Journal of investigative medicine high impact case reports最新文献

{"title":"Macrophage Activation Syndrome-Associated Hemophagocytic Lymphohistiocytosis Triggered by Myasthenia Gravis: A Rare Hyperinflammatory Complication in a Young Adult.","authors":"Victor M Samperio, Hiba Zahidi, Anthony Lim, Henry T Tsai","doi":"10.1177/23247096261435470","DOIUrl":"10.1177/23247096261435470","url":null,"abstract":"<p><p>Macrophage activation syndrome-associated hemophagocytic lymphohistiocytosis (MAS-HLH) is a rare adult hyperinflammatory syndrome, and its occurrence in myasthenia gravis (MG) is exceptionally uncommon. We describe a 25-year-old woman with acetylcholine receptor antibody-positive MG and antiphospholipid antibody positivity who presented with acute hypoxic respiratory failure, encephalopathy, and polyserositis. Despite antimicrobials and MG-directed therapy, she developed persistent fevers, leukocytosis, and worsening neurologic dysfunction. Laboratory evaluation revealed ferritin >7500 ng/mL, fibrinogen of 151 mg/dL, triglycerides of 339 mg/dL, and soluble interleukin-2 (IL-2) receptor of 5551 pg/mL, yielding an <i>H</i>Score of 238 and a >90% predicted probability of HLH. Bone marrow biopsy demonstrated very rare hemophagocytic histiocytes. Extensive infectious, autoimmune, and paraneoplastic evaluation including cerebrospinal fluid cytology, flow cytometry, multiplex meningoencephalitis polymerase chain reaction, and brain magnetic resonance imaging was unrevealing, supporting a diagnosis of secondary MAS-HLH triggered by MG-associated immune dysregulation. Given progressive hyperinflammation and concern for central nervous system (CNS) involvement, the patient received high-dose corticosteroids followed by etoposide, resulting in rapid clinical improvement, declining ferritin, and normalization of IL-2 receptor. She subsequently completed 4 weekly postdischarge etoposide doses with sustained remission. This case underscores the importance of considering HLH in disorders of autoimmunity and immune dysregulation like MG, in patients who develop disproportionate systemic inflammation or neurologic decline and highlights the critical role of early recognition, multidisciplinary evaluation, and timely cytokine-directed immunosuppression in improving outcomes in adult MAS-HLH.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261435470"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13039560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581540","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":"Amelanotic Gastric Metastases From Melanoma Presenting as Gastrointestinal Bleeding Shortly After Diagnosis: A Case Report.","authors":"Yagnapriya Chirrareddy, Ritwik Dey, Virali Gulla, Manas Pustake, Shivangini Duggal, Soumya Jaladi, Jesus A Gomez","doi":"10.1177/23247096261465530","DOIUrl":"10.1177/23247096261465530","url":null,"abstract":"<p><p>Melanoma is an aggressive malignancy with a high propensity for metastasis; however, clinically apparent involvement of the gastrointestinal tract is uncommon. We report a case of metastatic melanoma involving the stomach that presented as gastrointestinal bleeding shortly after initial diagnosis. A patient with recently diagnosed melanoma with nodal metastasis presented with melena and symptomatic anemia. Esophagogastroduodenoscopy revealed multiple gastric mucosal lesions that were notably amelanotic, lacking the characteristic pigmentation typically associated with melanoma. Histopathological and immunohistochemical evaluation confirmed metastatic melanoma, and imaging findings were concerning for advanced disease. The presence of pneumatosis raised suspicion for mucosal compromise and possible early perforation, highlighting the potential severity of gastrointestinal involvement. Gastrointestinal metastases from melanoma are often clinically silent and may present with nonspecific symptoms, leading to delayed diagnosis. This case is notable for early symptomatic presentation and the presence of amelanotic lesions, which may be easily overlooked during endoscopic evaluation. The absence of pigmentation can pose a diagnostic challenge and requires a high index of suspicion in patients with a history of melanoma. Early endoscopic evaluation and tissue diagnosis are essential for timely recognition and management. Clinicians should maintain a high index of suspicion for gastrointestinal metastases in melanoma patients presenting with unexplained anemia or bleeding, even in the absence of classic endoscopic features.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261465530"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13319563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148345606","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":"Serious Concern Regarding Omission of Local Control in a Large Sacral Metastasis.","authors":"Audai Abudayeh, Iakiv Fishchenko","doi":"10.1177/23247096261454352","DOIUrl":"10.1177/23247096261454352","url":null,"abstract":"","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261454352"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13187377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972997","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":"Azathioprine-Induced Pancreatitis in a Patient With Autoimmune Hepatitis: A Case Report.","authors":"Oikigbeme Oikeh, Aparna Abhirami Rathnam, Jazmin Mexia Cabrales, Mohamed Abdelghffar","doi":"10.1177/23247096261455475","DOIUrl":"10.1177/23247096261455475","url":null,"abstract":"<p><p>A 67-year-old woman with biopsy-proven autoimmune hepatitis (AIH) developed acute pancreatitis shortly after starting azathioprine (AZA) and budesonide. She presented with abdominal pain, fever, and elevated lipase levels. Imaging confirmed acute interstitial edematous pancreatitis, and common etiologies-including gallstones, alcohol use, and hypertriglyceridemia-were ruled out. AZA was identified as the likely cause and was discontinued, resulting in full clinical recovery with supportive care. The patient was subsequently transitioned to mycophenolate mofetil (MMF) for continued immunosuppression. This case highlights the importance of early recognition of azathioprine-induced pancreatitis (AIP), particularly within the first few weeks of therapy. It also demonstrates the utility of MMF as a viable second-line agent in AZA-intolerant patients with AIH.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261455475"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13247277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148204947","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":"Paraparesis, Urinary Dysfunction, and Acute, Therapy-Resistant Heart Failure in a Previously Healthy Patient Should Not Remain Unexplained.","authors":"Josef Finsterer, Sounira Mehri","doi":"10.1177/23247096261478916","DOIUrl":"10.1177/23247096261478916","url":null,"abstract":"","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261478916"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13452921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148697631","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":"Acute Colonic Pseudo-obstruction Following Massive Bupropion Overdose.","authors":"Merrick Johnson, Jena Gales, Kyle Gronbeck, Dre Steinwehr","doi":"10.1177/23247096261479684","DOIUrl":"https://doi.org/10.1177/23247096261479684","url":null,"abstract":"<p><p>Bupropion is an atypical antidepressant that inhibits norepinephrine and dopamine reuptake. Poison control data demonstrate toxic effects at doses as low as 600 mg. Common adverse effects of overdose include tachycardia, seizures, and cardiac arrhythmias. Gastrointestinal complications are rarely described. Our case shows an 18-year-old male presented to the emergency department after witnessed seizure-like activity. Family reported ingestion of approximately thirty 300-mg sustained-release bupropion tablets 4-5 hours prior to presentation. On arrival, he required endotracheal intubation for airway protection. Sedation was initiated with propofol and fentanyl; fentanyl was rapidly discontinued. Given delayed presentation and sustained-release ingestion, whole bowel irrigation was initiated with nasogastric administration of 50 g activated charcoal followed by 6 L polyethylene glycol-electrolyte solution. Subcutaneous methylnaltrexone (12 mg) was administered to reverse potential opioid-related ileus without effect. Worsening abdominal distension prompted contrast-enhanced computed tomography of the abdomen and pelvis, which demonstrated diffuse fluid-filled colonic distension with distal small bowel dilation and no evidence of mechanical obstruction or pill bezoar. Gastroenterology performed colonoscopic decompression with rectal tube placement. This resulted in successful decompression. The patient was extubated the following day with return of bowel function on post-decompression day two. In supratherapeutic states, bupropion exhibits anticholinergic properties through poorly understood mechanisms, which may impair intestinal motility. Colonic complications remain rare, with only isolated reports describing colonic ischemia or pseudo-obstruction associated with bupropion toxicity. Clinicians should consider severe gastrointestinal dysmotility when managing sustained-release bupropion toxicity.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261479684"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13487054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148794142","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":"Occult Breast Carcinoma Presenting with Extensive Bone Involvement in the Absence of an Identifiable Primary Breast Lesion: A Case Report.","authors":"Shengmin Huang, Amulya Bellamkonda, M Rashid Chaudhry, Richard Wu, Jen C Wang","doi":"10.1177/23247096261481669","DOIUrl":"10.1177/23247096261481669","url":null,"abstract":"<p><p>Occult breast cancer (OBC) is a rare and diagnostically challenging subtype of breast carcinoma characterized by axillary or distant metastases without an identifiable primary breast lesion. We report an unusual presentation of OBC in a patient with diffuse osteolytic bone metastases and axillary lymphadenopathy in the absence of clinically palpable, mammographically, or sonographically detectable breast lesions. The diagnosis was established through bone marrow biopsy and immunohistochemical analysis. Review of the literature identified only four previously reported cases of OBC initially presenting with diffuse osseous metastases, three of which were hormone receptor-positive. This case highlights the importance of maintaining a high index of suspicion for OBC in patients with metastatic adenocarcinoma of unknown primary origin with diffuse skeletal involvement. Furthermore, it underscores the distinct biologic behavior of hormone receptor-positive breast cancer, which preferentially metastasizes to bone and may achieve durable disease control with endocrine-based therapy, allowing selected patients to avoid cytotoxic chemotherapy.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261481669"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13504110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808714","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":"Musculoskeletal Tuberculous Arthritis Mimicking Septic Arthritis.","authors":"Aparna Abhirami Rathnam, Harleen Sidhu, Thanushiree Sivalingam, Tanuja Arina Prakash, Julie Kanevsky","doi":"10.1177/23247096261475077","DOIUrl":"10.1177/23247096261475077","url":null,"abstract":"<p><p>A young woman presented with left hip pain for one week. She had been admitted to another hospital one month prior for right ankle pain and was undergoing treatment for septic arthritis with home IV antibiotics. Imaging of the left hip <b>and right ankle</b> was consistent with septic arthritis, but washout of the left hip and right ankle yielded negative gram stain and bacterial cultures. <b>Due to persistent</b> fevers, <b>further imaging</b> revealed miliary tuberculosis, and AFB testing of the washout fluid <b>from the right ankle</b> eventually resulted positive for Mycobacterium tuberculosis. <b>The patient was placed on airborne isolation and started on Rifampin, Isoniazid, Pyrazinamide and Ethambutol for a duration of one year.</b></p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261475077"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148669159","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":"Stanford Type B Aortic Dissection in an Adult Patient With Unrepaired Coarctation of the Aorta.","authors":"Priya Ramcharan, Arun Katwaroo, Matthew Maharaj, Valmiki Seecheran, Nicholas Pereira, Adrian Chan, Rajeev Seecheran, Neal Bhagwandass, Naveen Seecheran","doi":"10.1177/23247096261416280","DOIUrl":"10.1177/23247096261416280","url":null,"abstract":"<p><p>Coarctation of the aorta (CoA) is a congenital narrowing typically detected in childhood; survival into adulthood without repair is uncommon. Aortic dissection (AD) is an exceedingly rare complication in this specific context, particularly involving the descending aorta. We describe a case of a 46-year-old Caribbean-Black male with a medical history of chronic hypertension (HTN) who presented with unstable angina and hypertensive crisis. Emergent computed tomography angiography revealed critical proximal descending CoA with poststenotic dilatation and an acute Stanford type B AD. He was initially stabilized on guideline-directed medical therapy, and while definitive surgical repair was recommended, the patient declined. This exceedingly rare case of type B AD complicating unrepaired CoA underscores the importance of recognizing congenital aortic disease as a cause of refractory HTN in adults. Additionally, it highlights the need for continued vigilance for long-term complications in adults with congenital heart disease.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261416280"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12852590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146064220","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":"Peritoneal Tuberculosis Complicated by Abdominal Abscesses: Diagnostic Challenges and Clinical Insights From Two Cases.","authors":"Sarra Ben Azouz, Myriam Ayari, Rim Bouyahia, Sarra Ben Rejeb, Amira Chehaider, Mahdi Charfi, Taieb Jomni","doi":"10.1177/23247096261465615","DOIUrl":"10.1177/23247096261465615","url":null,"abstract":"<p><p>Peritoneal tuberculosis (PT) is a rare form of extrapulmonary Mycobacterium tuberculosis infection that may closely mimic Crohn's disease (CD) or intra-abdominal malignancy, leading to diagnostic delay, particularly in endemic areas. We report two illustrative cases complicated by localized abscess formation. The first case involved a 40-year-old woman presenting with chronic right lumbar pain. Computed tomography (CT) revealed a large right psoas abscess associated with circumferential thickening of the cecal base and terminal ileum, along with necrotic mesenteric and iliac lymphadenopathy. Colonoscopy showed ulcerative ileocolitis, and histology demonstrated chronic granulomatous inflammation suggestive of either tuberculosis or CD. CT-guided biopsy of the abscess wall was performed, and polymerase chain reaction testing for Mycobacterium tuberculosis was positive. Histopathology examination was consistent with tuberculosis. The patient responded well to anti-tuberculous therapy with complete radiological resolution. The second case concerned a 17-year-old male admitted with right iliac fossa pain, fever, weight loss, and night sweats. CT showed a right pelvic collection adjacent to the ileocecal junction with distal ileal and cecal thickening, initially suggesting CD. Colonoscopy revealed ulcerative ileitis with granulomatous inflammation. As radiological drainage was not feasible, laparoscopy was performed and showed a friable micronodular peritoneum with terminal ileitis. Peritoneal biopsies demonstrated non caseating granulomatous inflammation, consistent with peritoneal and ileocecal tuberculosis. These cases highlight that PT may present as localized abdominal or psoas abscesses and closely mimics CD. Early integration of imaging, endoscopy, tissue sampling, and microbiological or molecular testing is essential for prompt diagnosis and appropriate curative treatment.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261465615"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13329056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148368676","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}