Pub Date : 2024-11-19eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70061
Nai-Chien Huan, Khai Lip Ng, Larry Ellee Nyanti, Jing Yi Khaw, Jiun Hang Lee, Nur Husna Mohd Aminudin, Dahziela Yunus, Nusaibah Azman, Maryam Ahmad Sharifuddin, Hema Yamini Ramarmuty, Kunji Kannan Sivaraman Kannan
A third of patients with non-Hodgkin's lymphoma (NHL) develop pleural effusion during the disease course for various reasons. In most cases, lymphoma-related pleural effusion is a manifestation of widespread systemic disease, signifying a high tumour burden and therefore, a poorer prognosis. On the other hand, primary pleural lymphomas (PPLs) exhibit exclusive or dominant involvement of serous cavities, without detectable solid tumour masses. PPL is an uncommon disease and is of two types: primary effusion lymphoma (PEL) and diffuse large B-cell lymphoma associated with chronic inflammation (DLBCL-CI). PPLs not related to PELs and DLBCL-CIs are exceedingly rare. Herein, we describe four patients with biopsy proven B-cell NHL. One had no extra-pleural involvement at the time of diagnosis, indicating PPL. In all cases, histopathological examination of pleural biopsies obtained via medical thoracoscopy (MT) were crucial in clinching the final diagnosis. Clinicians are alerted to the potential relationship between exudative effusion and NHL as well as the role of MT in the diagnosis of B-cell NHL.
三分之一的非霍奇金淋巴瘤(NHL)患者在病程中会因各种原因出现胸腔积液。在大多数情况下,与淋巴瘤相关的胸腔积液是广泛的全身性疾病的一种表现,意味着肿瘤负荷较高,因此预后较差。另一方面,原发性胸膜淋巴瘤(PPLs)表现为浆液腔完全或主要受累,没有可检测到的实体瘤肿块。原发性胸膜淋巴瘤是一种不常见的疾病,分为两种类型:原发性渗出淋巴瘤(PEL)和伴有慢性炎症的弥漫大B细胞淋巴瘤(DLBCL-CI)。与PEL和DLBCL-CI无关的PPL则极为罕见。在此,我们描述了四例活检证实为B细胞NHL的患者。其中一名患者在诊断时没有胸膜外受累,这表明该患者患有PPL。在所有病例中,通过内科胸腔镜(MT)获得的胸膜活检组织病理学检查是最终确诊的关键。临床医生应警惕渗出性积液与 NHL 之间的潜在关系,以及 MT 在诊断 B 细胞 NHL 中的作用。
{"title":"Utilizing medical thoracoscopy for the diagnosis of B-cell lymphoma presenting with pleural effusion: A case series.","authors":"Nai-Chien Huan, Khai Lip Ng, Larry Ellee Nyanti, Jing Yi Khaw, Jiun Hang Lee, Nur Husna Mohd Aminudin, Dahziela Yunus, Nusaibah Azman, Maryam Ahmad Sharifuddin, Hema Yamini Ramarmuty, Kunji Kannan Sivaraman Kannan","doi":"10.1002/rcr2.70061","DOIUrl":"10.1002/rcr2.70061","url":null,"abstract":"<p><p>A third of patients with non-Hodgkin's lymphoma (NHL) develop pleural effusion during the disease course for various reasons. In most cases, lymphoma-related pleural effusion is a manifestation of widespread systemic disease, signifying a high tumour burden and therefore, a poorer prognosis. On the other hand, primary pleural lymphomas (PPLs) exhibit exclusive or dominant involvement of serous cavities, without detectable solid tumour masses. PPL is an uncommon disease and is of two types: primary effusion lymphoma (PEL) and diffuse large B-cell lymphoma associated with chronic inflammation (DLBCL-CI). PPLs not related to PELs and DLBCL-CIs are exceedingly rare. Herein, we describe four patients with biopsy proven B-cell NHL. One had no extra-pleural involvement at the time of diagnosis, indicating PPL. In all cases, histopathological examination of pleural biopsies obtained via medical thoracoscopy (MT) were crucial in clinching the final diagnosis. Clinicians are alerted to the potential relationship between exudative effusion and NHL as well as the role of MT in the diagnosis of B-cell NHL.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70061"},"PeriodicalIF":0.8,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11574453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677194","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}
Pub Date : 2024-11-18eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70066
William Griffin, Nina Mac Auley Srinivasan, Aurelie Fabre, David Healy
A man in his 40s was incidentally found to have a large right sided apical pleural based mass on imaging. This was further investigated with a CT-guided biopsy. Histological and immunohistochemical analysis of the tissue revealed a diagnosis of a Schwannoma: a rare, slow-growing benign nerve sheath tumour. Only a handful of pleural based Schwannomas have been documented in the literature. They account for about 0.2% of lung tumours. The patient was referred to cardiothoracic surgery who advised surgical resection of the mass, which he is awaiting. Here, we report a rare case of a pleural based Schwannoma which was diagnosed incidentally on chest x-ray.
一名 40 多岁的男子在影像学检查中意外发现右侧心尖胸膜有一个巨大的肿块。经进一步检查,在 CT 引导下进行了活检。组织学和免疫组化分析显示,诊断结果为许旺瘤:一种罕见、生长缓慢的良性神经鞘瘤。文献中仅记录了少数基于胸膜的许旺瘤。它们约占肺部肿瘤的 0.2%。患者被转到心胸外科,心胸外科建议对肿块进行手术切除,目前患者正在等待手术。在此,我们报告了一例罕见的胸膜许旺瘤病例,该病例是在胸部 X 光检查中偶然被诊断出来的。
{"title":"An incidental finding of a pleural based schwannoma.","authors":"William Griffin, Nina Mac Auley Srinivasan, Aurelie Fabre, David Healy","doi":"10.1002/rcr2.70066","DOIUrl":"10.1002/rcr2.70066","url":null,"abstract":"<p><p>A man in his 40s was incidentally found to have a large right sided apical pleural based mass on imaging. This was further investigated with a CT-guided biopsy. Histological and immunohistochemical analysis of the tissue revealed a diagnosis of a Schwannoma: a rare, slow-growing benign nerve sheath tumour. Only a handful of pleural based Schwannomas have been documented in the literature. They account for about 0.2% of lung tumours. The patient was referred to cardiothoracic surgery who advised surgical resection of the mass, which he is awaiting. Here, we report a rare case of a pleural based Schwannoma which was diagnosed incidentally on chest x-ray.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70066"},"PeriodicalIF":0.8,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11570798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668828","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}
Pub Date : 2024-11-18eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70065
Ken Ka Pang Chan, Jason Siu Hang Wong, Wing Ho Yip
Chylothorax contains an abundant amount of immunoglobulins and white blood cells, leading to the belief that superimposed pleural infection is unlikely. We report two cases of biochemically confirmed chylothorax due to cirrhosis, complicated by superimposed pleural infection following repeated pleural interventions. These findings highlight the potential for superimposed infection in chylothorax and challenge the belief in the bacteriostatic effect of chyle. Clinical vigilance is essential to consider this possibility if features of infection arise during the management of chylothorax.
{"title":"Superimposed pleural infection in cirrhotic chylothorax.","authors":"Ken Ka Pang Chan, Jason Siu Hang Wong, Wing Ho Yip","doi":"10.1002/rcr2.70065","DOIUrl":"10.1002/rcr2.70065","url":null,"abstract":"<p><p>Chylothorax contains an abundant amount of immunoglobulins and white blood cells, leading to the belief that superimposed pleural infection is unlikely. We report two cases of biochemically confirmed chylothorax due to cirrhosis, complicated by superimposed pleural infection following repeated pleural interventions. These findings highlight the potential for superimposed infection in chylothorax and challenge the belief in the bacteriostatic effect of chyle. Clinical vigilance is essential to consider this possibility if features of infection arise during the management of chylothorax.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70065"},"PeriodicalIF":0.8,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11570799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668834","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}
Pub Date : 2024-11-18eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70063
Harshana Bandara, Michael D Davis, Stephen J Fowler
Plastic bronchitis is rare in adult pulmonology and has a wide range of aetiology. Cast analysis is key in narrowing down the differential diagnosis of plastic bronchitis. If suspected of having lymphocytic PB, complete imaging to evaluate thoracic lymphatics is important to find out the potential causes for PB.
{"title":"Plastic bronchitis in an adult.","authors":"Harshana Bandara, Michael D Davis, Stephen J Fowler","doi":"10.1002/rcr2.70063","DOIUrl":"10.1002/rcr2.70063","url":null,"abstract":"<p><p>Plastic bronchitis is rare in adult pulmonology and has a wide range of aetiology. Cast analysis is key in narrowing down the differential diagnosis of plastic bronchitis. If suspected of having lymphocytic PB, complete imaging to evaluate thoracic lymphatics is important to find out the potential causes for PB.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70063"},"PeriodicalIF":0.8,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11574107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677193","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}
Pub Date : 2024-11-12eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70060
Arshia Batool, Qura-Tul Ain, Allahdad Khan, Humaira Siddique, Muhammad Islam, Aseel Kamal
Giant cell tumour of the tibia with pulmonary metastasis is very rare and the malignancy usually appears several years after the initial lesion. Imaging at the earliest instance is highly beneficial since surgical resection to remove the metastases raises survival rates; therefore, relentless follow-up in GCT is vital.
{"title":"Pulmonary metastasis of giant cell tumour of tibia.","authors":"Arshia Batool, Qura-Tul Ain, Allahdad Khan, Humaira Siddique, Muhammad Islam, Aseel Kamal","doi":"10.1002/rcr2.70060","DOIUrl":"https://doi.org/10.1002/rcr2.70060","url":null,"abstract":"<p><p>Giant cell tumour of the tibia with pulmonary metastasis is very rare and the malignancy usually appears several years after the initial lesion. Imaging at the earliest instance is highly beneficial since surgical resection to remove the metastases raises survival rates; therefore, relentless follow-up in GCT is vital.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70060"},"PeriodicalIF":0.8,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630018","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}
Pub Date : 2024-11-06eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70053
Nina M Janssen, Rein Posthuma, Sophie Kienhorst, Michiel A G E Bannier, Ulrich C Lalji, Frits M E Franssen, Roy T M Sprooten
Pleural empyema is a severe condition associated with high morbidity and mortality. Treatment usually consists of pleural drainage with chest tube or surgery, in combination with antimicrobial treatment. Severe pneumonia can evolve in a necrotizing pneumonia, given a higher susceptibility to the occurrence of bronchopleural fistulas with persistent air leaks. This complicates recovery, and surgery may not always be the optimal treatment. We present a case involving a 17-year-old female patient who experienced a post-operative persistent air leak due to necrotizing pneumonia after video-assisted thoracic surgery decortication for empyema, which was successfully treated using an endobronchial valve. After 6 months the valve was removed without complications. Follow-up imaging and lung function revealed a limited area of atelectasis and minimal pleural thickening with normal lung volumes.
{"title":"Successful treatment of a persistent air leak with an endobronchial valve in a 17-year-old patient with necrotizing pneumonia.","authors":"Nina M Janssen, Rein Posthuma, Sophie Kienhorst, Michiel A G E Bannier, Ulrich C Lalji, Frits M E Franssen, Roy T M Sprooten","doi":"10.1002/rcr2.70053","DOIUrl":"10.1002/rcr2.70053","url":null,"abstract":"<p><p>Pleural empyema is a severe condition associated with high morbidity and mortality. Treatment usually consists of pleural drainage with chest tube or surgery, in combination with antimicrobial treatment. Severe pneumonia can evolve in a necrotizing pneumonia, given a higher susceptibility to the occurrence of bronchopleural fistulas with persistent air leaks. This complicates recovery, and surgery may not always be the optimal treatment. We present a case involving a 17-year-old female patient who experienced a post-operative persistent air leak due to necrotizing pneumonia after video-assisted thoracic surgery decortication for empyema, which was successfully treated using an endobronchial valve. After 6 months the valve was removed without complications. Follow-up imaging and lung function revealed a limited area of atelectasis and minimal pleural thickening with normal lung volumes.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70053"},"PeriodicalIF":0.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590971","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}
Pub Date : 2024-11-03eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70058
Dylan Beinart, Siaw Ming Chai, Olivia Walsh, Sanjay Ramakrishnan, John Blakey
We report the long term follow up of a now 66-year-old male with laryngo-tracheobronchial amyloidosis. The patient initially presented with dysphonia and dyspnoea. He was diagnosed with laryngeal reflux and asthma. Seven years later, the patient underwent cross sectional thoracic imaging showing diffuse thickening of the distal trachea and proximal main bronchi. The patient's FEV1 and FVC remained stable over 13 years and no intervention was required.
{"title":"Watchful waiting in laryngo-tracheobronchial amyloid: A case report.","authors":"Dylan Beinart, Siaw Ming Chai, Olivia Walsh, Sanjay Ramakrishnan, John Blakey","doi":"10.1002/rcr2.70058","DOIUrl":"10.1002/rcr2.70058","url":null,"abstract":"<p><p>We report the long term follow up of a now 66-year-old male with laryngo-tracheobronchial amyloidosis. The patient initially presented with dysphonia and dyspnoea. He was diagnosed with laryngeal reflux and asthma. Seven years later, the patient underwent cross sectional thoracic imaging showing diffuse thickening of the distal trachea and proximal main bronchi. The patient's FEV1 and FVC remained stable over 13 years and no intervention was required.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70058"},"PeriodicalIF":0.8,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11532455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577023","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}
Pub Date : 2024-10-30eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70059
Yunjie Cui, Bo Wang, Cuiping Yang
Large amount of caseating overlying on bronchus were detected under bronchoscopy in our case. Bronchoalveolar lavage is a major method for diagnosing tuberculosis (TB). TB dissemination caused by bronchoalveolar lavage is very rare. In this case, the patient developed fever after bronchoalveolar lavage and CT confirmed acute dissemination. This might be related to caseating EBTB.
{"title":"Imaging of acute dissemination of tuberculosis caused by alveolar lavage surgery in endobronchial tuberculosis characterized by caseous necrosis.","authors":"Yunjie Cui, Bo Wang, Cuiping Yang","doi":"10.1002/rcr2.70059","DOIUrl":"10.1002/rcr2.70059","url":null,"abstract":"<p><p>Large amount of caseating overlying on bronchus were detected under bronchoscopy in our case. Bronchoalveolar lavage is a major method for diagnosing tuberculosis (TB). TB dissemination caused by bronchoalveolar lavage is very rare. In this case, the patient developed fever after bronchoalveolar lavage and CT confirmed acute dissemination. This might be related to caseating EBTB.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70059"},"PeriodicalIF":0.8,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548199","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}
Pub Date : 2024-10-30eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70055
Menna Megahed, Roozbeh Sharif, Yazan Abdeen
Pulmonary carcinoids are uncommon malignant neoplasms, believed to derive from specialized neuroendocrine cells known as Kulchitsky cells. We evaluated a 69-year-old female presenting symptoms consistent with carcinoid syndrome, such as intermittent flushing and diarrhoea, along with complaints of shortness of breath and cough. Imaging revealed bilateral lung nodules, confirmed by biopsy to be carcinoid tumours. The treatment of choice for carcinoid tumours is complete surgical resection. Nonetheless, individualized management plans are crafted based on the tumour's location and the patient's respiratory function as these present challenges to anatomical resection of tumours.
{"title":"Synchronous bilateral typical pulmonary carcinoid tumours diagnosed by robotic navigation bronchoscopy: A unique case.","authors":"Menna Megahed, Roozbeh Sharif, Yazan Abdeen","doi":"10.1002/rcr2.70055","DOIUrl":"10.1002/rcr2.70055","url":null,"abstract":"<p><p>Pulmonary carcinoids are uncommon malignant neoplasms, believed to derive from specialized neuroendocrine cells known as Kulchitsky cells. We evaluated a 69-year-old female presenting symptoms consistent with carcinoid syndrome, such as intermittent flushing and diarrhoea, along with complaints of shortness of breath and cough. Imaging revealed bilateral lung nodules, confirmed by biopsy to be carcinoid tumours. The treatment of choice for carcinoid tumours is complete surgical resection. Nonetheless, individualized management plans are crafted based on the tumour's location and the patient's respiratory function as these present challenges to anatomical resection of tumours.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70055"},"PeriodicalIF":0.8,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548201","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}
Pub Date : 2024-10-29eCollection Date: 2024-11-01DOI: 10.1002/rcr2.70057
Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker-Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with CYCLIN-O (CCNO) mutations. We report a novel compound mutation in the CCNO gene in an adult Chinese Singaporean exhibiting chronic productive cough since childhood and recurrent sino-pulmonary infections. Low nasal nitric oxide and bronchiectasis suggests PCD. Bronchoscopy for epithelial and nasal brushings for ciliary studies were repeated after adequate treatment of lower respiratory tract infections. Demonstration of oligo-cilia via transmission electron microscopy, and detection of CCNO mutation through genetic analysis were utilized to diagnose RGMC. Repeated courses of antibiotics including nebulised antibiotics were used to treat recurrent infections and exacerbations. Airway clearance techniques, immunizations and collaboration with otorhinolaryngologist form part of the long-term management. Heightened clinical suspicion and adherence to established diagnostic algorithms are essential for timely recognition of this entity.
{"title":"Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.","authors":"Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker-Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade","doi":"10.1002/rcr2.70057","DOIUrl":"10.1002/rcr2.70057","url":null,"abstract":"<p><p>Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with <i>CYCLIN-O (CCNO)</i> mutations. We report a novel compound mutation in the <i>CCNO</i> gene in an adult Chinese Singaporean exhibiting chronic productive cough since childhood and recurrent sino-pulmonary infections. Low nasal nitric oxide and bronchiectasis suggests PCD. Bronchoscopy for epithelial and nasal brushings for ciliary studies were repeated after adequate treatment of lower respiratory tract infections. Demonstration of oligo-cilia via transmission electron microscopy, and detection of <i>CCNO</i> mutation through genetic analysis were utilized to diagnose RGMC. Repeated courses of antibiotics including nebulised antibiotics were used to treat recurrent infections and exacerbations. Airway clearance techniques, immunizations and collaboration with otorhinolaryngologist form part of the long-term management. Heightened clinical suspicion and adherence to established diagnostic algorithms are essential for timely recognition of this entity.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 11","pages":"e70057"},"PeriodicalIF":0.8,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548200","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}