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Decoding the Invisible: A Diagnostic Odyssey of Pulmonary Alveolar Microlithiasis From the Desert State of India,
Ramakant Dixit1, Mukesh Goyal1, Deepak Suthwal1
1Department of Respiratory Medicine, Jawaharlal Nehru Medical College, Ajmer, IND.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a rare depositional disorder that carries an autosomal recessive pattern of inheritance. It may present at any age and is usually detected incidentally with an abnormal chest X-ray. Most patients are asymptomatic or have minimal symptoms at the time of detection of the disease. Here, we report a case of a 30-year-old female patient who presented with an illness duration of six months and complaints of dry cough, chest pain, and shortness of breath. She was started on anti-tubercular treatment on clinical grounds by her physician, but was not relieved of her symptoms. This case highlights the importance of having PAM in the differential diagnosis. This is, to the best of our knowledge, the first case of PAM from Rajasthan, a desert state of India, in spite of many institutional and monetary challenges.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare genetic disorder. This case report emphasizes considering PAM in differential diagnoses, especially when initial treatments fail.
Area of Science:
- Pulmonary Medicine
- Rare Diseases
- Genetics
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder.
- It often presents asymptomatically and is incidentally detected via chest X-ray.
- Symptoms can include dry cough, chest pain, and shortness of breath.
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