Inflammatory myofibroblastic tumors (IMTs) are rare mesenchymal neoplasms with intermediate malignant potential. While most commonly arising in the lung, airway involvement is exceedingly uncommon. Endobronchial IMTs typically manifest with symptoms of airway obstruction, including dyspnea, wheezing, and stridor. Diagnosis involves radiological imaging, bronchoscopic evaluation, and histopathological analysis. Additionally, assessment of anaplastic lymphoma kinase (ALK) status is particularly important in young and pediatric patients, as ALK-targeted therapies constitute a viable treatment option for tumors harboring ALK rearrangements or other actionable kinase fusions. Complete surgical resection remains the gold standard for treatment; however, bronchoscopic resection may be an effective option in selected cases. Herein, we describe two cases of IMTs involving the airways-one in an adult and one in a child-both presenting with significant airway obstruction and managed with bronchoscopic resection.
Introduction:Lymphangioleiomyomatosis (LAM) is a rare, progressive, multisystem disease primarily affecting women of reproductive age. It is characterized by the abnormal proliferation of smooth muscle-like LAM cells that infiltrate the lungs, lymphatics, and kidneys. This case highlights that the clinical value lies not in isolated features, but in the convergence of early gestational presentation, severe bilateral disease, diagnostic limitations, and the need for coordinated multidisciplinary decision-making in a resource-constrained setting. Case Presentation:A 23-year-old pregnant woman (G3P2L1A1) at 17 weeks of gestation presented with severe shortness of breath and bilateral shoulder pain, escalating to respiratory distress (SpO2 80%) and functional class IV within hours. Imaging revealed bilateral pneumothorax, near-complete lung collapse, and multiple small cysts in the lung parenchyma, suggestive of LAM. Chest tube placement and pulmonary consultations were performed, followed by a control CT scan confirming LAM. Because of the risk of worsening LAM during pregnancy, termination of the pregnancy was carried out, and diagnostic confirmation was achieved through video-assisted thoracoscopic surgery (VATS) with lung biopsy, showing cystic and adhesive lesions. Treatment included decortication, lesion removal, and sirolimus therapy, an mTOR inhibitor. The patient was discharged in stable condition with ongoing medical follow-up. Conclusion:Management of LAM during pregnancy requires a multidisciplinary approach, emphasizing personalized care to balance maternal and fetal health. This case highlights the need for vigilance and adaptability in the care of pregnant women with rare pulmonary disorders like LAM. Early diagnosis is key to slowing the progressive decline of pulmonary function. Further research is needed to improve treatment options for LAM patients.
Solitary fibrous tumors of the pleura (SFTPs) are rare mesenchymal neoplasms that typically originate from the visceral pleura. We report two cases of giant pleural SFTs involving the left hemithorax. The first case involved a 59-year-old woman presenting with two synchronous tumors, whereas the second case concerned a 39-year-old man with a single large intrathoracic mass. The coexistence of two distinct SFTs within the same hemithorax, as observed in the first patient, is exceptionally rare and may suggest a multicentric pleural origin or intrapleural dissemination. Both patients presented with progressive respiratory symptoms and mediastinal shift on chest computed tomography. Histopathological diagnosis was confirmed by percutaneous biopsy and immunohistochemical positivity for CD34, CD99, and BCL2. Complete tumor resection was achieved through posterolateral thoracotomy in both cases. One patient developed early postoperative recurrence during follow-up. These cases highlight the clinical heterogeneity of pleural SFTs and emphasize the diagnostic and surgical challenges posed by giant intrathoracic tumors. Accurate histopathological confirmation and complete surgical resection remain essential for optimal management, whereas long-term surveillance is warranted due to the potential risk of recurrence.
Congenital diaphragmatic eventration (CDE) is a rare developmental anomaly characterized by abnormal elevation of an intact hemidiaphragm due to deficient muscular development. Although often asymptomatic in adults, it may present with respiratory or gastrointestinal complaints. We report a 65-year-old man with congenital left hemidiaphragmatic eventration associated with gastric displacement and colonic interposition. He initially presented with chest pain and was found to have cardiac dextroposition. Multimodality imaging, including fluoroscopy, demonstrated a transient rightward cardiac displacement that became more apparent after postprandial gastric distention and regressed as gastric decompression occurred. This dynamic finding suggests that gastrointestinal distention and associated mass effect can exacerbate mediastinal displacement in patients with CDE. This case highlights the importance of considering congenital diaphragmatic anomalies in adults with atypical chest symptoms and emphasizes the value of dynamic imaging in clarifying reversible cardiac displacement.
Undiagnosed and retained aspirated foreign bodies are a well-recognized cause of pulmonary morbidity, yet diagnosis of this clinical entity is often delayed, particularly when the foreign body is radiolucent, or the history of aspiration cannot be recalled. We report the longest documented case of a retained airway foreign body to date: a 59-year-old woman who aspirated a plastic Barbie doll house cup at age 8, 51 years prior. She experienced recurrent right lower lobe (RLL) pneumonias, and CT imaging eventually revealed chronic RLL collapse and bronchial obstruction. Flexible bronchoscopy confirmed and enabled successful removal of the foreign body. This case underscores the importance of maintaining clinical suspicion for foreign body aspiration in adults with persistent or recurrent respiratory symptoms, even when the initial aspiration event occurred many years prior. It also highlights the diagnostic challenges associated with radiolucent foreign bodies and the potential for long-term pulmonary complications when diagnosis is delayed.
Background:Autoimmune pulmonary alveolar proteinosis (APAP) is caused by impaired surfactant clearance due to neutralizing autoantibodies against granulocyte-macrophage colony-stimulating factor. Although whole-lung lavage and inhaled granulocyte-macrophage colony-stimulating factor therapy are established treatment options, pulmonary fibrosis is increasingly recognized as a clinically relevant complication in a subset of patients with APAP. However, the clinical behavior of APAP-associated fibrosing lung disease and the role of antifibrotic therapy remain unclear. Case Presentation:A 54-year-old man with a 15-year history of APAP was referred to our institution. High-resolution computed tomography images obtained before referral showed slow progression of reticulation and traction bronchiectasis, suggesting fibrotic progression rather than recurrence of APAP. At presentation, forced vital capacity (FVC) was 3.31 L (80.0% predicted), and diffusion capacity for carbon monoxide (DLCO) was preserved. During 6 months of observation, FVC declined to 3.03 L (73.5% predicted), accompanied by worsening dry cough and exertional dyspnea. Nintedanib was initiated for a progressive fibrosing phenotype in the context of APAP. Thereafter, FVC remained relatively stable for 2 years, whereas DLCO declined during follow-up. Conclusions:APAP-associated fibrosing lung disease may present with a progressive fibrosing phenotype, but its diagnosis and management remain challenging. This case highlights the importance of distinguishing fibrotic progression from recurrence of intra-alveolar proteinosis.
Acute hypoxemic respiratory failure in toddlers is most commonly associated with severe pneumonia, bronchiolitis, or foreign body aspiration. Complete obstruction of a main bronchus by mucus plugs is an uncommon but potentially life-threatening cause of unilateral lung collapse and severe hypoxemia. We report the case of a previously healthy 17-month-old boy who presented with severe respiratory distress after 3 days of fever and cough. Physical examination revealed marked respiratory distress with absent breath sounds over the left hemithorax. Chest radiography and computed tomography demonstrated complete left lung collapse without evidence of pleural effusion or foreign body. Due to rapidly worsening hypoxemia and suspected central airway obstruction, emergency flexible bronchoscopy was performed under general anesthesia via endotracheal intubation. Complete occlusion of the left main bronchus by thick mucus plugs was identified and successfully removed using suction and bronchoscopic forceps, resulting in immediate improvement in oxygenation and rapid radiologic lung re-expansion. The patient recovered fully and was discharged in 5 days without complications. This case highlights the importance of considering mucus plug-induced bronchial obstruction in toddlers presenting with sudden unilateral lung collapse and severe hypoxemia, particularly when foreign body aspiration remains a differential diagnosis. Early bronchoscopic intervention can be lifesaving and may prevent prolonged respiratory failure and associated complications.
Aspergillus niger and Aspergillus calidoustus are relatively uncommon pathogens that could cause invasive disease, especially in immunocompromised patients. We present the case of a 61-year-old male with a history of idiopathic pulmonary fibrosis who was admitted to our hospital for a unilateral lung transplant that was performed without complications; despite voriconazole prophylaxis, he developed tracheobronchial aspergillosis, caused by A. niger and A. calidoustus—a species difficult to identify due to its close microbiological and genetic resemblance to other Aspergillus species. Molecular diagnostic methodologies are indispensable for the precise identification of cryptic Aspergillus species, a necessity emphatically demonstrated by this specific clinical presentation. The reliance upon these tools, in contrast to conventional phenotyping, is crucial for guiding appropriate and potentially life-saving antifungal therapeutic interventions in critical scenarios like lung transplantation.
Objective:Idiopathic pulmonary hemosiderosis (IPH) is a rare pediatric disorder characterized by recurrent alveolar hemorrhage leading to iron-deficiency anemia and diffuse pulmonary infiltrates. Its diagnosis is frequently delayed because early manifestations often mimic common respiratory or hematologic conditions. High-dose corticosteroids remain the mainstay of acute management, yet prolonged steroid dependence is associated with significant sequelae. Emerging evidence suggests that B cell-directed therapy, including rituximab, may offer a steroid-sparing alternative in refractory pediatric IPH. Clinical Presentation and Intervention:We describe an uncommon case of steroid-dependent IPH. Her clinical course was marked by recurrent hypoxemic episodes, diffuse alveolar bleeding, and severe anemia, leading to multiple admissions to intensive care and repeated transfusion requirements. Although she received prolonged therapy with corticosteroids, hydroxychloroquine, and azathioprine, she consistently relapsed whenever steroid doses were reduced. Rituximab was introduced as a steroid-sparing strategy, after which she demonstrated significant clinical improvement and durable remission. Conclusion:This case illustrates the diagnostic challenges of pediatric IPH when early features are incomplete and underscores the potential value of Rituximab as a steroid-sparing option in refractory disease. The patient's sustained remission following B cell-directed therapy supports its emerging role in IPH, though larger, well-designed studies are needed to better define its long-term safety and optimal use in children.
ROS1 rearrangements are driver events in a subset of nonsmall cell lung carcinomas and may qualify patients for ROS1-directed treatment. ROS1 immunohistochemistry (IHC) is often used for screening of lung carcinomas for ROS1 gene rearrangement and has a cytoplasmic and/or membranous staining pattern. Here, we report an unusual case of a lung adenocarcinoma displaying a strong nuclear staining pattern on ROS1 IHC. ROS1 fluorescence in situ hybridization (FISH) reflex testing was ordered. ROS1 FISH testing showed an isolated 3 ' signal pattern, indicating a potential rearrangement or deletion in the ROS1 gene. Next-generation sequencing (NGS) analysis revealed a NMP1::ROS1 rearrangement. The tumor was from a 74-year-old male with a previous history of lung squamous cell carcinoma. This new occurrence was determined to be a lung adenocarcinoma and displayed papillary features, whereas concurrent lymphadenopathy was also present. Immunostaining for ALK was negative, and there was no expression of PD-L1 22C3 IHC. This case report highlights an unexpected ROS1 IHC staining associated with a rare ROS1 gene rearrangement.
Background:Endobronchial fibroma is a rare benign tumour that can mimic lung cancer, especially when accompanied by airway obstruction and hilar-mediastinal lymphadenopathy. Case Presentation:A 73-year-old man under radiological surveillance for pulmonary nodules developed interval growth of a middle-lobe nodule with new hilar-mediastinal lymphadenopathy and an obstructing B4 endobronchial mass. Bronchoscopy revealed a smooth, firm, rubbery polypoid lesion. Tissue sampling included fine-needle aspiration of the endobronchial mass and EBUS-TBNA of nodal stations (7, 11Ri and 11 L). Histology showed fibromatous tissue without atypia; lymph nodes exhibited inflammatory changes. The lesion was fully removed via rigid bronchoscopy with forceps and laser, leading to symptom relief and planned radiological follow-up. We propose a stepwise evaluation pathway for endobronchial tumours when lymphadenopathy is present, highlight pathology features that distinguish fibroma from malignant and benign mimickers and outline practical considerations for bronchoscopic resection. Conclusion:In patients with concurrent endobronchial mass and lymphadenopathy, a targeted approach using EBUS-TBNA can exclude nodal metastasis and support definitive, minimally invasive treatment, potentially avoiding unnecessary surgery.
Neuroblastoma is the most common extracranial solid malignancy of childhood, typically arising from the adrenal medulla or paraspinal sympathetic chain. Although intrathoracic neuroblastoma is uncommon, involvement of the lower thoracic sympathetic chain is particularly rare, with most reported thoracic tumors arising in the upper posterior mediastinum rather than the lower paraspinal region. We report a 10-month-old boy diagnosed with intrathoracic neuroblastoma originating from the paraspinal region at the T12 level, which posed diagnostic challenges due to its rarity and nonspecific presentation. This case highlights the importance of including neuroblastoma in the differential diagnosis of intrathoracic masses in infants.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that often presents with nonspecific pulmonary manifestations, frequently mimicking severe pneumonia or acute respiratory distress syndrome (ARDS). We report a case of malignancy-associated HLH secondary to nodal T follicular helper (TFH) cell lymphoma presenting as nonresolving pneumonia with progressive hypoxemic respiratory failure. Bronchoalveolar lavage (BAL) flow cytometry demonstrated an aberrant CD4-predominant T-cell population (CD4:CD8 ratio 9.2:1) with loss of pan-T cell antigens CD5 and CD7, providing early evidence of pulmonary lymphoma involvement and prompting expedited hematological evaluation. Critically, bone marrow flow cytometry was nondiagnostic despite histological involvement, highlighting BAL as the higher yield diagnostic site. This case argues for routine BAL immunophenotyping in critically ill patients with nonresolving pulmonary infiltrates, hyperferritinemia, and cytopenias.
Background:Dupilumab, a monoclonal antibody targeting the interleukin-4 receptor alpha subunit (IL-4Rα), is approved for the treatment of various Th2-mediated conditions such as atopic dermatitis, asthma, and chronic rhinosinusitis with nasal polyposis. While its side effect profile is well-established, its impact on humoral immunity and potential to unmask subclinical immunodeficiencies remains underexplored. Case Presentation:We report a unique case of a 45-year-old woman with severe persistent asthma and chronic sinusitis who developed recurrent MRSA pneumonia and empyema after initiating dupilumab therapy. Initially treated with standard asthma therapies, she was started on dupilumab due to uncontrolled symptoms. One year into therapy, she developed a loculated empyema requiring surgical intervention. A second episode of MRSA empyema occurred 2 years later, necessitating further decortication. Her immunologic workup revealed a progressive decline in serum IgG levels (from 1100 to 851 mg/dL) and poor pneumococcal vaccine antibody responses, suggestive of impaired polysaccharide antibody response and possible specific antibody deficiency. Given the timing of immunologic decline in relation to dupilumab initiation and the known role of IL-4 in B cell maturation and class-switch recombination, we propose that IL-4 blockade may have unmasked a previously subclinical immunoglobulin deficiency. Conclusion:Our case suggests a potential association between dupilumab therapy and unmasking of specific antibody deficiency. IL-4 plays a critical role in B cell survival and immunoglobulin class switching; thus, its inhibition may impair humoral responses in susceptible individuals. Clinicians should maintain a high index of suspicion for immunodeficiency in patients on dupilumab who present with recurrent infections. Further research is warranted to elucidate the immunologic consequences of IL-4 blockade and to identify patients who may be at risk for developing secondary immunodeficiency.
This case report presents a rare case of primary pulmonary marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (PMZL-MALT). Follow-up lung imaging performed 17 months after the initial presentation showed persistent pulmonary consolidation. After a radial probe endobronchial ultrasound (RP-EBUS)-guided transbronchial lung biopsy, histopathological analysis confirmed the diagnosis of primary PMZL-MALT. Notably, while RP-EBUS is commonly used for solitary peripheral pulmonary lesions, its value in asymptomatic, bilateral, nonspecific consolidations-an easily misdiagnosed scenario often leading to unnecessary invasive procedures-remains underrecognized, which this case is aimed at highlighting. Our report is aimed at raising clinical awareness of this disease and promoting early diagnosis and treatment.
Pulmonary cryptococcosis is an opportunistic fungal infection that primarily affects immunocompromised individuals, including solid organ transplant recipients. Its radiologic manifestations are diverse and may closely mimic malignancy or other chronic pulmonary infections, often leading to diagnostic uncertainty. We report a case of disseminated cryptococcosis presenting as a solitary cavitary pulmonary lesion in a kidney transplant recipient receiving chronic immunosuppressive therapy. Imaging findings initially raised concern for malignancy. Cytologic evaluation demonstrated fungal elements favoring Histoplasma, complicating the diagnostic process. However, microbiologic cultures and cryptococcal antigen testing confirmed Cryptococcus neoformans. Cerebrospinal fluid analysis demonstrated central nervous system involvement. The patient was treated with induction antifungal therapy followed by consolidation and maintenance therapy, with clinical and radiographic improvement. This case highlights the diagnostic challenges of pulmonary cryptococcosis and underscores the importance of integrating imaging, pathology, microbiology, and antigen testing to establish the diagnosis in immunocompromised patients.
This case report discusses a middle-aged patient with metastatic pleuro-pulmonary Ewing sarcoma, with the rare initial presentation of spontaneous haemothorax. The patient had a prior history of Ewing sarcoma of the pelvis in young age, which had been treated with chemoradiotherapy with remission. There was a 2-week history of right sided chest pain and shortness of breath, and a chest x-ray showed complete opacification of the right hemithorax, with subsequent CT arising suspicion of a heterogeneous soft tissue pleural lesion with fluid in the pleural cavity. While awaiting further treatment including biopsy, the patient deteriorated rapidly and was eventually started on end-of-life care. Postmortem examination showed large right pleural haemorrhage with lung collapse, and histological examination of pleural lesions confirmed a diagnosis of recurrent Ewing's sarcoma. Extraskeletal presentations of Ewing's sarcoma, particularly with spontaneous haemothorax as the initial presentation have been rarely reported in the literature in adult patients. Diagnosing pleural Ewing's sarcoma requires a multimodal approach, utilising investigations such as contrast-enhanced CT imaging, pleural fluid analysis, thoracoscopy, and PET-CT to evaluate for disease spread. Treating pleural Ewing's sarcoma can be challenging; early diagnosis and management of complications such as haemothorax is essential with thoracocentesis or thoracotomy. Ongoing treatment can include multimodal therapies including chemotherapy and radiotherapy with or without surgery, depending on disease extent.
Pulmonary lymphomatoid granulomatosis (PLG) is a rare Epstein-Barr virus (EBV)-driven B-cell lymphoproliferative disorder characterized by angiocentric and angiodestructive infiltrates. The disease predominantly affects middle-aged immunocompromised males, with a median survival of 14 months and mortality rates of 63%-90% at 5 years. Histopathological evaluation remains the cornerstone of diagnosis, historically requiring surgical lung biopsy for adequate tissue acquisition. We present a novel case of an 82-year-old male with a history of COPD and colon cancer who developed rapidly progressive, predominantly right upper lobe pulmonary nodules. The patient's initial presentation with fever and hypotension led to an inpatient workup for sepsis, where his lung nodules were incidentally noted to have grown. Following referral to pulmonology, a robotic navigation bronchoscopy (ion) with a cryoprobe (Erbe) was performed for tissue diagnosis, initially considering metastatic disease. Pathology from the cryoprobe biopsy yielded a consensus diagnosis of Grade 3 PLG after expert review. This case raises awareness of a rare diagnosis in the differential of progressive pulmonary nodules. It also demonstrates an atypical presentation with the patient's advanced age, the aggressive and unusual distribution of the nodules, and the absence of classic extrapulmonary manifestations. Most importantly, it demonstrates that a novel, less invasive, cryoprobe-assisted bronchoscopic biopsy can be sufficient for a definitive diagnosis of this rare disease, a modality not previously reported for PLG diagnosis, potentially precluding the need for more invasive surgical procedures.
