Pulmonary alveolar microlithiasis in siblings

Rajoo Thapa1, Debasree Ganguly, Apurba Ghosh

  • 1Department of Pediatrics, The Institute of Child Health, Kolkata 700 017, India. rajoothapa@yahoo.co.in

Indian Pediatrics
|March 4, 2008
PubMed

Insights

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease. Family screening of diagnosed patients is crucial for early detection of asymptomatic cases, as seen in two siblings.

Area of Science:

  • Pulmonology
  • Genetics
  • Radiology

Background:

  • Pulmonary alveolar microlithiasis (PAM) is an extremely rare, diffuse lung disease characterized by the accumulation of calcospherites in the alveoli.
  • Genetic predisposition is suggested in familial cases, although the exact inheritance pattern remains unclear.

Observation:

  • Two siblings presented with Pulmonary alveolar microlithiasis (PAM).
  • The initial diagnosis was made in a male child, prompting family screening.
  • Screening identified an asymptomatic sister, highlighting the potential for silent disease progression.

Findings:

  • High-resolution computed tomography (HRCT) and bone scintigraphy confirmed the diagnosis.
  • Imaging revealed the characteristic calcific nature of the alveolar microliths.
  • The asymptomatic sister's diagnosis underscores the utility of proactive screening.

Implications:

  • Early detection of Pulmonary alveolar microlithiasis (PAM) is possible through systematic family screening of index cases.
  • Identifying asymptomatic individuals allows for timely monitoring and potential intervention.
  • This case series emphasizes the importance of a familial approach in diagnosing rare genetic lung diseases.

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