Diagnosis Of Pulmonary Alveolar Microlithiasis Research Articles

Pulmonary alveolar microlithiasis: A case report.

An uncommon autosomal recessive condition called pulmonary alveolar microlithiasis (PAM) is characterized by the buildup of intra-alveolar calcifications inside the lung parenchyma. In this case report, a 16-year-old female patient with PAM is examined in-depth clinically and radiologically. The patient's radiographs revealed dense consolidation in both lungs. The diagnosis of PAM was confirmed by high-resolution computed tomography (HRCT), which showed bilateral, extensive and symmetrical distribution of the calcifications. We go over PAM's clinical presentation, imaging traits, diagnostic difficulties, and current therapeutic strategies. In order to provide a complete overview of this uncommon lung illness, we also evaluate relevant research.

Spectrum of Clinical Presentation of Pulmonary Alveolar Microlithiasis: Case Series from North India

We describe five cases of pulmonary alveolar microlithiasis (PAM) from North India with characteristic radiological and histopathological features. All patients were symptomatic with variable severity and duration of the symptoms and one patient developed cor-pulmonale during the course of follow-up. Diagnosis of PAM was suspected on the basis of classical sand-storm appearance on radiological examination and confirmed by transbronchial lung biopsy in four of the five cases. Apart from other features, presence of pleural and pericardial calcification in one case makes this discussion valuable. Awareness of this specific entity among the clinicians is essential to avoid unnecessary investigations.

Clinicopathological and imaging features of pulmonary alveolar microlithiasis in a dog \u2013 a case report

BackgroundThe aetiology of pulmonary alveolar microlithiasis (PAM) in animals is still unknown. In humans, this pulmonary disorder is a rare autosomal recessive disorder triggered by a mutation in the gene SLC34A2, which causes deposition and aggregation of calcium and phosphate in the pulmonary parenchyma with formation of microliths. Although histopathological examination is required for a definite diagnosis, in humans, imaging modalities such as computed tomography can demonstrate typical patterns of the disease. This is the first description of the computed tomographic (CT) features of a histologically confirmed PAM in dogs.Case presentationThe following report describes a case of a 7-year-old female Boxer dog evaluated for paroxysmal loss of muscle tone and consciousness with excitement. The main differential diagnoses considered were syncope, seizures, and narcolepsy-cataplexy. The results of the complete blood count, serum biochemistry panel, urinalysis, arterial blood pressure, echocardiography, abdominal ultrasound, Holter monitoring, and ECG were all within normal limits. Additional exams included thoracic radiographs, head and thorax CT, bronchoalveolar lavage (BAL), and CT-guided cytology. Thoracic radiographs revealed micronodular calcifications in the lungs, with sandstorm appearance. Computed tomography of the thorax showed the presence of numerous mineralized high-density agglomerates of multiple sizes throughout the pulmonary parenchyma, a reticular pattern with ground glass opacity and intense mineralized fibrosis of the pleural lining. Head CT was unremarkable. BAL and CT-guided cytology were inconclusive, but imaging features strongly suggest the diagnosis of PAM, which was histologically confirmed after necropsy.ConclusionsThis case report contributes to the clinicopathological and imaging characterization of pulmonary alveolar microlithiasis in dogs. In this species, the diagnosis of PAM should be considered when CT features evidence a reticular pattern with ground glass opacity and the presence of an elevated number and size of calcifications.

Pulmonary alveolar microlithiasis: no longer in the stone age

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.

A young female with miliary mottling in her chest X-ray

The presence of miliary nodular shadows in the chest radiograph although points to the classical diagnosis of miliary tuberculosis in endemic areas, persistence of these shadows on treatment and the disease presentation may alter the diagnosis. The combination of miliary mottling on chest radiograph along with the high-resolution computed tomography appearance of crazy-paving pattern with calcifications along the interlobular septa in the correct clinical context is considered diagnostic of pulmonary alveolar microlithiasis (PAM). The combination of above radiological features in one such case is presented here where histopathological examination of the lung proved the diagnosis of PAM.

Alveolar microlithiasis: A rare cause of breathlessness since childhood

Pulmonary alveolar microlithiasis (PAM) is an uncommon chronic disease characterized by calcifications within the alveoli and a paucity of symptoms in contrast to the imaging findings. It occurs sporadically and it is regarded as an autossomal recessive lung disease. The pathogenesis of PAM has yet to be elucidated. The disorder has a protracted course and there is no treatment available. We report a case of 21 years-old male who presented to us with complaint of exertional breathlessness since childhood. Diagnosis of pulmonary alveolar microlithiasis was made on the basis of clinical features and laboratory findings.

Pulmonary alveolar microlithiasis complicated by corpulmonale

Pulmonary alveolar microlithiasis is a rare,chronic lung disease with bilateral intra-alveolar calcium and phosphate deposition throughout the lung parenchyma. This is a case history of a 40- year-old female with a family history of lung disease, presenting with progressive respiratory symptoms for 5 years. She had clinical and radiological features of pulmonary alveolar microlithiasis and responded poorly to medical treatment, subsequently admitted with severe respiratory insufficiency, pulmonary hypertensionand right heart failure. She died after repeated attempts at resuscitation. Her autopsy revealed atherosclerotic pulmonary arteries with intra alveolar deposits of concentrically laminated calcific bodies which confirmed the diagnosis of pulmonary alveolar microlithiasis. The disease evolved in a progressive protracted course with respiratory insufficiency which led to corpulmonale. DOI: http://dx.doi.org/10.4038/jccp.v44i1-2.7691 Journal of the Ceylon College of Physicians, 2013, 44, 40-41

The Importance of Bone Scintigraphy in the Diagnosis of Pulmonary Alveolar Microlithiasis

The Importance of Bone Scintigraphy in the Diagnosis of Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis

Introduction: Pulmonary alveolar microlithiasis is an important cause of diffuse parenchymal lung disease and is characterised by calculospherites in the alveolar spaces. Usually occurring in the 4th to 6th decade. Sex distribution is roughly equal. Clinical course is progressive and fatal. About 300 cases of pulmonary alveolar microlithiasis have been reported in literature. Case Report: Here we report a case of a 56­year­old male who presented with progressively increasing breathlessness. Imaging revealed characteristic “sandstorm” appearance on X­ray. A transbronchial lung biopsy confirmed the diagnosis of pulmonary alveolar microlithiasis. Conclusion: The etiology of pulmonary alveolar microlithiasis is unknown and there is no definite medical treatment. Hence, therapy is mostly empirical.

Bilateral Micronodular Pulmonary Infiltrate: Is It Important to Make a Histological Diagnosis?

Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of calcium phosphate within the alveoli. We report the case of a 20-year-old man with a 6-week history of cough and shortness of breath on exertion. The chest radiograph demonstrated a bilateral symmetrical micronodular pattern. High-resolution computed tomography revealed bilateral diffuse fine nodular shadowing involving the mid zones, with sparing of the apices. The patient underwent a transbronchial lung biopsy, which confirmed the diagnosis of pulmonary alveolar microlithiasis.

SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: Report of four cases and review of literatures

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder characterized by the deposition of calcium phosphate microliths throughout the lungs. Currently the mutation of SLC34A2 gene was considered responsible for PAM. Here we reported the studies on mutation analysis of the SLC34A2 gene in three familial members and one unrelated subject of PAM by DNA direct sequencing. Meanwhile, we also reviewed and analyzed the published studies of the SLC34A2 gene mutation in PAM patients. The three familial patients were siblings of an inbred family whose parents were cousins. All four patients presented recurrent cough and exertional dyspnea. Diagnosis of PAM was made according to the typical manifestation of radiology. One homozygous mutation of the SLC34A2 gene, c.910A>T (p.K304X) was identified. The review of the SLC34A2 gene mutation showed multiple mutation symbols in PAM patients from China, Turkey, and Japan respectively. The present study supports that the clinical features, pathological and radiological characteristics of Chinese PAM patients are similar to those reported in other countries. Our investigation revealed that the c.910A>T mutation in the SCL34A2 gene was responsible for PAM patients in China. The review of literatures suggests that exon7 and exon8 seemed liable to be affected typical Mongoloid of PAM, and exon8 might be the screen target for Chinese patients.

A case of pulmonary alveolar microlithiasis with Cor Pulmonale.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the formation and deposition of microliths within the alveoli and a paucity of symptoms in contrast to the imaging findings. It has familial tendency and is thought to be an autosomal recessive disorder with the mutation in the SLC34A2 gene. We describe a case of PAM with Cor Pulmonale. Ultrasonic cardiogram showed pulmonary hypertension (82 mmHg). Chest radiography revealed diffuse, bilateral sandstorm-like micronodules with greater density in the lower lung fields. HRCT scans demonstrated diffuse ground-grass opacities, thickening and calcification of interlobular septa and confluent calcified nodules. A diagnosis of PAM was suggested and confirmed by transbronchial lung biopsy (TBLB).

Pulmonary alveolar microlithiasis: a case report and review of the literature

A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. The clinically suspected diagnosis of pulmonary alveolar microlithiasis (PAM) supported by pathognomonic radiological abnormalities was confirmed by genetic analysis. The clinical presentation of PAM is illustrated by a case and review of the current literature on this subject: you only see what you know.

Pulmonary Alveolar Microlithiasis with Homozygous c.316g>C (p.G106R) Mutation: A Case Report

Pulmonary alveolar microlithiasis is characterized by the presence of calcospherites in alveolar spaces. Sporadic cases are more common, but the disease also presents in an inherited familial form. The greatest number of reported cases is from Europe and especially Turkey. We present a 43-year-old female with complaints of dyspnea for many years. She had a suspicious familial history of pulmonary alveolar microlithiasis. The surgical lung biopsy specimen appeared gritty and firm. Histological sections showed diffuse involvement of the lung parenchyma by innumerable tiny calcospherites. Genetic studies showed a homozygous c.316G > C (p.G106R) mutation in exon 4 and confirmed the diagnosis of pulmonary alveolar microlithiasis. The present report aims to contribute to the literature with a pathologically and genetically confirmed new case to add insight into the etiology of this rare disease. This case confirms an autosomal recessive inheritance and does not support the role of non-genetic and other factors in the pathogenesis of pulmonary alveolar microlithiasis.

“Sandstorm” image: bone scintigraphy in pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disorder, usually with familial association, leading to alveolar deposition of calcium phosphate microliths. A 48-year-old female patient was referred to our clinic for bone scintigraphy because of severe osteoporosis (L1-L4 T score was -3, 5 ; serum calcium values and 24 h calciuria in normal range). Bone scintigraphy showed bilateral, intense pulmonary 99m Tc-methylenediphosphonate uptake, which brought up us to clinical suspicious of PAM. Chest radiograph revealed extensive, bilateral micronodular sandlike appearance, predominantly in the lower lung fields. The diagnosis of PAM was confirmed by transbronchial lung biopsy. Although bone scintigraphy finding is sometimes negative in the early stage of PAM, this imaging method could be very useful in the detection of PAM.

Pulmonary alveolar microlithiasis in an 8-month-old infant

Pulmonary alveolar microlithiasis (PAM) in an 8-month-old male infant is reported. He presented initially at 2 months of age with worsening respiratory distress and cyanosis. Chest imaging by X-ray and by CT scan showed widespread reticulo-nodular densities mostly in the mid and lower zones. The diagnosis of PAM was confirmed by an open lung biopsy which showed diffuse alveolar calcium deposits.

Pulmonary Alveolar Microlithiasis Scintigraphic Features

A 35-year-old female patient presented with a history of nonspecific chest pain and cough for one year. Spirometric studies excluded an obstructive ventilatory defect . Lung volume study findings were consistent with a moderate restrictive ventilatory defect with Total Lung capacity of 2.15L (51.6% of predicted). Diffusing capacity for the alveolar volume ventilated was reduced. Plain chest radiograph showed sand-like opacities, diffusely scattered, bilateral, micronodular areas of radioopacity of calcific densities throughout the lungs with the classic “sandstorm” pattern throughout both lungs predominantly in the lower zones (Fig: 1). Figure 1 Figure 1: Plain chest radiograph showing sand-like opacities, diffusely scattered, bilateral, micronodular areas of radioopacity of calcific densities throughout the lungs with the classic “sandstorm” pattern throughout both lungs predominantly in the lower zones. Computerized tomographic scan revealed diffuse bilateral calcified fine nodular pattern with extensive septal thickening (Fig: 2). Pulmonary Alveolar Microlithiasis Scintigraphic Features 2 of 4 Figure 2 Figure 2: Computerized tomographic scan showing diffuse bilateral calcified fine nodular pattern with extensive septal thickening. Figure 3 Figure 3: Tc-99m methylene diphosphonate (MDP) Bone scintigraphy showing intense bilateral uptake of the radiopharmaceutical in the lungs. Bone scintigraphy along with chest radiography and computerized tomography contributed to the diagnosis of Pulmonary Alveolar Microlithiasis in this patient. DISCUSSION Pulmonary alveolar microlithiasis is a rare disease of unknown etiology, characterized by the presence of calcific concretions in the alveolar spaces, intra-alveolar development and deposition of microliths or calcispherytes consisting of calcium phosphate1 The progression of the disease is generally very slow. Study of the calcium metabolism in many reported cases, however, reveals no derangement of serum calcium levels as in this patient who was normocalcemic, though elevated serum calcium and renal stones have been recorded in some cases.2, 3 Pulmonary function studies demonstrate a tendency toward a restrictive pattern. Chest roentgenography, high-resolution computed tomographic, and technetium-99m lung scan are useful in the diagnosis. Bone scintigraphy can be useful in the detection of early pulmonary calcifications, which have been associated with impaired pulmonary function and, due to their size, are generally not detected by X-ray. Bone scintigraphy may add helpful information in the case of nonspecific CT findings. Bone scan usually shows intense bilateral uptake of the radiopharmaceutical in the lungs.4 Differential diagnosis of diffuse lung uptake in bone scans includes patients with hyperparathyroidism, Hodgkins lymphoma, Sarcoidosis, Wegener's vasculitis, Primary amyloid, renal failure and Pneumocystis carinii.5 CORRESPONDENCE TO Dr Regi Oommen MD, Professor and Head, Department of Nuclear Medicine, Christian Medical College, Vellore - 632004, India. Email ID: regi@cmcvellore.ac.in Fax: 0091-416-2232103

A variant of pulmonary alveolar microlithiasis in nackt mice.

Four adult mutant nackt mice, which demonstrate alopecia and CD4+ T-cell deficiency, and two outbred SENCAR mice (sentinels) were presented for routine health surveillance. Lesions were not observed at necropsy. Microscopically, all four nackt mice demonstrated multiple concretions that were 30-100 microm in diameter, irregularly rounded to oval, nonbirefringent, and amphophilic to basophilic. Many of the concretions appeared attached to or within the alveolar walls of all lung lobes. Approximately half of the concretions had irregular fracture lines. All concretions were periodic acid-Schiff positive, and Von Kassa staining revealed diffuse calcification. None of the concretions were associated with inflammatory cell infiltrates, and metaplastic ossification was not evident. A diagnosis of pulmonary alveolar microlithiasis, a rare disease in both humans and animals, was made based on the size and location of the concretions and the lack of an inflammatory response. This is the first report of a laboratory mouse demonstrating pulmonary alveolar microlithiasis.

Pulmonary microlithiasis. Report of two cases.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by widespread localization of calcispherites in the alveolar spaces. The patients are symptomless for a long time. Nevertheless, this disease slowly develops into pulmonary fibrosis and cardiac failure. The chest X-rays and high-resolution computed tomography strongly point towards a diagnosis of PAM. As for therapeutic approaches, repeated broncho-alveolar lavages (BAL) have been performed with improvement of symptoms but without recovery, and a new oral drug treatment is still under way. We report 2 familial cases of PAM. Both patients underwent chest X-ray examination showing diffuse bilateral micronodular opacities of calcific density. After 5 years, in May 1993, one of them developed exertional dyspnoea, cyanosis, dry cough and was admitted to our Division. Cardiokinetic and diuretic drugs as well as oxygen were administered with satisfactory results. Then repeated BAL were performed. The chest X-ray after 6 months of sodium etidronate (300 mg t.i.d.) administration was unchanged.

Pulmonary Alveolar Microlithiasis

We present five cases with confirmed diagnosis of pulmonary alveolar microlithiasis that illustrate the appearance of this rare chronic lung disease on conventional and high-resolution CT. Pulmonary alveolar microlithiasis is characterized by widespread intraalveolar calcification of both lungs. Conventional CT confirmed the inferior and posterior predominance of the lesions in four of our cases and showed an exceptionally high concentration of microliths in the subpleural parenchyma and along the bronchovascular bundles. High-resolution CT revealed a perilobular and bronchovascular distribution of the disease process at the level of the secondary pulmonary lobule. This pattern correlated closely with pathologic findings.