scholarly journals Pulmonary Alveolar Microlithiasis

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Kevan Mehta ◽  
Sharon Dell ◽  
Catherine Birken ◽  
Suhail Al-Saleh
Keyword(s):  
Lung Biopsy ◽  
Autosomal Recessive ◽  
Definitive Diagnosis ◽  
Chest Imaging ◽  
Imaging Diagnosis ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
Autosomal Recessive Condition ◽  
Alveolar Microlithiasis ◽  
Physical Findings

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition that is often asymptomatic despite significant changes in chest imaging. Diagnosis is often made when patients become symptomatic in adulthood. There are still no proven treatments, but earlier diagnosis may allow for evaluation of preventative strategies that could improve outcome. It is an important diagnosis to consider in children who have marked radiographic findings with no or very mild symptoms or physical findings. Diagnosis can be made with imaging alone but may necessitate lung biopsy for definitive diagnosis.

scholarly journals Pulmonary alveolar microlithiasis: no longer in the stone age

2020 ◽  
Vol 6 (3) ◽  
pp. 00289-2020
Author(s):  
Elisabeth Bendstrup ◽  
Åsa Lina M. Jönsson
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Hereditary Disease ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
The World ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Disease Specific ◽  
Parenchymal Lung

Pulmonary alveolar microlithiasis (PAM) is a rare parenchymal lung disease caused by variants in the SCL34A2 gene and characterised by the accumulation of intra-alveolar microliths. PAM has been reported in fewer than 1100 cases throughout the world. It is an autosomal recessive hereditary disease and often associated with consanguinity. Progress with respect to the genetic background and pathophysiology has resulted in an increased understanding of the disease in recent years. Until now, 30 genetic different SLC34A2 variants have been reported, which all are considered significant for disease development. There is no sex difference and the majority of cases are diagnosed at the age of 30–40 years. Many patients are asymptomatic and the diagnosis is made at random. When symptomatic, dyspnoea, cough, chest pain and fatigue are common complaints. The diagnosis of PAM can confidently be based on typical radiographic findings and genetic testing proving rare biallelic SCL34A2 gene variants. Bronchoalveolar lavage and histopathology may show microliths. There is no disease-specific treatment and management is supportive. Lung transplantation should be considered in advanced cases.

scholarly journals Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Waleed Hafiz ◽  
Ahmedhusam Alahmed ◽  
Mohammed Alahmadi ◽  
Rakan Alotaibi ◽  
Abdullah Alsharif ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Autosomal Recessive ◽  
Lung Parenchyma ◽  
Systemic Autoimmune Disease ◽  
Pulmonary Alveolar Microlithiasis ◽  
Slow Progression ◽  
Autosomal Recessive Condition ◽  
Alveolar Microlithiasis ◽  
Synovial Membranes ◽  
Inflammatory Polyarthritis

Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. Most patients are diagnosed in adulthood due to the slow progression of the disease. Children with this disease are asymptomatic, and changes in the lung parenchyma are usually discovered incidentally. The diagnosis is made by the combination of a positive chest imaging and histological examination. Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by chronic seropositive symmetrical inflammatory polyarthritis with numerous extra-articular manifestations. It targets the lining of the synovial membranes, frequently affects females more than males, and is treated with the disease-modifying antirheumatic drugs (DMARDs). If left untreated, it leads to increased morbidity, mortality, and socioeconomic burdens. In this case, we report a 19-year-old young man who presented with clinical and radiographic features of PAM associated with RA.

scholarly journals Pulmonary Alveolar Microlithiasis(PAM)

2016 ◽  
Vol 27 (2) ◽  
pp. 40-43
Author(s):  
Devendra Nath Sarkar ◽  
Md Ismail Hossain ◽  
Md Mahmudul Haque ◽  
AKM Zahin ◽  
Md Shahin Miah ◽  
...  
Keyword(s):  
Chest Radiograph ◽  
Lung Biopsy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Laboratory Finding ◽  
Rare Condition ◽  
Definitive Treatment ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

PAM is a rare parenchymal Lung disease. Very few case report are available about PAM in Bangladesh. It is diagnosed incidentally during chest radiograph. It is a autosomal recessive disease and is associated with sporadic or familial mutation of SLC 34A2 gene. Many patients are asymptomatic and have either normal or restrictive pulmonary function. Some patients remain static and others progress into pulmonary dysfunction, respiratory failure and corpulmonale. The disease is usually discovered up to 40 years and there is no definitive treatment of this disease. Chest radiograph, HRCT used lung biopsy (transbronchial or open) are the main investigations. This patient come with chest pain and dyspnoea on exertion and nonproductive cough and diagnosed as PAM incidentally during chest radiograph. On the basis of clinical features and laboratory finding, we diagnosed him a case of PAM a very rare condition. As there is no definitive treatment, we treat himsymptomatically.Medicine Today 2015 Vol.27(2): 40-43

scholarly journals Misdiagnosis of Systemic Metastatic Melanoma for fungal infection: A case report

2021 ◽  
Author(s):  
Juan Sun ◽  
Yun-Zhu Zhu ◽  
Pan-Pan Shao ◽  
Jing Ke ◽  
Wei Wang ◽  
...  
Keyword(s):  
Fungal Infection ◽  
Lung Biopsy ◽  
Clinical Symptoms ◽  
Fungal Infections ◽  
Chest Imaging ◽  
Imaging Findings ◽  
Imaging Diagnosis ◽  
Puncture Wound ◽  
Chest Computed Tomography ◽  
Multiple Nodules

Abstract BackgroundMost of malignant melanomas originate from skin and often metastasize to the lungs, rarely metastasizes to the liver and bone. However, imageology characters of lung metastasis tumor are commonly similar to those of fungal infections. Case presentationA patient was admitted with unhealed plantar puncture wound for 3 years, and cough and expectoration for 2 years. The chest computed tomography (CT) revealed multiple nodules with cavities, and the patient was diagnosed of pulmonary fungal infection in another hospital and received antifungal therapy for more than 8 months, but the clinical symptoms and chest imaging findings continue to progress. After admission, the pathological results of both lung biopsy and biopsy of the plantar wound 3 years ago indicated malignant melanoma. ConclusionsThe diagnosis of lung lesions cannot rely solely on imaging diagnosis, lung biopsy should be performed if necessary.

Pulmonary Alveolar Microlithiasis

2011 ◽  
Vol 12 (1) ◽  
pp. 55-57 ◽  
Author(s):  
Balasubramaniam Gayathri ◽  
Sivanmani Keerthivasan
Keyword(s):  
High Resolution ◽  
Lung Biopsy ◽  
Calcium Deposition ◽  
Ct Guided ◽  
X Ray ◽  
Pulmonary Alveolar Microlithiasis ◽  
Abnormal Chest ◽  
Chest X Ray ◽  
Alveolar Microlithiasis ◽  
Idiopathic Disease

Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease characterized by microliths in the lungs which is usually asymptomatic and often diagnosed incidentally. Here we discuss a case of a young woman while evaluating for surgery presented with an abnormal chest X ray of bilateral diffuse nodular opacities. Patient was completely asymptomatic. High resolution CT scan revealed crazy paving pattern, black pleura sign, and pleural calcification typical findings of pulmonary alveolar microlithiasis. CT guided lung biopsy confirmed the diagnosis. Keyword: Black pleura sign; calcium deposition; crazy paving pattern; pulmonary alveolar microlithiasis DOI: 10.3329/jom.v12i1.6111J Medicine 2011; 12 : 55-57

scholarly journals Pulmonary Alveolar Microlithiasis: A Rare Lung Disease Diagnosed by Thoracoscopic Lung Biopsy

2005 ◽  
Vol 7 ◽  
pp. 68-69
Author(s):  
G L Rajbhandari
Keyword(s):  
Lung Disease ◽  
Lung Biopsy ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

Pulmonary Alveolar Microlithiasis: A Rare Lung Disease Diagnosed by Thoracoscopic Lung Biopsy

scholarly journals Two Cases of Pulmonary Alveolar Microlithiasis in a Family

2013 ◽  
Vol 14 (1) ◽  
pp. 80-82
Author(s):  
Mansouri Fariba ◽  
Kavianpour Mohamad Ali
Keyword(s):  
Early Childhood ◽  
Ct Scan ◽  
Male Patient ◽  
Autosomal Recessive ◽  
Unknown Etiology ◽  
Autosomal Recessive Form ◽  
Pulmonary Alveolar Microlithiasis ◽  
Mediterranean Countries ◽  
Recessive Form ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis is a disease of unknown etiology. The disorder affects people at every age beginning from the early childhood. It usually occurs in a sporadic form, but an autosomal recessive form has been described, especially in patients from the Mediterranean countries. Our cases were in one family. A 44 years old man and his younger(35 years old) sister. Both of them complaint of dyspnea, bluish discolouration of face and extremities (acrocyanosis), clubbing, and coughing We evaluate both of them. These are findings in the male patient, and his sister had very similar findings. CXR and CT scan findings imply that we had 2 case of pulmonary alveolar microlithiasis (PAM). DOI: http://dx.doi.org/10.3329/jom.v14i1.14583 J MEDICINE 2013; 14 : 80-82

scholarly journals Pulmonary Alveolar Microlithiasis: A Case Report with Emphasis on Imaging Findings

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Guilherme Abdalla ◽  
Edson Marchiori ◽  
Gláucia Zanetti ◽  
Antonio Mucillo ◽  
Mariana Leite Pereira ◽  
...  
Keyword(s):  
Case Report ◽  
High Resolution ◽  
Lung Biopsy ◽  
Shortness Of Breath ◽  
Imaging Findings ◽  
Alveolar Space ◽  
Pulmonary Alveolar Microlithiasis ◽  
Ground Glass Attenuation ◽  
History Of ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the presence of small calculi in the alveolar space. The authors report a case of a 21-year-old man with a 2-year history of shortness of breath on exertion and dry cough. Physical examination was altered only for crackles at auscultation. Pulmonary function revealed a mild restrictive ventilatory defect and the chest radiograph demonstrated paracardiac confluence of dense micronodular infiltrate. High-resolution CT scan revealed diffuse ground glass attenuation and septal thickening, more pronounced in lower pulmonary regions, with calcifications along the interlobar septa and subpleural regions. A transbronchial lung biopsy confirmed the diagnosis of PAM.

PULMONARY ALVEOLAR MICROLITHIASIS: A LITERATURE REVIEW AND CASE REPORT OF A LUNG BIOPSY-CONFIRMED DISEASE IN AN INFANT

2021 ◽  
Vol 100 (5) ◽  
pp. 170-175
Author(s):  
D.Yu. Ovsyannikov ◽  
◽  
O.V. Alekseeva ◽  
R.V. Taniya ◽  
P.A. Frolov ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Interstitial Lung Disease ◽  
Literature Review ◽  
Lung Disease ◽  
Lung Biopsy ◽  
Clinical Observation ◽  
X Ray ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

The article provides up-to-date information on epidemiology, etiology, genetics, pathogenesis, pathomorphology, clinical manifestation, X-ray and computed tomography (CT) semiotics, features in childhood, treatment of a rare genetic interstitial lung disease – pulmonary alveolar microlithiasis (PAM). A clinical observation of a child with PAM manifestation, confirmed by lung biopsy in infancy, is presented. The results of X-ray and CT of the patient's chest organs are presented, the unique features of the course of the disease are listed.

scholarly journals Can chest high-resolution computed tomography findings diagnose pulmonary alveolar microlithiasis?

2015 ◽  
Vol 48 (4) ◽  
pp. 205-210 ◽  
Author(s):  
Flávia Angélica Ferreira Francisco ◽  
Rosana Souza Rodrigues ◽  
Miriam Menna Barreto ◽  
Dante Luiz Escuissato ◽  
Cesar Augusto Araujo Neto ◽  
...  
Keyword(s):  
Computed Tomography ◽  
High Resolution ◽  
Lung Biopsy ◽  
Lung Parenchyma ◽  
Ground Glass ◽  
High Resolution Computed Tomography ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

Abstract Objective: The present study was aimed at retrospectively reviewing high-resolution computed tomography (HRCT) findings in patients with pulmonary alveolar microlithiasis in order to evaluate the frequency of tomographic findings and their distribution in the lung parenchyma. Materials and Methods: Thirteen patients (9 females and 4 males; age, 9 to 59 years; mean age, 34.5 years) were included in the present study. The HRCT images were independently evaluated by two observers whose decisions were made by consensus. The inclusion criterion was the presence of abnormalities typical of pulmonary alveolar microlithiasis at HRCT, which precludes lung biopsy. However, in 6 cases lung biopsy was performed. Results: Ground-glass opacities and small parenchymal nodules were the predominant tomographic findings, present in 100% of cases, followed by small subpleural nodules (92.3%), subpleural cysts (84.6%), subpleural linear calcifications (69.2%), crazy-paving pattern (69.2%), fissure nodularity (53.8%), calcification along interlobular septa (46.2%) and dense consolidation (46.2%). Conclusion: As regards distribution of the lesions, there was preferential involvement of the lower third of the lungs. No predominance of distribution in axial and anteroposterior directions was observed.

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