Related Experiment Videos
Pulmonary alveolar microlithiasis in children
1Center of Diagnostic Radiology, JWG University Frankfurt, Theodor-Stern-Kai 7, D-60596 Frankfurt, Germany.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease. This study identified two siblings with PAM, suggesting autosomal recessive inheritance and potential disease progression.
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.
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.
Abstract:
Two asymptomatic Turkish sibs are presented, a 4-year-old boy and his 7-year-old sister, with pulmonary alveolar microlithiasis (PAM) confirmed by transbronchial lung biopsy and bronchoalveolar lavage. Chest radiographs and high resolution CT demonstrated widespread intra-alveolar calcifications in both lungs. The lesions were sharply defined and less than 1 mm in diameter. CT documented a high concentration of microliths along the bronchovascular bundles, the intralobular fissure and the (sub)pleural lung parenchyma. The combination of bronchoalveolar lavage and roentgenographic appearance in high resolution CT are characteristic and pathognomonic, and can confirm the diagnosis. The more severe changes in the elder sib and the radiographic controls suggest that the pulmonary disease may be progressive in our patients. The described family of consanguineous, unaffected parents with two affected and one healthy child confirmed the autosomal recessive inheritance of PAM (McKusick 265100). In addition, the affected girl had autosomal recessive Waardenburg-anophthalmia syndrome (McKusick 206920), raising the question of whether this is a chance occurrence or possibly a contiguous gene syndrome.