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Pulmonary Alveolar Microlithiasis: A Case Report.

Rashid Al Umairi¹, Fatma Al Lawati², Mahmood Al-Riyami¹

¹Department of Radiology, Royal Hospital, Muscat, Oman.

Oman Medical Journal

|April 25, 2020

Summary

This summary is machine-generated.

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease caused by genetic mutations leading to calcium phosphate crystal buildup. This case highlights diagnostic findings in a 33-year-old Omani male patient.

Keywords:

Oman Rare Diseases Tomography, X-Ray Computed

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Area of Science:

Pulmonary Medicine
Genetics
Radiology

Background:

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disorder.
It stems from mutations in the SLC34A2 gene, affecting phosphate transport.
This leads to calcium phosphate crystal deposition in lung alveoli.

Observation:

A 33-year-old Omani male presented with fever and dyspnea.
Radiographic imaging showed bilateral dense consolidations.
CT scans revealed interlobular thickening and consolidations, predominantly in the lower lungs.

Findings:

Imaging findings were highly suggestive of Pulmonary alveolar microlithiasis.
Diagnosis was confirmed via bronchoalveolar lavage.
The case illustrates a typical presentation of this rare condition.

Implications:

Early diagnosis of PAM is crucial for managing potential complications.
Understanding the genetic basis aids in identifying at-risk individuals.
This case contributes to the literature on rare pulmonary diseases and their diagnosis.