CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

Genetic analysis pre-lung transplantation diagnosed a case of hereditary pulmonary alveolar proteinosis (PAP) complicated by fibrosis in adulthood. The need for genetic testing in GM-CSF autoantibody negative and unclassifiable PAP is highlighted. https://bit.ly/3QcsYwM.

Intrahepatic Gallbladder Rupture and Biloma Mimicking Pulmonary Embolism Following Orthopedic Surgery.

In this case report, a 75-year-old male with a history of coronary artery disease, type 2 diabetes, hypertension, and benign prostate hypertrophy developed postoperative fever and chest pain following left knee arthroplasty. Upon admission to the emergency department, pulmonary embolism was considered highly probable, and the patient was treated with anticoagulation and antibiotics due to diagnostic uncertainty. However, further investigations revealed a complex condition involving an intraparenchymal gallbladder rupture resulting in a biloma secondary to choledocholithiasis. The patient's history of receiving spinal anesthesia with intrathecal morphine was identified as a potential causative factor to the sphincter of Oddi constriction, leading to increased biliary pressure and gallbladder rupture. This case highlights the importance of having a broad differential diagnosis in postoperative patients, especially when the clinical presentation is atypical. With the diagnosis being confirmed, the patient underwent successful treatment, including biliary stenting, drainage of the biloma, and ultimately cholecystectomy. This case underlines the need for vigilance and a multidisciplinary approach in managing complex postoperative complications, emphasizing that clinical presentations may sometimes deviate significantly from the expected, requiring further investigation and individualized treatment.

Neck mass and bilateral pleural effusions in a 53-year-old female.

Chylothorax indicates the accumulation of chyle in the pleural cavity. It is a rare cause of pleural effusion, especially bilaterally. In clinical practice, the presence of milky fluid in the pleural cavity raises the suspicion of chylothorax. The most common cause is trauma, iatrogenic or non, owing to thoracic duct injury, which transports chyle from the lymphatic system into the bloodstream. The case we describe is of a 53-year-old female who was referred to our hospital with bilateral pleural effusions and a left supraclavicular mass. From the diagnostic studies, the nontraumatic causes of chylothorax were excluded. The potential diagnosis was traumatic chylothorax, a diagnosis of exclusion, as it appeared after muscle stretch and receded with a fat-free diet and repose without any relapse.

Anti-Ro52/Anti-nuclear Matrix Protein 2 Positive Clinically Amyopathic Dermatomyositis Presented Only With Interstitial Lung Disease.

This report contemplates a unique case of clinically amyopathic dermatomyositis (CADM) that presented as interstitial lung disease. The patient was a 55-year-old woman who showed up with progressive exercise intolerance and a dry cough without muscular or dermatological clinical manifestations. Diagnostic workup and imaging revealed the presence of interstitial lung disease, and further evaluation led to a positive autoimmune panel for anti-nuclear matrix protein 2 (anti-NXP2) and anti-Ro52 antibodies, establishing the diagnosis of anti-NXP2 plus anti-Ro52 antibodies-positive amyopathic idiopathic inflammatory dermatomyositis. The patient was started on intravenous corticosteroids. She showed improvement on her chest X-ray (CXR) and was then switched to oral corticosteroids. After six months of steroid treatment, corticosteroids were stopped, and the patient was re-evaluated one month later disease relapse.

A Unique Case of Conservatively Treated Actinomyces Empyema Complicated Due to Drug Reaction With Eosinophilia and Systemic Symptoms Syndrome.

This case contemplates the unusual presentation, challenging diagnostic workup and conservative therapeutic process of a patient with Actinomyces empyema complicated along the way due to drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. The patient was a 40-year-old male, who presented with pleurodynia and fever. Laboratory exams showed elevated inflammatory markers and imaging revealed two biconvex fluid pockets located in the right lower lobe, from which the fluid was positive for Actinomyces meyeri. The initial conservative process with intravenous antibiotics and successful drainage with intrapleural fibrinolysis improved our patient. However, after a few days, the patient's fevers relapsed, and as regress of the empyema was discussed as a complication, he developed a maculopapular symmetrical rash of the trunk and legs accompanied by enlarged lymph nodes, eosinophilia, thrombocytopenia, and atypical lymphocytes. The diagnosis of DRESS syndrome due to antibiotic therapy for actinomyces empyema was established and a balance between bactericidal and immunosuppression medication had to be found. Fortunately, the patient withstood prolonged antibiotic therapy and got fully treated without any relapses.

Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion.

This case describes the first patient with familial Mediterranean fever (FMF) with massive left pleural effusion as the first clinical manifestation, to whom a video-assisted thoracoscopic surgery was performed to support the diagnosis. The patient was a 28-year-old male, who presented with dry cough and dyspnea but no fever. The lab findings showed hypoxemia (partial pressure of oxygen = 65 mm Hg) accompanied by elevated inflammatory markers, including C-reactive protein at 7 mg/dl (<0.5 mg/dl), erythrocyte sedimentation rate of 46 mm/h (<20 mm/h), and serum amyloid at 56.7 mg/L (<10 mg/L). X-ray indicated the left pleural effusion was part of a bilateral recurrent painless pleuritis, as the right pleural thickening implied. Numerous biopsies were taken during the thoracoscopy, and the histopathology examination reported non-specific fibrous pleurisy. Colchicine administration, at first empirically for upcoming pericarditis, at the end was a significant clue for the diagnosis. Positive molecular testing for mutations in the familial Mediterranean fever (MEFV) gene contributed to the diagnosis of FMF, which was based on the Tel-Hashomer clinical criteria. The purpose of this article is hopefully to raise further awareness about patients with FMF presented with unusual manifestations of the disease.

Clinical relevance of circulating autoantibodies in idiopathic pulmonary fibrosis; A NAt hard to break.

Patients with idiopathic pulmonary fibrosis are screened for circulating autoantibodies as part of the initial interstitial lung disease workup. Management of seropositive idiopathic pulmonary fibrosis is currently considered no different than that of lone idiopathic pulmonary fibrosis. Emerging data however suggest that the former may possess distinct characteristics in terms of pathophysiology, histopathology, prognosis and amenability to immunomodulation. In that context, the aim of our study was to evaluate the influence of autoantibody status on: (i) the decline of forced vital capacity; (ii) the decline of diffusing capacity of lung for carbon monoxide; and (iii) 3-year survival; in a cohort of 102 idiopathic pulmonary fibrosis patients. In a pilot sub-study, we also sought to evaluate whether changes in antibody status during disease course affect the aforementioned parameters by potentially reflecting activity of the autoimmunity component of the pro-fibrotic mechanism.

Recurrent Pleuritic Chest Pain, Lobar Consolidation, and Pleural Effusion in a 50-Year-Old Woman.

CASE PRESENTATION: A 50-year-old woman with a history of permanent atrial fibrillation (AF) treated with radiofrequency catheter ablation (RFCA) 6 months ago was admitted to the respiratory department of a tertiary hospital because of recurrent episodes of pleuritic chest pain in the preceding 5 months. The patient reported multiple visits to a regional hospital, where she was treated with broad-spectrum antibiotics after discovery of a left alveolar consolidation on chest radiograph (Fig 1), subsequently imaged with CT scan (Fig 2). On treatment failure and appearance of a left-sided pleural effusion during outpatient follow-up, the patient was re-admitted. Pleural fluid was obtained via thoracocentesis characterized by exudative features and lymphocytic predominance. Abdomen CT scan, with IV and per os contrast agent, was devoid of findings consistent with malignancy, and serum autoantibody levels were below positivity cut off values (antinuclear, cyclic citrullinated peptide antibody, rheumatoid factor, and anti-neutrophil cytoplasmic antibodies). The patient underwent flexible bronchoscopy without endobronchial pathology on visual inspection. Microbiologic studies and cytological examination of samples obtained by bronchial washing/aspiration yielded no clinically relevant information. Lung perfusion/ventilation scintigraphy was ordered to exclude chronic thromboembolic pulmonary hypertension; however, a deficit in vascularization for the left inferior lobe was found, prompting further investigation (Fig 3). Progression of left inferior lobe consolidation and the presence of a small pericardial effusion became evident on reimaging after a 2-month interval. The patient was empirically started on corticosteroids. After emergence of left hilar lymphadenopathy (< 1 cm), a PET-CT scan was performed. The left lower inferior lobe consolidation, whose metabolic activity pattern was consistent with that of inflammation (standardized uptake value equal to 4.4) (Fig 4), as well as the left sided-pleural effusion were markedly improved compared with previous imaging 20 days after corticosteroid initiation (Fig 2). On the grounds of recalcitrant pleuritic pain and pleural effusion recurrence during corticosteroid tapering, the patient was referred to the respiratory department of our university hospital to have her condition diagnosed.

Bilateral Deep Vein Thrombosis and Pulmonary Embolism Due to Right Common Iliac Artery Aneurysm with a Contained Rupture.

Venous thromboembolism (comprising deep venous thrombosis and/or pulmonary embolism) is a common disease, often of multifactorial cause. Focal iliac artery aneurysms are relatively rare, and only a few reports exist in the literature describing patients with venous thromboembolism resulting from venous floe disruption due to iliac artery aneurysm. Thus, we report a case of a 65-year-old male presenting with pulmonary embolism and bilateral deep vein thrombosis associated with a contained rupture of the right common iliac artery aneurysm.

Chronic Progressive Dyspnea in a 71-Year-Old Man: A Diagnostic Ithaca After 8 Years of Consultation.

CASE PRESENTATION: A 71-year-old ex-bus driver (ex-smoker, 20 pack-years) was admitted for the first time to the respiratory department because of chronic dry cough and progressive exertional dyspnea with insidious onset 8 years ago. The patient also reported weight loss of about 20 kg in 3 years and proximal muscle weakness. A decade ago, he was diagnosed with gastric adenocarcinoma and subjected to partial gastrectomy and splenectomy, followed by an unspecified chemotherapy regimen. Additionally, the patient has coronary disease and underwent coronary bypass graft surgery 7 years ago. In the course of his disease, many diagnostic procedures have been performed including Mantoux tests, five CT scans, a CT-guided biopsy, two bronchoscopies, and an 18F-fluorodeoxyglucose PET scan with inconclusive results. The patient was referred to the hospital to have his long-lasting condition diagnosed and treated.