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Spontaneous pneumomediastinum and subcutaneous emphysema secondary to pulmonary alveolar microlithiasis

Fuat Erel1, Candan Güngör2, Nurhan Sarıoğlu1

  • 1Department of Chest Diseases, Balıkesır University Faculty of Medicine, Balıkesir, Turkey.

Tuberkuloz Ve Toraks
|September 28, 2021
PubMed

Insights

Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease. This case highlights unusual presentations like pneumomediastinum in PAM patients.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Radiology

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder.
  • Characterized by the accumulation of calcium phosphate microliths within the alveoli.
  • Caused by mutations in the SLC34A2 gene.

Observation:

  • A 40-year-old female presented with cough, chest pain, and sputum.
  • Imaging revealed pneumomediastinum and subcutaneous emphysema, previously unreported in PAM.
  • Bronchoalveolar lavage confirmed the diagnosis.

Findings:

  • The case demonstrated atypical clinical and radiological manifestations of PAM.
  • Pneumomediastinum and subcutaneous emphysema were observed, expanding the known clinical spectrum.
  • Histopathological verification may be necessary for definitive diagnosis despite CT findings.

Implications:

  • This case expands the understanding of rare lung diseases like PAM.
  • Highlights the importance of considering atypical presentations in diagnosis.
  • Suggests further research into the varied manifestations of PAM.

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