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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
Abstract:
We report two cases of pulmonary alveolar microlithiasis (PAM) in siblings. The male child was diagnosed initially and family screening led to the diagnosis of the asymptomatic sister. The diagnosis was confirmed by high resolution computed tomography (HRCT) and bone scintigraphy which demonstrated the calcific nature of the lesions. We emphasize the importance of family screening of PAM index cases to detect the disease in the early, asymptomatic stage.
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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