Journal of investigative medicine high impact case reports最新文献

{"title":"Nodal Mature Plasmacytoid Dendritic Cell Proliferation in a Patient With Chronic Myelomonocytic Leukemia: A Diagnostic Mimic of Blastic Plasmacytoid Dendritic Cell Neoplasm.","authors":"Jowan Al-Nusair, Nathaniel Porter, Zakaria Alagha, Vincent Graffeo, Waqas Mahmud, Mohamed Alshal","doi":"10.1177/23247096251344723","DOIUrl":"10.1177/23247096251344723","url":null,"abstract":"<p><p>Mature plasmacytoid dendritic cell proliferation (MPDCP) is a rare, clonal but nonmalignant entity often associated with myeloid neoplasms such as chronic myelomonocytic leukemia (CMML), myelodysplastic syndromes, and acute myeloid leukemia. While typically confined to the bone marrow, nodal MPDCP is exceedingly rare and may mimic blastic plasmacytoid dendritic cell neoplasm (BPDCN), posing diagnostic challenges. We report a 78-year-old male with CMML-1 and progressive cervical lymphadenopathy. Workup revealed monocytosis, ASXL1 and CBL mutations, and CMML. Lymph node biopsy showed paracortical expansion by small mononuclear cells with plasmacytoid features. Immunophenotyping identified a CD4+, CD123+, CD303+, HLA-DR+, lysozyme+, CD56- population, consistent with MPDCP. A subset expressed TdT and granzyme B, with a Ki-67 index of 20% to 30%. Next-generation sequencing confirmed the same ASXL1 and CBL mutations in the lymph node, supporting clonal relation to CMML. Key differential diagnoses included BPDCN, T-cell lymphomas, Langerhans cell histiocytosis, and Kikuchi-Fujimoto disease. Absence of CD56, mature cytomorphology, and molecular concordance favored MPDCP. This case highlights the importance of distinguishing nodal MPDCP from malignant mimics. MPDCP may reflect immune evasion, altered cytokine signaling, or clonal progression in myeloid neoplasms. The patient was initially treated with hydroxyurea, later transitioned to decitabine/cedazuridine (Inqovi) for disease progression. Follow-up marrow biopsy showed stable CMML-2 with persistent mutations, and the patient remains under close monitoring. Recognizing MPDCP in unusual locations is critical for accurate diagnosis and prognostication. Further studies are warranted to clarify its molecular pathogenesis and potential as a biomarker of disease evolution in CMML and related disorders.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251344723"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142723","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 Case Report and Literature Review on Systemic Sclerosis Manifesting as Melena and Hematochezia.","authors":"Anthony El Gharib, Léa Nassif, Karam Karam, Elias Fiani","doi":"10.1177/23247096251348903","DOIUrl":"10.1177/23247096251348903","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a rare autoimmune disorder that leads to progressive fibrosis and vascular dysfunction, frequently affecting the gastrointestinal tract with around 90% of patients experiencing gastrointestinal complications, with severe manifestations such as gastric antral vascular ectasia and rectal telangiectasia which lead to chronic bleeding and iron-deficiency anemia. This review and case report explore the pathophysiology of GI involvement in SSc, emphasizing fibrosis, microvascular damage, and dysmotility. It also highlights treatment options, including endoscopic interventions like argon plasma coagulation and pharmacological therapies.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251348903"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12179478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325986","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":"Pseudomembranous Colitis: Unveiling an Infrequent Culprit Beyond <i>Clostridium difficile</i>-A Case Report.","authors":"Manasa Ginjupalli, Jayalekshmi Jayakumar, Praneeth Bandaru, Vikash Kumar, Arnold Forlemu, Giovannie Isaac Coss, Denzil Etienne, Madhavi Reddy","doi":"10.1177/23247096251347401","DOIUrl":"10.1177/23247096251347401","url":null,"abstract":"<p><p>Immunotherapy-induced pseudomembranous colitis (PMC) is an uncommon but increasingly recognized adverse effect of immune checkpoint inhibitors, particularly in patients with advanced malignancies. We present a case of a 68-year-old male with gastric adenocarcinoma undergoing treatment with immunotherapy and chemotherapy, who developed symptoms of PMC. Workup for <i>Clostridium difficile</i> and other common etiologies was negative. Colonoscopy revealed severe mucosal congestion and yellowish-green exudates, consistent with PMC. Based on the biopsy results and clinical presentation, after excluding common etiologies, immunotherapy-induced PMC was suspected. The patient responded to steroid therapy, with gradual improvement and a tapering regimen upon discharge. This case underscores the diagnostic challenges in identifying the etiology of PMC, particularly when it presents with diffuse involvement of the colon, which is an uncommon presentation for immunotherapy-related colitis. The overlap in clinical, endoscopic, and histopathological findings with other forms of colitis, such as Clostridium difficile infection (CDI) and inflammatory bowel disease, highlights the need for heightened awareness among clinicians. This case highlights the diagnostic challenges in recognizing immunotherapy-induced PMC, particularly with atypical, diffuse colonic involvement. The overlapping features with other colitis make timely diagnosis difficult. Further research is needed to refine diagnostic criteria and management strategies for immunotherapy induced colitis (IMC).</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251347401"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317123","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":"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":"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":"A Flea-Borne Mystery: Unraveling Murine Typhus in a Patient with Unexplained Encephalopathy.","authors":"Jose Loayza Pintado, Jorge Aboytes, Cesar Uribe","doi":"10.1177/23247096251345086","DOIUrl":"10.1177/23247096251345086","url":null,"abstract":"<p><p>Murine typhus is a flea-borne rickettsial infection caused by <i>Rickettsia typhi</i>, commonly seen in endemic regions like Southern California and Texas. While it typically presents with fever, rash, and headache, neurological symptoms such as altered mental status are rare. We present a case of a 66-year-old male in southern Texas with alcohol use disorder who developed progressive confusion, decreased appetite, and subjective fevers. He was found to have severe hyponatremia, acute kidney injury, and atrial fibrillation with rapid ventricular response. Despite supportive care and empiric antibiotics for a urinary tract infection, his encephalopathy persisted. Further history revealed exposure to flea-infested cats, prompting rickettsial testing and empiric doxycycline. Typhus immunoglobulin M antibodies later confirmed the diagnosis, and the patient showed marked improvement with doxycycline therapy. Murine typhus with altered mental status is a rare presentation, often leading to diagnostic delays. This case occurred in an endemic region, with exposure to flea-infested cats as a significant risk factor. The patient's persistent encephalopathy prompted a broad workup, including rickettsial testing, which was confirmed on serology testing. Early doxycycline initiation led to symptom resolution. This case highlights a rare neurological presentation of murine typhus and emphasizes the importance of considering it in patients with unexplained encephalopathy in endemic areas.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251345086"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191899","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":"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":"Lofgren's Syndrome: A Unique Presentation of Sarcoidosis Masquerading as Lower Extremity Cellulitis.","authors":"Ritwik Dey, Lakshmi Kattamuri, Yagnapriya Chirrareddy, Eder Luna Ceron, Kunal Sharma, Osvaldo Padilla, Abhizith Deoker","doi":"10.1177/23247096251352366","DOIUrl":"10.1177/23247096251352366","url":null,"abstract":"<p><p>Löfgren's syndrome is an acute, self-limiting variant of sarcoidosis, typically presenting with erythema nodosum, bilateral hilar lymphadenopathy, and acute arthritis or periarthritis-most commonly involving the ankles. Its clinical overlap with other inflammatory conditions can pose a diagnostic challenge. We describe a 34-year-old male with no prior medical history who presented with bilateral ankle and foot pain, erythema, and swelling, initially diagnosed as cellulitis based on imaging findings. He has no response to broad-spectrum antibiotics. During his further hospital stay, he developed polyarthritis. Laboratory evaluation revealed neutrophilic leukocytosis, elevated inflammatory markers, and a normal serum angiotensin-converting enzyme level. Imaging showed bilateral hilar lymphadenopathy and intra-abdominal adenopathy. Bronchoscopy with bronchoalveolar lavage revealed an elevated CD4:CD8 ratio (5.0), and endobronchial ultrasound-guided transbronchial needle aspiration confirmed noncaseating granulomas. Infectious, autoimmune, and malignant causes were excluded. Based on clinical features and histology, a diagnosis of Löfgren's syndrome was established. Nonsteroidal anti-inflammatory drug therapy led to rapid clinical improvement, and antibiotics were discontinued. Löfgren's syndrome should be considered in patients presenting with bilateral lower extremity erythema and swelling unresponsive to antibiotics, especially when accompanied by systemic symptoms. Early thoracic imaging and consideration of sarcoidosis in the differential diagnosis can prevent misdiagnosis and unnecessary treatment.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251352366"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497336","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}