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Related Experiment Videos

Pulmonary alveolar microlithiasis in children

H Schmidt1, U Lörcher, R Kitz

  • 1Center of Diagnostic Radiology, JWG University Frankfurt, Theodor-Stern-Kai 7, D-60596 Frankfurt, Germany.

Pediatric Radiology
|January 1, 1996
PubMed
Summary

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease. This study identified two siblings with PAM, suggesting autosomal recessive inheritance and potential disease progression.

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Area of Science:

  • Pulmonology
  • Genetics
  • Radiology

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by diffuse intra-alveolar calcifications.
  • Genetic factors are implicated in PAM, with a suspected autosomal recessive inheritance pattern.

Purpose of the Study:

  • To present two asymptomatic siblings diagnosed with pulmonary alveolar microlithiasis.
  • To investigate the inheritance pattern and potential progression of PAM.
  • To explore the co-occurrence of PAM with Waardenburg-anophthalmia syndrome.

Main Methods:

  • Diagnosis confirmed via transbronchial lung biopsy and bronchoalveolar lavage.
  • High-resolution computed tomography (HRCT) and chest radiography used to assess lung parenchyma.
  • Family history and genetic analysis to determine inheritance patterns.

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Main Results:

  • Two asymptomatic siblings, a 4-year-old boy and a 7-year-old sister, were diagnosed with PAM.
  • HRCT revealed widespread, sharply defined intra-alveolar calcifications (<1 mm) in both lungs.
  • Autosomal recessive inheritance was confirmed in the family; the elder sibling showed more severe disease, suggesting progression. The affected girl also had Waardenburg-anophthalmia syndrome.

Conclusions:

  • The combination of bronchoalveolar lavage and HRCT findings is pathognomonic for PAM.
  • PAM likely follows an autosomal recessive inheritance pattern.
  • The co-occurrence of PAM and Waardenburg-anophthalmia syndrome warrants further investigation for potential contiguous gene effects or chance occurrence.