MD
Toby C. Lewis, MD, MPH
Fatima Neemuchwala, MD
Manuel Arteta, MD
Raja Rabah, MD
Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
Human Pathology: Case Reports
author_facet Caroline T. Simon, MD
Toby C. Lewis, MD, MPH
Fatima Neemuchwala, MD
Manuel Arteta, MD
Raja Rabah, MD
author_sort Caroline T. Simon, MD
title Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
title_short Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
title_full Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
title_fullStr Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
title_full_unstemmed Pulmonary alveolar microlithiasis: A case report with a novel mutation in the SLC34A2 gene and review of the literature
title_sort pulmonary alveolar microlithiasis: a case report with a novel mutation in the slc34a2 gene and review of the literature
publisher Elsevier
series Human Pathology: Case Reports
issn 2214-3300
publishDate 2018-09-01
description Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disease characterized by intraalveolar psammomatous calcium phosphate deposition. Patients with PAM are often asymptomatic until the third or fourth decade, when they most frequently develop symptoms including dyspnea, and dry cough. Only one-third of the reported patients are under twenty years of age and manifestation during infancy is extremely rare. We present a case of an infant with chronic respiratory symptoms including tachypnea, retractions, crackles, and hypoxia since 2 months of age. Chest computed topography at age 8 months showed bilateral diffuse ground glass opacities and septal thickening suggestive of interstitial lung disease. Lung biopsy showed numerous intraalveolar calcified laminated structures consistent with PAM. Genetic testing confirmed the diagnosis, demonstrating a previously unreported mutation c.524-18_559del in the SLC34A2 gene. Keywords: Pulmonary alveolar microlithiasis, Solute family member 2
url http://www.sciencedirect.com/science/article/pii/S221433001830004X
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