Journal of investigative medicine high impact case reports最新文献

{"title":"Autoimmune Pulmonary Alveolar Proteinosis: A Rare Diagnosis in Pediatric Age.","authors":"Inês Pais-Cunha, Augusta Gonçalves, Sara Paulino, José Fontoura Matias, Silva Sónia, Catarina Ferraz, Inês Azevedo","doi":"10.1177/23247096251323188","DOIUrl":"10.1177/23247096251323188","url":null,"abstract":"<p><p>Autoimmune pulmonary alveolar proteinosis (AI-PAP) is a rare condition, especially in children. The clinical presentation ranges from asymptomatic forms to respiratory distress requiring ventilation. We describe the case of a 13-year-old adolescent male who presented to the emergency department with acute pleuritic chest pain not associated with systemic complaints. On examination, he had diminished breath sounds in the lower two thirds of the chest with no other abnormal findings; SpO₂ (oxygen saturation) was 98% on room air. Chest radiograph revealed a marked interstitial infiltrate, comparable with the one taken 4 years earlier during an acute illness that was presumptively treated with azithromycin. A computed tomography (CT) scan revealed multiple bilateral areas of ground-glass opacities with areas of crazy paving, involving > 65% of lung parenchyma, suggestive of pulmonary alveolar proteinosis (PAP). Respiratory viral testing, including for coronavirus (SARS-CoV2), was negative. Bronchoalveolar lavage performed in the outpatient setting revealed a milky fluid and positive periodic acid-Schiff staining. Spirometry indicated a mild restrictive pattern (forced vital capacity [FVC] = 77%) and diffusing capacity of the lungs for carbon monoxide (DLCO) showed a moderate decrease at 48.6%. No mutations associated with surfactant dysfunction were found on the genetic panel. Anti-granulocyte macrophage colony-stimulating factor (GM-CSF) antibody testing was strongly positive, raising suspicion for autoimmune PAP. At 20 months of follow-up, the patient remains asymptomatic with a normal spirometry. Although treatment with agents, such as the inhaled form of granulocyte-macrophage colony-stimulating factor (GM-CSF) appears promising for the treatment of symptomatic adult patients, as this patient remains asymptomatic, a conservative approach was taken, and he continues to be monitored in the clinic.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323188"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624945","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":"Unlocking the Mystery: Resident-Led POCUS Intervention in Community Hospital Revealing Pericardial Tamponade in a Complex Case.","authors":"Diana Othon-Martinez, Oscar J Lopez, Jessica Daza, Barbara X Malaga-Espinoza, Shakirat Ganiyu, Aramide Tijani","doi":"10.1177/23247096241298172","DOIUrl":"10.1177/23247096241298172","url":null,"abstract":"<p><p>Pericardial effusions, though relatively rare, can lead to life-threatening complications such as cardiac tamponade. While viral etiologies are common culprits, rapid and accurate diagnosis remains challenging. We present the case of a 74-year-old male with a history of upper respiratory infection who developed sudden onset dyspnea and chest discomfort. Bedside point-of-care ultrasound (POCUS) revealed a large pericardial effusion, prompting urgent intervention. Despite initially stable vital signs, the patient rapidly deteriorated, necessitating emergent pericardiocentesis. Laboratory findings and pathology results eventually ruled out common viral causes, guiding diagnosis toward coxsackieviruses A and B, echovirus, adenoviruses, or influenza. This case highlights the critical role of POCUS in resident-led community hospitals, in expediting the diagnosis of pericardial effusions and underscores the need for prompt intervention in cases of cardiac tamponade to prevent adverse outcomes.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096241298172"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523689","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":"Stress in Focus: A Rare Case of Mid-Ventricular Takotsubo Cardiomyopathy Presenting as Cardiac Asthma.","authors":"Hasan Munshi, Lefika Bathobakae, Aqsa Sorathia, Reshma John, Jesus Romero, Sheriff Elkattawy, Hartaj Virk","doi":"10.1177/23247096251336631","DOIUrl":"https://doi.org/10.1177/23247096251336631","url":null,"abstract":"<p><p>Mid-ventricular Takotsubo cardiomyopathy (TCM) is a variant of Takotsubo syndrome characterized by transient akinesis or dyskinesis of the mid-ventricular segments of the left ventricle, with sparing of the apical and basal segments. This differs from the typical apical form, which involves akinesis of the apical segments and hyperkinesis of the basal segments. Herein, we describe a unique case of mid-ventricular TCM presenting as cardiac asthma in a postmenopausal woman. Our patient reported a 2-day history of shortness of breath and intermittent wheezing that persisted even with respiratory treatment. Triage blood tests showed elevated troponin levels, and electrocardiogram was notable for septal Q waves, raising concern for acute coronary syndrome (ACS). Left heart catheterization revealed nonobstructive coronary artery disease, and ventriculography revealed mid-ventricular dyskinesia with a hypercontractile apex and base, consistent with mid-ventricular TCM. The ACS protocol was aborted, and the patient was managed conservatively with beta-blockers. Repeat echocardiogram at the 3-month follow-up showed recovered heart function, with no wall motion abnormalities.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251336631"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004254","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":"Concurrent Coccidioidomycosis and <i>Mycobacterium abscessus</i> Infection in Chronic Obstructive Pulmonary Disease.","authors":"Lakshmi Kattamuri, Angelica Zambrano, Sparsha Reddy Duvvuru, Kunal Sharma, Abhizith Deoker","doi":"10.1177/23247096251334229","DOIUrl":"https://doi.org/10.1177/23247096251334229","url":null,"abstract":"<p><p>Coccidioidomycosis, endemic in the southwestern United States, can lead to severe pulmonary complications, particularly in chronic obstructive pulmonary disease (COPD) patients with poor lung reserves. <i>Mycobacterium abscessus</i> has a predisposition for structurally damaged lungs, commonly causing difficult-to-treat bronchiectasis and cavitary lesions. We present the case of a 58-year-old patient with advanced COPD and a remote history of pulmonary coccidioidomycosis diagnosed 30 years earlier, who was found to have sputum and radiographic evidence of <i>M. abscessus</i> cavitary lung disease 4 years prior to admission, but was lost to follow-up. The current presentation is attributed to the progression of untreated <i>M. abscessus</i> infection and reactivation of latent <i>Coccidioides</i> infection. Despite the initiation of antifungal and antibiotic therapy, the subsequent course was complicated by the development of bronchopleural fistula and worsening respiratory failure, leading to an unfavorable outcome. This case highlights the diagnostic challenges associated with overlapping clinical and radiologic features of concurrent infections and devastating outcomes in patients with COPD. Prompt diagnostic testing and prolonged comprehensive therapy are of paramount importance in managing such complex infections.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251334229"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004892","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":"Brain Metastasis as the Initial Presentation of Carcinoid Tumor: Case Report and Literature Review.","authors":"Qusai A Alsalah, Taha Z Makhlouf, Donya Y Alqam, Maen HajMohammad, Ahmad G Hammouri, Marwan Qubaja, Bashir Abu Aqeel","doi":"10.1177/23247096251339308","DOIUrl":"https://doi.org/10.1177/23247096251339308","url":null,"abstract":"<p><p>Neuroendocrine neoplasms of the lung include neuroendocrine carcinomas and neuroendocrine tumors (NETs). NETs are also known as carcinoid tumors (CaTs), which are categorized as typical carcinoid and atypical carcinoid (AC). Pulmonary CaTs often metastasize to various sites, including regional lymph nodes, lungs, liver, and bone; however, metastasis to the brain is relatively rare. It is even rarer for patients with CaTs to present with signs of brain metastasis initially. We report the case of a 50-year-old female patient who initially presented with neurological symptoms and magnetic resonance imaging findings suggestive of multiple sclerosis. Despite initial treatment for multiple sclerosis, further evaluation uncovered a rare case of bronchopulmonary AC tumor metastasis to the brain. This case highlights the importance of considering metastatic disease in patients presenting with atypical neurological symptoms, especially when initial management fails to yield expected outcomes. Our literature review revealed 7 cases of CaTs initially presenting with brain metastases, with our patient being the youngest among all published cases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251339308"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028944","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":"Unveiling the Unexpected-Role of Unique Pathogens in Necrotizing Cavitary Pneumonia of Sickle Cell Disease: A Case Report.","authors":"Jayalekshmi Jayakumar, Manasa Ginjupalli, Fiqe Khan, Meher Ayyazuddin, Giovannie Isaac Coss, Muhammad Ashar Ali, Asmat Ullah","doi":"10.1177/23247096251334241","DOIUrl":"https://doi.org/10.1177/23247096251334241","url":null,"abstract":"<p><p>Sickle cell disease (SCD), prevalent in African Americans, is associated with numerous complications, including infections and pulmonary manifestations. Necrotizing cavitary pneumonia, a rare but severe complication, poses significant diagnostic challenges in patients with SCD. We report a 27-year-old male with SCD and history of pulmonary infarction from pulmonary embolism who presented with bilateral wrist pain, cough, and chest pain and was found to have necrotizing cavitary pneumonia. Initial imaging revealed significant right upper lobe cavitary consolidation. Despite negative sputum cultures, blood cultures identified <i>Staphylococcus epidermidis</i> and <i>Granulicatella</i>, atypical pathogens in pneumonia cases. Pain crisis treatment and treatment with antibiotics for pneumonia displayed significant improvement in symptoms. Our case highlights the necessity of considering unusual pathogens in SCD patients presenting with pneumonia, particularly those with prior pulmonary complications. Infections remain a leading cause of morbidity and mortality in SCD, underscoring the importance of rapid diagnosis and tailored management. Vigilant monitoring of cavitary lesions and prompt recognition of atypical pathogens can mitigate risks of severe pulmonary complications and improve patient outcomes. Additional research is required to delineate the epidemiology of rare infections in SCD and establish effective treatment protocols.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251334241"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967956","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":"Gastroduodenal Artery (GDA) Pseudoaneurysm as a Cause of Massive Upper Gastrointestinal (GI) Bleeding Years After Partial Gastrectomy.","authors":"Hussam Almasri, Sana Rabeeah, Guneet Sidhu, Arman Qurashi, John Bassett, Bisher Sawaf, Shahem Abbarh","doi":"10.1177/23247096251323076","DOIUrl":"10.1177/23247096251323076","url":null,"abstract":"<p><p>Gastroduodenal artery (GDA) pseudoaneurysm is a rare complication of gastric and pancreatic surgery. The presentation is often severe gastrointestinal (GI) bleeding with up to a 90% mortality rate. Proper identification of past gastrectomy based on history or endoscopic appearance is essential for timely embolization or surgery, given that endoscopic management often fails. Here, we present a 65-year-old man who has a history of gastric ulcer-related surgery without clear documentation and hypertension presented with hematemesis, black stools, and syncope. Upper endoscopy showed signs of gastroenterostomy with stenosis and duodenal ulcer with spurting hemorrhage. Two days after endoscopic therapy, a recurrence of massive GI bleeding was noted. A celiac arteriogram was done by interventional radiology, demonstrating a pseudoaneurysm off the GDA. Successful embolization was performed with helical coils. The GI bleeding stopped, and the patient became stable after that. The GDA pseudoaneurysm-related bleeding should always be suspected in patients who underwent gastrectomy, bypass surgery, or pancreatectomy. Endoscopic interventions are usually temporary and sometimes can only give anatomical correlation before angiogram and embolization offer a definite treatment. Patients with GDA pseudoaneurysm can be entirely asymptomatic for a long time. The most common site of bleeding is the duodenum. Surgical interventions can also be offered if an angiogram is not successful in stopping the bleeding.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323076"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677038","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":"The Perfect Storm: Co-occurrence of Agranulocytosis and Thyroid Storm Successfully Managed with Lithium Therapy.","authors":"Nikhil Vojjala, Omar Fathalla, Mahvish Renzu, Rishab Prabhu, Lakshmi Kattamuri, Geetha Krishnamoorthy, Wael Taha","doi":"10.1177/23247096251336657","DOIUrl":"https://doi.org/10.1177/23247096251336657","url":null,"abstract":"<p><p>A thyroid storm is a medical emergency that requires high clinical suspicion and emergency treatment. We report an unusual case of thyroid storm and agranulocytosis managed with lithium therapy. The patient is a 32-year-old woman with a history of Graves' disease on methimazole therapy who presented to the emergency department with fever and palpitations. She was diagnosed with COVID-19 infection a week ago. She was febrile and tachycardic with fine tremors on examination. Routine laboratory workup showed agranulocytosis. Serum thyroid-stimulating hormone levels are <0.01 µIU/ml (normal range is 0.45-5.33) with elevated T4 and T3 (10.4 pcg/ml [2.1-4.1 pcg/ml], 4.34 ng/dl [0.61-1.24 ng/dl]). Burch-Wartofsky Point Scale score was 60 points, highly suggestive of thyroid storm. A clinical diagnosis of thyroid storm was made. The precipitating factor in this case was identified as the recent COVID-19 infection. Adding to the conundrum is the co-existent agranulocytosis, precluding the usage of antithyroid medications. She was treated with beta-blockers, intravenous fluids, and steroid therapy to suppress T4 to T3 conversion. Lithium was started, given her neutropenia and thyroid storm. She responded to oral lithium therapy and was discharged. During follow-up, her symptoms were controlled and leucopenia resolved. In conclusion, COVID-19 is a recognized precipitating factor for thyroid storms. It is very rare to see co-existent thyroid storm and agranulocytosis, and lithium can be a useful option in such cases. This case report adds to the minimal literature existing on lithium use in patients with thyroid storm.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251336657"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995960","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":"Diabetic Myonecrosis: Lessons in Recognizing and Treating a Rare Complication.","authors":"Brandon Garten, Mark Schwade, Saleh Alkathiri, Lane Perry","doi":"10.1177/23247096251331890","DOIUrl":"10.1177/23247096251331890","url":null,"abstract":"<p><p>Diabetic myonecrosis is a rare complication of poorly controlled diabetes that presents as spontaneous limb pain and swelling. It is associated with other microvascular diabetic complications such as nephropathy or retinopathy and is frequently misdiagnosed given its resemblance to infectious and vascular complications. We present a case of a 49-year-old male with poorly controlled type 2 diabetes and a history of recurrent thigh pain. This was initially treated as cellulitis, but the patient experienced persistent severe pain despite multiple rounds of antibiotics. Imaging with MRI ultimately confirmed a diagnosis of diabetic myonecrosis. The patient was successfully managed with a combination of aspirin, insulin therapy, and a multimodal pain regimen, leading to significant clinical improvement. This condition poses a diagnostic challenge due to its rarity and nonspecific presentation, often leading to delays in appropriate treatment. Prompt diagnosis with exclusionary testing and imaging, followed by appropriate management, can prevent severe complications. Additional research is needed to establish a standardized protocol for treating this condition.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251331890"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753033","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":"Refractory Vasospasm Presenting as Acute Myocardial Infarction.","authors":"Nismat Javed, Emamuzo Obaro Otobo, Ankita Gore, Maulin Patel, Nisha Ali, Amandeep Singh, Nassim Krim, Preeti Jadhav","doi":"10.1177/23247096251325426","DOIUrl":"10.1177/23247096251325426","url":null,"abstract":"<p><p>Refractory coronary artery spasm is a challenging condition with many complications, including acute myocardial infarction. We present the case of an elderly woman who developed refractory coronary artery vasospasm requiring extensive hemodynamic support. She had an abnormal electrocardiogram. She was diagnosed with severe coronary artery vasospasm that initially responded to intracoronary nitroglycerin. However, the course was complicated by arrhythmias and cardiogenic shock following an additional episode of vasospasm that required higher concentrations of nitroglycerin. Notably, this case is relatively less documented in women and within the South Bronx population. Refractory coronary artery spasm is a critical condition that can lead to life-threatening outcomes. Prompt and effective treatment is essential, especially for high-risk patients, to prevent cardiac ischemia. Given the significant dangers of delayed or insufficient treatment, it is crucial to manage coronary artery spasms proactively to enhance patient outcomes and avoid severe complications. In addition, this diagnosis should be strongly considered in women, with an emphasis on following guidelines for managing cases of acute myocardial infarction.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325426"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624965","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}