Respiratory Medicine Case Reports最新文献

{"title":"The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series","authors":"Jordi Costa i Colomer ,&nbsp;Marta Garcia-Moyano ,&nbsp;Luis Maiz ,&nbsp;Santiago Perez-Tarazona ,&nbsp;Marta Ruiz de Valbuena ,&nbsp;Leticia Ceberio ,&nbsp;Patricia Correcher ,&nbsp;Natalia Juliá-Palacios ,&nbsp;Montse Morales ,&nbsp;Gema Pérez-Yagüe ,&nbsp;Jesús Villarrubia ,&nbsp;Raquel Pérez-Rojo","doi":"10.1016/j.rmcr.2025.102202","DOIUrl":"10.1016/j.rmcr.2025.102202","url":null,"abstract":"<div><h3>Background</h3><div>Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes. Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, progressive, and often fatal LSD with an estimated prevalence of 1-in-50,000–250,000 individuals. The PrevASMD study established the ASMD prevalence in Spain at 35 patients. Almost all present asymptomatic interstitial lung disease (ILD), since &gt;90 % patients with chronic visceral ASMD have radiographic evidence of ILD.</div></div><div><h3>Objective</h3><div>This case series aims to emphasize the importance of ASMD in adult and pediatric patients with ILD, and to underline the consideration of pulmonary involvement as a key feature of the multisystemic manifestation of ASMD.</div></div><div><h3>Methods</h3><div>This case series describes seven adult and pediatric cases of ASMD in Spain. All presented with pulmonary function impairment. Data were collected on clinical presentation, diagnostic workup, pulmonary function tests, imaging studies, and patient outcomes during follow up.</div></div><div><h3>Results</h3><div>Sphingomyelin accumulation in ASMD leads to multi-systemic disease involving spleen, liver, lungs, bone marrow, and lymph nodes. Almost all patients presented with asymptomatic ILD, but not all of them exhibited respiratory symptoms and not all were referred to pulmonologists. Periodic assessments included pulmonary function testing (forced vital capacity and diffusing capacity for carbon monoxide), O2 saturation, and exercise tolerance testing.</div></div><div><h3>Conclusion</h3><div>ASMD patients presented with different target organ involvement, with lung involvement contributing significantly to patient morbi-mortality. ASMD diagnostic suspicion among pulmonologists treating ILD is thus crucial, as multidisciplinary monitoring of ILD as a feature of ASMD can ensure its correct management and follow-up.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102202"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143873726","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 successful diagnostic case of Varicella zoster virus pneumonia by a Film Array assay for meningitis/encephalitis","authors":"Nobuhiro Asai ,&nbsp;Atsuko Yamada ,&nbsp;Akiko Nakamura ,&nbsp;Tomoko Ohno ,&nbsp;Narimi Miyazaki ,&nbsp;Yuzuka Kawamoto ,&nbsp;Mina Takayama ,&nbsp;Daisuke Sakanashi ,&nbsp;Toshihiro Ohta ,&nbsp;Yuichi Shibata ,&nbsp;Hideo Kato ,&nbsp;Mao Hagihara ,&nbsp;Nobuaki Mori ,&nbsp;Hiroshige Mikamo","doi":"10.1016/j.rmcr.2025.102180","DOIUrl":"10.1016/j.rmcr.2025.102180","url":null,"abstract":"<div><h3>Introduction</h3><div>Although varicella zoster virus (VZV) infection is generally considered self-limiting and shows a favorable outcome, herpes zoster (HZ) can cause several complications such as neurological pain or meningitis, which lowers the patients’ quality of life. HZ rarely manifests VZV pneumonia, resulting in a poor prognosis with a high mortality rate of 10–30 % if requiring a mechanical ventilation. Here, we present a rare successfully managed case of VZV pneumonia.</div></div><div><h3>Case presentation</h3><div>A 90-year-old man with a medical history of angina pectoris, prostate cancer, dementia, and brain infarction was diagnosed with pneumonia and was admitted to our institute. Four days before the admission, he had visited our outpatient clinic, where he had received anti-herpes therapy due to HZ on the right limb. Although TAZ/PIPC was started empirically, his respiratory status deteriorated. On day 3, we performed a Film Array Meningitis/Encephalitis (ME) PCR panel on a sputum specimen and VZV was identified. Thus, he was diagnosed as having VZV pneumonia and antiviral therapy with acyclovir was started. Since the patient's condition was improved, the antiviral therapy was ended on day 18. Despite that his VZV pneumonia was successfully cured, he passed away due to old age on day 63.</div></div><div><h3>Conclusion</h3><div>Due to poor medical conditions, some elderly patients cannot tolerate bronchoalveolar lavage fluid for diagnosing VZV pneumonia. Film Array ME panel on sputum specimen is a useful method to the diagnosis of VZV pneumonia.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"54 ","pages":"Article 102180"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143511740","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":"Combined extracorporeal membrane oxygenation support and patent ductus arteriosus ligation following surgical correction for congenital diaphragmatic hernia, a case report and literature review","authors":"Kun-Yao Hong ,&nbsp;Zhi Zheng ,&nbsp;Yi-Rong Zheng ,&nbsp;Hong Liang ,&nbsp;Liang Gao ,&nbsp;Yu-Cong Lin ,&nbsp;Jin-Xi Huang ,&nbsp;Qiang Chen ,&nbsp;Xin-Zhu Lin","doi":"10.1016/j.rmcr.2025.102215","DOIUrl":"10.1016/j.rmcr.2025.102215","url":null,"abstract":"<div><div>Our department recently achieved a successful outcome in a case of right-sided CDH. The patient required emergent surgery for right-sided diaphragmatic hernia repair due to severe hypoxemia, followed by urgent bedside venous-arterial ECMO and simultaneous bedside ECMO-assisted patent ductus arteriosus ligation, necessitated by severe hypoxemia and pulmonary hypertension. During the second day on ECMO, the patient developed intracranial hemorrhage, leading to the performance of a lateral ventriculostomy. Fortunately, the patient was successfully weaned off ECMO. This report presents an analysis of the clinical data from this case and shares insights from our experience.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102215"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895730","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":"Chylothorax complicating extrathoracic sarcoidosis","authors":"Tarik Al-Bermani ,&nbsp;Ralph Sabang ,&nbsp;Oleg Epelbaum","doi":"10.1016/j.rmcr.2025.102230","DOIUrl":"10.1016/j.rmcr.2025.102230","url":null,"abstract":"<div><div>Clinically significant pleural effusion is an extremely rare manifestation of sarcoidosis. Chylothorax associated with sarcoidosis is an even rarer phenomenon reported in the literature only as individual cases. According to the available literature, whenever chylothorax has occurred in the setting of sarcoidosis, this has almost invariably been in the setting of lymphadenopathy or at least in the setting of prior or concurrent evidence of thoracic sarcoidosis. We describe a patient with biopsy-proven abdominal sarcoidosis who developed chylothorax in the absence of lymphadenopathy or thoracic involvement and whose chylothorax rapidly and durably resolved after resumption of corticosteroid therapy.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"56 ","pages":"Article 102230"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143907660","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":"Clot in transit in a patient with massive pulmonary embolism: A case report of successful catheter directed thrombectomy","authors":"Patrick C. Magnus ,&nbsp;Stephanie Cull","doi":"10.1016/j.rmcr.2025.102205","DOIUrl":"10.1016/j.rmcr.2025.102205","url":null,"abstract":"<div><div>Clot in transit is a potentially catastrophic entity in the setting of a massive pulmonary embolism. There have been previous reports of various therapeutic strategies however the optimal treatment is unknown. We present a case of massive pulmonary embolism complicated by clot in transit which was quickly recognized and expeditiously treated with catheter directed thrombectomy with a good clinical outcome.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102205"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892236","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":"Response of EGFR-mutated pulmonary pleomorphic carcinoma to pembrolizumab","authors":"Yuki Hatakeyama ,&nbsp;Hidenori Mizugaki ,&nbsp;Noriyuki Yamada ,&nbsp;Yasushi Mizukami ,&nbsp;Ken Kuwahara ,&nbsp;Hajime Asahina ,&nbsp;Hirofumi Adachi ,&nbsp;Hiroshi Yokouchi ,&nbsp;Yoshihiro Matsuno ,&nbsp;Satoshi Oizumi","doi":"10.1016/j.rmcr.2025.102234","DOIUrl":"10.1016/j.rmcr.2025.102234","url":null,"abstract":"<div><div>Pulmonary pleomorphic carcinoma (PPC) is a rare and aggressive lung malignancy with limited treatment options. While immune checkpoint inhibitors (ICIs) have shown promise in treating PPC, evidence regarding their efficacy in epidermal growth factor receptor (<em>EGFR</em>)-mutated cases remains scarce. We report a case of a woman in her 70s diagnosed with PPC harboring <em>EGFR</em> L858R + E709K mutations and high expression (95 %) of programmed death-ligand 1 (PD-L1). After relapsing from concurrent chemoradiotherapy for a Pancoast tumor, the patient received osimertinib as second-line therapy. Despite an initial response, rapid disease progression necessitated left lower lobectomy, confirming PPC diagnosis. Subsequent treatment with pembrolizumab achieved notably tumor response. Although Grade 3 immune-related colitis developed, it was successfully managed with prednisolone, allowing completion of six courses of pembrolizumab. This case demonstrates the potential efficacy of ICIs in <em>EGFR</em>-mutated PPC, even after epidermal growth factor receptor -tyrosine kinase inhibitor (EGFR-TKI) failure and highlights the importance of appropriate adverse event management. Our findings suggest that ICIs may be a viable treatment option for <em>EGFR</em>-mutated PPC patients, particularly those with high PD-L1 expression.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"56 ","pages":"Article 102234"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144099429","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":"Effectiveness of afatinib after long-term gefitinib treatment for EGFR L858R and S768I compound mutation-positive lung adenocarcinoma: A case report","authors":"Ayuka Dai-Shinozaki ,&nbsp;Jun Sakakibara-Konishi ,&nbsp;Kanako C. Hatanaka ,&nbsp;Kento Wakabayashi ,&nbsp;Naofumi Shinagawa ,&nbsp;Yoshihiro Matsuno ,&nbsp;Yutaka Hatanaka ,&nbsp;Satoshi Konno","doi":"10.1016/j.rmcr.2025.102249","DOIUrl":"10.1016/j.rmcr.2025.102249","url":null,"abstract":"<div><div>Afatinib, a second-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI), irreversibly inhibits the pan-human epidermal growth factor receptor (HER) family. It is effective in patients with lung cancer with various <em>EGFR</em> mutations; however, its efficacy in overcoming resistance following first-line EGFR-TKI treatment remains unclear. Here, we report the case of a 68-year-old woman with lung adenocarcinoma (pStage IA, pT1bN0M0) who underwent surgical resection in March 2012 following several previous lung cancer resections. In November 2012, postoperative recurrence with pleural dissemination led to the detection of the <em>EGFR</em> L858R mutation in the malignant pleural effusion specimen using peptide nucleic acid-locked nucleic acid polymerase chain reaction clamping (PNA-LNA PCR clamp). The patient was treated with gefitinib for 8 years, after disease progression with multiple lung metastases. The metastatic lesions harbored compound <em>EGFR</em> S768I and <em>EGFR</em> L858R mutations, as identified using the Oncomine Dx Target Test Multi-CDx System (ODxTT). Treatment with afatinib resulted in rapid metastatic lesion regression. Reanalysis of the previously resected surgical specimens confirmed the presence of the <em>EGFR</em> S768I and L858R compound mutations in all samples, which suggests that S768I was not an acquired resistance mutation. Furthermore, immunohistochemical analysis revealed an increase in HER2 and HER3 protein expression in the gefitinib-resistant specimens. These findings suggest that HER2 and HER3 upregulation may contribute to gefitinib resistance, and that afatinib may effectively target these resistance mechanisms.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102249"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144572133","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":"Empyema associated with Actinomyces georgiae successfully treated with multimodal therapy including surgical intervention: A first case report","authors":"Senichi Fukuda ,&nbsp;Yuya Homma ,&nbsp;Hiroki Kawakami ,&nbsp;Soichiro Yamaji ,&nbsp;Yuki Sato ,&nbsp;Nao Sato ,&nbsp;Reina Idemitsu ,&nbsp;Taiki Kawai ,&nbsp;Naoki Inoshima ,&nbsp;Jun Hayashi ,&nbsp;Norihiko Kubota ,&nbsp;Tatsuya Nagai ,&nbsp;Ayumu Otsuki ,&nbsp;Hiroyuki Ito ,&nbsp;Hiroshi Sugimura ,&nbsp;Kei Nakashima","doi":"10.1016/j.rmcr.2025.102254","DOIUrl":"10.1016/j.rmcr.2025.102254","url":null,"abstract":"<div><div>A 77-year-old man presented with right-sided chest pain and dyspnea. Computed tomography revealed a loculated pleural effusion, and thoracentesis yielded purulent fluid. <em>Actinomyces georgiae</em> was identified using pleural fluid culture. Despite treatment with ampicillin-sulbactam and thoracic drainage, the patient's condition worsened, requiring video-assisted thoracoscopic surgery. The patient recovered completely after completing an 11-month course of antibiotics. This is the first reported case of empyema associated with <em>A. georgiae</em>. <em>Actinomyces</em> should be considered as a potential cause of empyema, and a comprehensive approach, including surgical intervention, is necessary for optimal management.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102254"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144569889","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":"Swyer James MacLeod Syndrome: A rare cause of recurrent respiratory infections case report","authors":"Mustafa Sahid Mahamoud ,&nbsp;Morten Hornemann Borg ,&nbsp;Ole Hilberg ,&nbsp;Anders Løkke Ottesen","doi":"10.1016/j.rmcr.2025.102261","DOIUrl":"10.1016/j.rmcr.2025.102261","url":null,"abstract":"<div><div>Swyer-James-MacLeod Syndrome (SJMS) is a rare pulmonary disorder that is often underdiagnosed or misdiagnosed, leading to delays in appropriate management. We present a case of a woman in her fifties with an unusual presentation of COVID-19 with recurrent respiratory infections and unilateral hyperlucent lung who was diagnosed with SJMS. This case report highlights the importance of considering SJMS in patients with recurrent respiratory infections and unilateral hyperlucent lung, shedding light on the treatment and management for this rare condition.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102261"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144604408","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":"Dendriform pulmonary ossification in military combat veterans: A case series","authors":"Jeremy T. Hua ,&nbsp;Carlyne D. Cool ,&nbsp;Tami J. Bang ,&nbsp;Silpa D. Krefft ,&nbsp;Richard C. Kraus ,&nbsp;Cecile S. Rose","doi":"10.1016/j.rmcr.2024.102156","DOIUrl":"10.1016/j.rmcr.2024.102156","url":null,"abstract":"<div><div>Dendriform pulmonary ossification (DPO) is a rare condition characterized by mature bone formation in the lung. DPO has been linked to various conditions, but little is known about the link between DPO and hazardous airborne exposures. We queried research databases of military personnel evaluated for deployment-related respiratory diseases at two occupational pulmonary medicine clinics (Colorado, USA) for diagnoses of DPO, and summarized demographics, Gulf War military deployment history, medical history, and pulmonary function testing. Chest imaging was independently reviewed and scored by a thoracic radiologist, and all cases had undergone lung tissue biopsy. We identified five male combat veterans with DPO, median age 49 years [range: 32–64]. All had deployed to Southwest Asia or Afghanistan during the First or Second Gulf War, and all reported frequent, intense exposure to diesel exhaust, burn pit emissions, and sandstorms. Lung physiology was abnormal in all cases. The most prevalent chest imaging and histopathology findings were airway-centric injury, inflammation, and retained particulate matter, suggesting substantial hazardous exposure during military deployment. This case series of a rare lung disease from the only two contemporary Colorado clinics serving previously deployed veterans highlights a potential link between airborne hazards and lung injury leading to DPO. A high index of clinical suspicion combined with a detailed occupational history may reveal additional exposure-related associations with DPO. Access to large medical databases of military veterans with linkage to exposure histories may further elucidate risk factors for lung injury with ossification, paving the way for targeted prevention.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102156"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061332","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}