Respiratory Medicine Case Reports最新文献

{"title":"Fatal immune checkpoint inhibitor-related pneumonitis following postoperative nivolumab administration in a patient with unclassifiable interstitial pneumonia and resected lung squamous cell carcinoma: A case report","authors":"Eitetsu Koh ,&nbsp;Yasuo Sekine ,&nbsp;Kenzo Hiroshima","doi":"10.1016/j.rmcr.2025.102294","DOIUrl":"10.1016/j.rmcr.2025.102294","url":null,"abstract":"<div><h3>Background</h3><div>Immune checkpoint inhibitor-related pneumonitis (ICI-P) is a known but potentially fatal complication in patients with underlying interstitial lung disease (ILD). However, reports of ICI-P in the postoperative setting remain scarce.</div></div><div><h3>Case presentation</h3><div>We present a 67-year-old man with unclassifiable interstitial pneumonia who underwent right upper lobectomy for stage IB squamous cell carcinoma. Two cycles of adjuvant nivolumab were administered. Ten days after the second cycle, the patient developed fever and progressive dyspnea. Chest CT revealed diffuse ground-glass opacities and consolidation in both lungs. Despite initial improvement with high-dose corticosteroids, respiratory failure recurred and progressed rapidly. The patient died 21 days after onset. Pathological review of the resected lung confirmed fibrosis compatible with unclassifiable interstitial pneumonia and squamous cell carcinoma. No autopsy was performed.</div></div><div><h3>Conclusion</h3><div>This case highlights the potentially fatal risk of postoperative nivolumab therapy in patients with pre-existing ILD, even in the setting of unclassifiable interstitial pneumonia. Careful risk–benefit assessment is warranted when considering adjuvant immune checkpoint inhibitors in this population.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102294"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145120731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings","authors":"Juan Luis Rodríguez Hermosa ,&nbsp;Soha Esmaili ,&nbsp;Sofía Ayat Ortiz ,&nbsp;Lucía Gómez Martín-Caro ,&nbsp;Nerea Matamala ,&nbsp;Beatriz Martínez Delgado ,&nbsp;Myriam Calle Rubio","doi":"10.1016/j.rmcr.2025.102285","DOIUrl":"10.1016/j.rmcr.2025.102285","url":null,"abstract":"<div><h3>Background</h3><div>Alpha-1 antitrypsin deficiency (AATD) is a common yet underrecognized genetic condition that predisposes to early-onset emphysema and liver disease. Diagnostic algorithms typically target frequent alleles (S and Z), potentially missing rare variants in patients with discordant phenotypes.</div></div><div><h3>Case presentation</h3><div>We report two biologically related individuals (sisters) referred to our respiratory outpatient clinic after persistently low serum AAT levels despite an initial Pi∗MZ genotype. Longitudinal clinical, functional, and radiological evaluation revealed divergent trajectories: Case 1 remained asymptomatic with stable lung function and normal imaging, while Case 2 developed mild emphysema and progressive airflow obstruction. Serum AAT levels were markedly reduced in both patients (60–61 mg/dL and 57–50 mg/dL, respectively; reference range: 90–200 mg/dL). Given the phenotype–genotype discordance, full-gene sequencing was performed and identified a previously unreported SERPINA1 variant, c.1177C &gt; A (p.Pro393Thr), in trans, combined with the Z allele, in both sisters.</div></div><div><h3>Discussion</h3><div>Codon 393 is functionally relevant, as shown by the known pathogenic Würzburg variant (p.Pro393Ser). The location of the novel variant within beta-sheet C, its trans configuration with Z, the associated biochemical phenotype, and segregation in two related individuals support its likely pathogenicity. We propose the designation PiComplutense for this mutation.</div></div><div><h3>Conclusion</h3><div>These cases highlight the diagnostic value of extended SERPINA1 sequencing in patients with biochemical–genotypic discordance. Although the most frequent deficient alleles are S and Z, we should think about possible rare variants when discordance exists. There is a need to improve early detection, refine risk assessment and support personalised clinical management.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102285"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metagenomic next-generation sequencing assists in diagnosing Pneumocystis Jirovecii pneumonia in non-HIV patients: a case report","authors":"Ying Zhang ,&nbsp;Anbao Chen ,&nbsp;Chunyan Yang ,&nbsp;Li Guan ,&nbsp;Chun Wang","doi":"10.1016/j.rmcr.2025.102289","DOIUrl":"10.1016/j.rmcr.2025.102289","url":null,"abstract":"<div><h3>Background</h3><div><em>Pneumocystis jirovecii</em> Pneumonia (PJP) is a pulmonary opportunistic fungal infection with an incompletely elucidated pathogenesis. In recent years, non-human immunodeficiency virus (HIV) -infected PJP patients have exhibited rapid progression, poor prognosis, and a greater mortality rate compared to their HIV equivalents, necessitating timely detection and management, which are both critical and problematic.</div></div><div><h3>Case report</h3><div>We report a young patient admitted with diabetic ketoacidosis characterized by rapidly progressing acute respiratory failure with negative pathogen blood cultures, serum antibodies and polymerase chain reaction results, and a normal CD4⁺ lymphocyte count. Anti-HIV antibody were negative. A computed tomography scan of the chest revealed patchy opacities in both lower lungs, a nonspecific manifestation. However, metagenomic next-generation sequencing (mNGS) of bronchoalveolar lavage fluid detected high <em>Pneumocystis jiroveci</em> sequence counts and a markedly elevated 1,3-β-D-glucan test titer. Following the diagnosis of non-HIV-infected PJP, the patient was discharged after 13 days with a positive outcome, attained through systematic management involving Trimethoprim-sulfamethoxazole anti-infective medication and stringent glycemic control.</div></div><div><h3>Conclusion</h3><div>Insufficient glucose management may be an important susceptibility factor for immunocompetent persons with non-HIV-infected PJP patients. MNGS serves as an effective method for rapid diagnosis and medication adjustment when signs, symptoms, and imaging findings of PJP are nonspecific.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102289"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing","authors":"Minghan Shi ,&nbsp;Birubi Biman","doi":"10.1016/j.rmcr.2025.102220","DOIUrl":"10.1016/j.rmcr.2025.102220","url":null,"abstract":"<div><div>Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway. Definitive management with surgery is high risk, only performed in the highly specialized centers, and by the time they develop respiratory failure they may not be a candidate for surgery due to difficulty intubation. Consequently, they often end up with long term BiPAP dependent and suffer from side effects of abdominal, facial pain and depression. Heliox is low density gas mixture which can facilitate oxygen delivery in narrowed airway. Here we report a case of Morquio A syndrome patient with 24-h BiPAP dependence and successfully treated with Heliox and weaned off BiPAP for 4 hours a day with improved quality of life.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102220"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Idiopathic CD4 lymphocytopenia: An uncommon but fatal cause of Pneumocystis pneumonia","authors":"Julia Schearer ,&nbsp;Christopher Merrick","doi":"10.1016/j.rmcr.2025.102177","DOIUrl":"10.1016/j.rmcr.2025.102177","url":null,"abstract":"<div><div><em>Pneumocystis</em> pneumonia (PCP) is a fungal infection with primary occurrence in immunocompromised individuals by the etiologic agent <em>Pneumocystis jirovecii</em>. In those without previously identified risk factors, maintaining an index of suspicion for this diagnosis with search for underlying immunosuppressive cause is of utmost importance. Here, we present a case of fatal PCP in a patient without a known history of immunocompromise subsequently diagnosed with idiopathic CD4 lymphocytopenia (ICL) with an absolute CD4⁺ T-cell count of 7 cells/uL.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"54 ","pages":"Article 102177"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143349530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A seeded seroma transforming into tract Metastases: Rare complications of image-guided pleural biopsies","authors":"Wui Mei Chew ,&nbsp;Ken Junyang Goh ,&nbsp;Jessica Thorne ,&nbsp;Alguili ElSheikh ,&nbsp;Najib M. Rahman","doi":"10.1016/j.rmcr.2025.102273","DOIUrl":"10.1016/j.rmcr.2025.102273","url":null,"abstract":"<div><div>Seromas are rare complications of ultrasound-guided pleural biopsies, and have not been described to be seeded with tract metastases before. We describe a case where a post-pleural biopsy seroma appeared to be resolving, but developed into a chest wall metastasis over a period of five months. This was an 84-year-old lady undergoing investigation for a malignant pleural effusion, and underwent a left pleural aspiration and ultrasound-guided pleural biopsies in the same sitting. The seroma presented as a painful swelling immediately after pleural biopsy, and was initially conservatively managed due to patient preference. Drainage of the effusion was performed two months after the procedure, and alleviated the patient's breathlessness but did not alter the resolution of the seroma. Serial ultrasound images illustrate the gradual changes in morphology from a hypoechoic collection to an echogenic, organized lesion with lobulated margins. In this case, despite the shrinking size of the original lesion, the patient's persistent pain and atypical ultrasound features of a solid lesion were suspicious for malignant transformation. Chest wall biopsy confirmed metastatic seeding five months after initial intervention. This case highlights the need for heightened surveillance for the development of tract seeding in patients with malignant effusion and seroma after pleural intervention. Delay in chest drainage may have contributed to the poor outcome.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102273"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sarcoidosis associated massive pleural Effusion: Case report and literature review","authors":"Sergio David Angulo ,&nbsp;Jessica Marcela Hermosa ,&nbsp;Juan José Montoya ,&nbsp;Isabel Cristina Sánchez ,&nbsp;María Alejandra López ,&nbsp;Marcela Patricia Orrego ,&nbsp;Ángela María Martínez","doi":"10.1016/j.rmcr.2025.102247","DOIUrl":"10.1016/j.rmcr.2025.102247","url":null,"abstract":"<div><div>Sarcoidosis is a systemic disease of unknown etiology, commonly involving the lungs. Pleural effusion is an uncommon initial manifestation. We present a case of massive recurrent pleural effusion refractory to corticosteroids, requiring surgical decortication and immunosuppressive therapy, with a favorable clinical outcome.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102247"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144772931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of 8-year regression of intratracheal granulation due to tracheostomy cannula after local injection of triamcinolone acetonide","authors":"Ryo Hashimoto ,&nbsp;Kohno Mitsutomo ,&nbsp;Onozawa Hiroto ,&nbsp;Aruga Naohiro ,&nbsp;Ohiwa Kana ,&nbsp;Nakagawa Tomoki ,&nbsp;Ryota Masuda ,&nbsp;Masayuki Iwazaki","doi":"10.1016/j.rmcr.2025.102252","DOIUrl":"10.1016/j.rmcr.2025.102252","url":null,"abstract":"<div><h3>Background</h3><div>Granulations may form in the trachea during tracheostomy cannula placement, resulting in airway narrowing. Managing stenosis is difficult when the cannula cannot be removed. Herein, we report a case of long-term regression and maintenance of intratracheal granulation following local injection of triamcinolone acetonide (TA).</div></div><div><h3>Case</h3><div>A 14-year-old boy presented to our pediatric department with epilepsy and psychomotor retardation. He was born at 24 weeks and 4 days of gestation and weighed 705 g at birth. He underwent a tracheostomy for tracheomalacia at 1 year of age. At the age of 12 years, granulation formed at the tip of the tracheostomy cannula, resulting in severe tracheal stenosis, which was repeatedly managed using ventilator management and replacement cannulas. As bronchoscopic cauterization and removal of the granulation tissue did not improve the condition, triamcinolone acetonide solution was injected into the granulation tissue three times, which resulted in regression of the granulation. Thereafter, no restenosis has been observed for more than 8 years.</div></div><div><h3>Conclusion</h3><div>We encountered a case in which the local injection of triamcinolone acetonide into the intratracheal granulation caused by a tracheostomy cannula was very effective, and no regrowth of the granulation was observed for a long period of time, even though the cannula remained in place.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102252"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144557004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pleural dissemination of epithelioid hemangioendothelioma diagnosed using semi-rigid thoracoscopic pleural cryobiopsy","authors":"Tomoya Horiguchi ,&nbsp;Shin Hasegawa ,&nbsp;Yoshiko Shigeyasu ,&nbsp;Nanami Kiryu ,&nbsp;Maki Ota ,&nbsp;Shotaro Okachi ,&nbsp;Yasuhiro Goto ,&nbsp;Naozumi Hashimoto ,&nbsp;Kenji Kawada ,&nbsp;Kazuyoshi Imaizumi","doi":"10.1016/j.rmcr.2025.102276","DOIUrl":"10.1016/j.rmcr.2025.102276","url":null,"abstract":"<div><div>Epithelioid hemangioendothelioma (EHE) with pleural involvement presents significant diagnostic challenges, particularly in terms of differentiating it from malignant pleural effusion caused by other types of cancer, such as lung carcinoma. While most cases of EHE follow an indolent course, some can deteriorate rapidly, particularly those with serosal involvement such as pleural metastasis. In this report, we describe a case in which semi-rigid thoracoscopic cryobiopsy under local anesthesia yielded adequate specimens safely for diagnosis of pleural dissemination of EHE. The patient was a 46-year-old woman who had been diagnosed with multifocal EHE affecting the liver and both lungs a decade earlier. After radiofrequency ablation for the hepatic lesions and 2 years of chemotherapy, she was monitored without specific treatment for approximately 8 years with no significant tumor progression. She presented to our department following a rapid increase in left-sided pleural effusion over the previous month. Based on the clinical course and imaging findings, the diagnosis was initially difficult. However, thoracoscopic cryobiopsy provided definitive confirmation of pleural EHE.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102276"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144864117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: Use of sotatercept to treat pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia","authors":"Abinaya Ramakrishnan ,&nbsp;Scott Olitsky ,&nbsp;Rajan Saggar ,&nbsp;Richard N. Channick ,&nbsp;Justin P. McWilliams","doi":"10.1016/j.rmcr.2025.102291","DOIUrl":"10.1016/j.rmcr.2025.102291","url":null,"abstract":"<div><div>This case report describes a 45-year-old female with HHT type 1 (ENG mutation) and congenital heart disease (sinus venosus atrial septal defect and partial anomalous pulmonary venous return), diagnosed with severe PAH at age 16. Despite long-term treatment with epoprostenol, treprostinil, macitentan, and tadalafil, her condition progressed, leading to evaluation for lung transplantation. In May 2024, sotatercept, a novel TGF-β superfamily ligand trap, was initiated, resulting in significant improvement in exertional capacity and quality of life. The patient experienced increased epistaxis frequency (2–4 episodes/week), though hemoglobin levels rose from 13.0 to 15.4 g/dL. No new telangiectasias or other adverse events were noted. This is the first reported case of sotatercept use in PAH with HHT, highlighting its potential efficacy but also the need for careful monitoring due to increased bleeding risk.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102291"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145099027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}