Respirology Case Reports最新文献

Interstitial lung disease presents significant challenges in managing early-stage non-small cell lung cancer due to the high risk of acute exacerbation with standard therapies. We report the case of an 82-year-old man with idiopathic pulmonary fibrosis and central airway squamous cell carcinoma who was treated with transbronchial cryoablation. The procedure was completed without major complications, and no tumour recurrence was observed over an 11-month follow-up. This case highlights the potential of transbronchial cryoablation as a feasible local treatment option for early-stage non-small cell lung cancer in patients with idiopathic pulmonary fibrosis, offering a safer alternative to surgery or radiation therapy.

Mucous gland adenoma (MGA) is a rare, benign lung tumour. Recently, NKX3.1 immunohistochemistry was reported to be a diagnostic marker for distinguishing MGA from other mucinous tumours. A 60-year-old male with a 20-year history of a tumor-like lesion, primarily composed of mucus in the left lingual region. While the lesion was being monitored, its size gradually increased. We then performed a segmentectomy of the lingula. Postoperative pathological examination showed that the tumour had a tubulopapillary structure. The tumour cells were columnar with slight atypia, diffusely positive for NKX3.1 and were diagnosed as MGA. No recurrence was found after 6 months of postoperative follow-up, and the sputum count had markedly decreased. This case report aids in elucidating the pathogenesis of MGA and NKX3.1-positive lung tumours.

A 50-year-old woman with pneumococcal pneumonia developed cavitary lung lesions despite antibiotic therapy, leading to a diagnosis of necrotizing pneumonia. Necrotizing pneumonia occurs in about 6.6% of adult pneumococcal pneumonia cases and is often underrecognized. Contrast-enhanced CT is crucial for accurate diagnosis when respiratory status or imaging findings worsen.

Laryngo-onycho-cutaneous syndrome (LOCS), or Shabbir's syndrome, linked to mutations in the LAMA3 gene, is predominantly observed in children from Punjabi families. We present the case of a 2.5-year-old male who was initially misdiagnosed with asthma due to progressive hoarseness and stridor. Further evaluation revealed biphasic stridor, paronychia, conjunctival inflammation, nail dystrophy and widespread mucocutaneous lesions. Laryngoscopy showed glottic granulation tissue and subglottic stenosis. While genetic testing was unavailable due to resource limitations, histopathological findings supported a clinical diagnosis of LOCS. Through this case report, we aim to highlight the importance of considering LOCS diagnosis in children with atypical respiratory symptoms complemented by mucocutaneous findings, especially in atopy-prone populations. Early diagnosis is critical to prevent complications like airway obstruction. Management remains supportive, involving surgical and ophthalmologic interventions.

Mature teratomas are typically benign germ cell tumours (GCT), but in rare cases, they can undergo malignant transformation. Malignant transformation of a mediastinal teratoma into adenocarcinoma is extremely rare and often poses diagnostic and therapeutic challenges. A 38-year-old male with a 14-year history of a mature mediastinal teratoma, developed a mediastinal adenocarcinoma. The patient initially underwent surgical resection of the teratoma, with no evidence of malignancy at that time. Over the years, the patient remained asymptomatic until the recent onset of cough, prompting further investigation. Imaging studies revealed a recurrent mediastinal mass, and subsequent biopsy confirmed adenocarcinoma arising from the previously diagnosed teratoma. The patient underwent debulking thoracotomy and chemotherapy. This case highlights the importance of long-term follow-up in patients with mediastinal teratomas, given the rare but significant risk of malignant transformation. Awareness of this possibility can facilitate early diagnosis and timely intervention, ultimately improving patient outcomes.

Asthma-COPD overlap (ACO) carries greater symptom burden, frequent exacerbations and impaired quality of life compared with asthma or COPD alone. Evidence-based advanced therapies are lacking, and management is typically extrapolated from existing guidelines. Tezepelumab, an anti-thymic stromal lymphopoietin antibody, reduces exacerbations and improves lung function in severe asthma. Bronchoscopic lung volume reduction (BLVR) with endobronchial valves benefits selected patients with advanced emphysema and hyperinflation despite optimal therapy. A 71-year-old woman with severe ACO, frequent exacerbations and hyperinflation despite triple inhaled therapy was treated sequentially with tezepelumab and BLVR. Tezepelumab improved airway control and reduced exacerbations; BLVR subsequently addressed persistent hyperinflation. Over 2 years, the patient achieved sustained improvements in lung function, St. George's Respiratory Questionnaire score and annual exacerbation rate. This case highlights the potential benefit of a combined anti-inflammatory and interventional approach in difficult-to-treat ACO, a population for whom evidence-based advanced therapies remain limited.

Tepotinib, a mesenchymal epithelial transition factor (MET) tyrosine kinase inhibitor, is used to treat non-small cell lung cancer with MET exon 14 skipping mutations. Although hepatotoxicity has been reported, drug-induced cholangitis has not been reported before. Here, we report a case of tepotinib-induced cholangitis in a 77-year-old woman with preexisting primary biliary cholangitis. During tepotinib treatment, the patient experienced abdominal pain along with elevated hepatobiliary enzyme levels. Imaging and histological examinations revealed findings similar to sclerosing cholangitis. The liver enzyme levels decreased after drug discontinuation. This case highlights the need for careful monitoring of hepatobiliary function when prescribing MET inhibitors, particularly in patients with underlying liver disease.

Ground-glass nodules (GGNs) pose a considerable diagnostic challenge. Recently, a balloon catheter to dilate peripheral bronchi has become commercially available, offering a potential solution to this limitation. This is a case of a 73-year-old female nonsmoker with rheumatoid arthritis on Tacrolimus. Chest CT scan showed a 13.9-mm pure GGN at the right upper lobe. Annual chest CT scan noted stability in size for 7 years, but recently the size increased to 17.0 mm with a positive bronchus sign in the 12th generation. An ultrathin bronchoscope could be inserted up to the 9th generation. Balloon dilatation was done at this point to pass the subsequent tortuous bifurcation, advancing the bronchoscope further up to the 10th generation. Where radial endobronchial ultrasound showed a blizzard sign, cryobiopsy was performed, revealing lung adenocarcinoma. This case highlights the value of balloon dilatation and cryobiopsy for ultra-peripheral GGNs.

Tuberculous coxitis is a rare form of extrapulmonary tuberculosis in children, often misdiagnosed due to its subtle presentation and resemblance to other joint disorders. We report the case of a 12-year-old boy with a seven-month history of progressive right hip pain, joint deformity, and a draining sinus, initially mismanaged as a nonspecific infection. Imaging revealed destructive changes in the right hip, and molecular testing confirmed Mycobacterium tuberculosis from both gastric aspirate and intra-articular pus. The patient underwent anti-tuberculosis therapy and surgical debridement with internal fixation. Histopathology confirmed tuberculous arthritis. Significant clinical improvement was observed postoperatively, with restoration of mobility. This case underscores the importance of early suspicion of skeletal TB in chronic monoarthritis, especially in endemic regions. Delayed diagnosis may lead to joint destruction and disability, but multidisciplinary management and timely intervention can yield favorable outcomes.

Pulmonary epithelioid hemangioendothelioma (PEH) is a rare, low- to intermediate-grade malignant vascular tumour. We present a 63-year-old woman with incidentally identified bilateral pulmonary nodules, which demonstrated indolent features on PET-CT (SUVmax 1.8). She returned 4 years later with progressive dyspnoea, a pleural effusion, and radiologic evidence of disease progression. Histopathological examination of a biopsy specimen confirmed PEH, with tumour cells showing positivity for CD31 and a Ki-67 proliferation index of 20%. Despite treatment with a gemcitabine and carboplatin regimen, she developed pleural metastases and succumbed to her disease within a year of diagnosis. This case underscores the potential for aggressive progression in PEH, the prognostic value of the Ki-67 index and the critical need for early histopathological confirmation and more effective therapies.