Case Reports in Medicine最新文献

{"title":"Case Report: Familial Cold Autoinflammatory Syndrome With Double Variant in <i>NLRP12</i> and <i>SETD1A</i>.","authors":"José Eduardo Ruíz-Santana, Oscar Aquino-Arango, María Fernanda Alvarado-Fernández, María Del Carmen Chima-Galán, Fernando Lozano-Patiño, María Eugenia Vargas-Camaño, María Isabel Castrejón-Vázquez","doi":"10.1155/carm/2545876","DOIUrl":"10.1155/carm/2545876","url":null,"abstract":"<p><p>The inflammasome is a protein complex involved in the activation of inflammatory responses through the production of proinflammatory cytokines and pyroptosis. <i>NLRP12</i> is a NOD-like receptor that regulates inflammation and inflammasome signaling. Mutations in the <i>NLRP12</i> gene can lead to familial cold autoinflammatory syndrome type 2 (FCAS2), an autosomal dominant disorder characterized by episodes of fever, urticaria, arthritis, and symptoms triggered by cold exposure. This work presents the case of a pediatric patient with a history of recurrent infections, allergies, and epileptic seizures associated with immunoglobulin administration. Exome sequencing identified two variants: one in the <i>SETD1A</i> gene, associated with neurodevelopmental disorders, and another in <i>NLRP12</i>, previously reported as benign. However, due to the clinical presentation compatible with FCAS2 and signs of immunodeficiency, it is suggested that the <i>NLRP12</i> variant might have an underestimated pathogenic role. This case highlights the need for further studies to better understand the clinical variability of autoinflammatory diseases and their relationship with genetic variants, as well as the importance of developing targeted treatments.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"2545876"},"PeriodicalIF":1.0,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13181424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147970757","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":"Acquired Amegakaryocytic Thrombocytopenia With Evolution Toward Aplastic Anemia Treated With Thrombopoietin Receptor Agonists: A Case Report.","authors":"Faramarz Jabbari-Zadeh, Mujtaba M Basharat, Benjamin Chin-Yee, Chai W Phua, Selay Lam, Anargyros Xenocostas, Eric To, Cyrus C Hsia","doi":"10.1155/carm/6274311","DOIUrl":"10.1155/carm/6274311","url":null,"abstract":"<p><p>Amegakaryocytic thrombocytopenia is a rare hematological disorder that is characterized by absent or near-absent megakaryocytes without evidence of other hematological abnormalities. The disease can either be congenital or acquired. Given that less than a hundred cases of acquired amegakaryocytic thrombocytopenia (AAMT) have been reported in the literature, its pathophysiology and treatment remain poorly understood. Various treatments have been proposed for AAMT, including glucocorticoids and other immunosuppressive agents, such as cyclosporine, antithymocyte globulin, and rituximab. To date, there are limited data on the role of thrombopoietin receptor agonists (TPO-RAs) for the treatment of AAMT. We present the case of a patient who initially presented with ecchymoses, purpura, and petechiae and was ultimately diagnosed with AAMT. He was treated with eltrombopag and had an increase in platelets with decreased bleeding after approximately 6 months of eltrombopag therapy. He did not experience any side effects from eltrombopag or require any platelet transfusions during follow-up. Treatment overlapped with cyclosporine and prednisone, but these were discontinued due to adverse effects. Our case demonstrates that TPO-RAs can be effective novel therapeutic agents and improve patient outcomes for this rare condition.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"6274311"},"PeriodicalIF":1.0,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13176935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147962226","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 Rare Case of Sterile Retrostyloid Abscess in a Patient With Crohn's Disease: Diagnostic and Therapeutic Insights.","authors":"Giorgio Babino, Vito Sala, Barbara Verro, Antonio Lo Casto, Carmelo Saraniti","doi":"10.1155/carm/8720602","DOIUrl":"10.1155/carm/8720602","url":null,"abstract":"<p><strong>Introduction: </strong>Aseptic abscess syndrome is a rare inflammatory disorder of unclear etiology, characterized by sterile lesions densely infiltrated by polymorphonuclear neutrophils. Its frequently associated with inflammatory bowel disease, which includes chronic gastrointestinal disorders such as Crohn's disease and ulcerative colitis, often accompanied by both intestinal and extraintestinal manifestations. Extraintestinal involvement may include musculoskeletal, cutaneous, ocular, oral, and hepatobiliary systems. Although uncommon, aseptic abscess syndrome can precede the onset of inflammatory bowel disease or occur during its course.</p><p><strong>Case report: </strong>A 44-year-old woman with Crohn's disease receiving corticosteroid therapy is presented with abdominal pain, diarrhea, rectal bleeding, and a painful right lateral cervical swelling with trismus. Contrast-enhanced computed tomography revealed a right retrostyloid abscess. Surgical drainage, combined with antibiotics and corticosteroids, led to clinical resolution. Cultures were negative, confirming the diagnosis of aseptic abscess.</p><p><strong>Conclusion: </strong>Retrostyloid abscesses are extremely rare and poorly documented. In patients with inflammatory bowel disease presenting with deep neck abscesses, aseptic abscess syndrome should be considered, as early recognition and multidisciplinary management are essential to prevent serious complications.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8720602"},"PeriodicalIF":1.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13176111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147962238","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":"Giant Cutaneous Horn of the Cheek: A Case Report.","authors":"Thuc Xuan Nguyen, Khoi Minh Khuat, Hai Thanh Pham","doi":"10.1155/carm/5977603","DOIUrl":"10.1155/carm/5977603","url":null,"abstract":"<p><p>A cutaneous horn is an uncommon lesion characterized by excessive keratinization, which protrudes above the skin surface and predominantly occurs on sun-exposed areas. Currently, the exact incidence and prevalence of this disease are not well-documented in the literature. An 83-year-old female patient presented with a cutaneous lesion in the left cheek for more than 15 years. Physical examination revealed the lesion size approximately accounted for 4 cm in length and 1.5 cm in diameter at the base, with a firm, nonerythematous, and painless swelling at its base. The lesion exhibited a distinctive appearance, resembling a large rooster's spur. Ultrasonographic record identified no definite evidence of deep subcutaneous invasion. To establish a definitive diagnosis, a preoperative biopsy was conducted, which histologically demonstrated a combination of squamous epithelial cells and keratinized debris. Treatment involved local anesthesia and surgical excision therapy. Postoperative management included the administration of antibiotics, NSAIDs for pain relief, and anti-inflammatory medications. The wound demonstrated favorable healing progress by the first postoperative day. The effective management of cutaneous horn necessitates a comprehensive approach involving precise diagnostic evaluation, proficient surgical excision, and diligent postoperative follow-up. This case study enhances the current understanding of this uncommon condition and underscores its implications for improving clinical outcomes and patient care.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"5977603"},"PeriodicalIF":1.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13176616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147962366","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":"Nine-Year Recurrence-Free Survival in Gastric Signet-Ring Cell Carcinoma: A Case Report of Laparoscopic Radical Resection Combining Long-Term Systematic Therapy and Metformin Enteric-Coated Tablets.","authors":"Lingzhi Liao, Guogui Wang, Yifan Li, Dan Zou, Jing Liu, Bin Ma, Jingwei Ma, Yali Li, Yile Qi, Jiahui Ma, Hao Chen","doi":"10.1155/carm/6766219","DOIUrl":"10.1155/carm/6766219","url":null,"abstract":"<p><p>Gastric signet-ring cell carcinoma (GSRCC) represents 10%-14% of all gastric malignancies. The overall prognosis for GSRCC is poorer compared to other types of gastric cancer, as it is characterized by a high degree of malignancy, rapid progression, and early metastasis (particularly peritoneal metastasis). Current therapies combining surgery and chemotherapy are challenged by tumor invasiveness, drug resistance, and limited targeted options. Herein, we present the case of a 60-year-old male diagnosed with GSRCC who underwent laparoscopic distal radical gastrectomy with D2 lymphadenectomy. Postoperative histopathological analysis confirmed a mixed tumor composition comprising 60% GSRCC and 40% moderately differentiated adenocarcinoma. Following surgery, the patient was administered adjuvant therapy with oxaliplatin and S-1 and metformin enteric-coated tablets for 6 months, followed by 42-month maintenance therapy regimen combining oral S-1 and apatinib and metformin enteric-coated tablets. Over 9 years of follow-up, the patient demonstrated sustained recurrence-free survival (RFS) and achieved clinical recovery. This case underscores the potential of individualized adjuvant therapy in addressing the aggressive biological characteristics of GSRCC and offers a valuable reference for strategies to minimize recurrence in GSRCC patients. Trial Registration: ClinicalTrials.gov identifier NCT01101438.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"6766219"},"PeriodicalIF":1.0,"publicationDate":"2026-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13168931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147939551","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":"Ocular Immersion Hydrotherapy Effectively Alleviate Symptoms and Signs of Severe Dry Eye Secondary to Ocular Graft-Versus-Host Disease in a Short Term.","authors":"Haoran Cui, Shuang Zhang, Tao Zhang, Yong Tao","doi":"10.1155/carm/8444085","DOIUrl":"10.1155/carm/8444085","url":null,"abstract":"<p><strong>Purpose: </strong>To report a novel ocular immersion hydrotherapy (OIH) to manage patients with severe dry eye secondary to ocular graft-versus-host disease (oGVHD) and clinical outcomes after treatment.</p><p><strong>Methods: </strong>This case series included five consecutive patients with severe oGVHD-related dry eye who had previously undergone unsuccessful long-term conventional treatments. All five patients received an OIH treatment for a week. Visual acuity, Schirmer's test (ST) without anesthesia, slit-lamp examination, fluorescein corneal staining, and in vivo confocal microscopy were recorded before and after treatment. The corneal fluorescein staining was evaluated using the National Eye Institute (NEI) scale. The Ocular Surface Disease Index (OSDI) score was utilized to assess the severity of symptoms. Concentrations of IL-2 and IL-6 in tear fluid were quantified in another group of patients with oGVHD and dry eye disease (DED) at baseline, immediately following artificial tear instillation, and at 30 and 60 min postapplication.</p><p><strong>Findings: </strong>Following the OIH treatment in a short term, all patients exhibited significant improvement in both symptoms and signs, as evidenced by a substantial reduction in OSDI scores compared to pretreatment levels and a significant decrease in corneal fluorescein staining scores. In vivo confocal microscopy also indicated a reduction in inflammation. The concentrations of IL-2 and IL-6 in the tears of oGVHD patients are significantly higher than those in DED patients. Although artificial tear application transiently reduces the levels of both cytokines, they rebound to near-baseline values within approximately 1 hour.</p><p><strong>Implications: </strong>Conventional treatments are often inadequate for managing severe and refractory dry eye secondary to oGVHD, leaving patients to suffer from severe symptoms. The novel OIH treatment approach presented in this study significantly promotes corneal epithelial healing, alleviates symptoms, and improves clinical signs, demonstrating good tolerability in a short term. Further long-term studies with more patients are demanded.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8444085"},"PeriodicalIF":1.0,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13157325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866933","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":"Splenic, Nonhairy, B-Cell Lymphoma Presenting as Fever of Unknown Origin.","authors":"Abdul Rehman, John E McKnight, Hafiz Javed, Arfa Ahmad, Patrick O'Reilly","doi":"10.1155/carm/4919763","DOIUrl":"10.1155/carm/4919763","url":null,"abstract":"<p><p>Fever of unknown origin (FUO) is a common diagnostic dilemma faced by internists on a fairly regular basis. A wide variety of infectious, autoimmune, and neoplastic conditions can present with FUO. Splenic B-cell lymphoma/leukemia with prominent nucleolus (SBLPN), formerly known as hairy cell leukemia-variant, is a hematologic malignancy that often presents with massive splenomegaly and pancytopenia. Initial presentation of SBLPN as FUO is exceedingly rare. Here, we present the case of an elderly gentleman in his 80s who presented with fever, night sweats, weight loss, and recurrent falls. He was subsequently diagnosed with SBLPN after 6 weeks of extensive diagnostic evaluation. The practicing internist needs to be aware of this initial presentation of SBLPN as FUO and have a low suspicion to proceed with a bone marrow aspiration and biopsy to clench the diagnosis in the right clinical context.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"4919763"},"PeriodicalIF":1.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13156235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866893","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 of Neoadjuvant Chemotherapy for Locally Advanced Inflammatory Breast Cancer With Low-Level ER Expression.","authors":"Qinwen Qin, Wenjun Jia","doi":"10.1155/carm/6681740","DOIUrl":"10.1155/carm/6681740","url":null,"abstract":"<p><p>Inflammatory breast cancer (IBC) is a rare presentation of breast carcinoma characterized by tumor cell emboli invading the dermal lymphatics and manifesting as skin edema and redness. In this study, we report a case of locally advanced IBC with neoadjuvant chemotherapy. After the diagnosis of locally advanced IBC, this patient received a series of neoadjuvant chemotherapy treatment through the multidisciplinary team discussion, and thereafter, a modified radical mastectomy for left breast cancer and a split-thickness skin graft were subsequently completed for this patient. Postoperative pathology revealed she achieved a pathological complete response (pCR). Following the recommendations of a further multidisciplinary team discussion, the patient continued on radiotherapy, a short course of endocrine therapy, and intensive therapy with capecitabine. During the 2-year follow-up period following the operation, the patient showed no signs of relapse or progression. The coordination of different disciplines is of paramount importance in ensuring the optimal treatment of locally advanced IBC patients, thereby facilitating a more favorable prognosis.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"6681740"},"PeriodicalIF":1.0,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866901","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":"Early-Onset Posterior Reversible Encephalopathy Syndrome at Reduced-Dose Sunitinib in Metastatic Papillary Renal Cell Carcinoma: A Case Report.","authors":"Ferit Aslan, Burcu Erkılıç, Elif Günaydın, Onur Serdar Gençler, Hakan Taban","doi":"10.1155/carm/7058556","DOIUrl":"10.1155/carm/7058556","url":null,"abstract":"<p><p>Posterior reversible encephalopathy syndrome (PRES) is a rare but potentially life-threatening neurological complication associated with vascular endothelial growth factor (VEGF)-targeted tyrosine kinase inhibitors. Although it is typically reported after prolonged exposure and at standard or high doses, early onset at reduced dosing may occur and requires prompt recognition. We report a 64-year-old woman with metastatic papillary renal cell carcinoma who developed PRES after two months of treatment with reduced-dose sunitinib (37.5 mg daily). She presented with severe headache, nausea, vomiting, impaired consciousness, and reduced mobility, accompanied by acute hypertension (170/100 mmHg). Brain magnetic resonance imaging demonstrated bilateral vasogenic edema without diffusion restriction, consistent with PRES, and electroencephalography revealed generalized background slowing indicative of encephalopathy. Sunitinib was immediately discontinued, and the patient was treated with corticosteroids, antiepileptic therapy, and antihypertensive agents, resulting in rapid clinical improvement. Follow-up imaging confirmed complete radiological resolution. Subsequent treatment with nivolumab and axitinib achieved limited disease control, and the overall survival was 11 months. This case highlights that PRES can develop early and at reduced doses of sunitinib, may present with severe neurological impairment, and can be supported by electroencephalographic findings. Early recognition and prompt discontinuation of the offending agent are essential to prevent irreversible neurological damage.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"7058556"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13138246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834109","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":"Effectiveness of Virtual Reality-Based Physiotherapy Interventions on Pain, Range of Motion, and Gait Function in a Juvenile Hip Arthritis Patient: A Case Report.","authors":"Satheeskumar Durairaj, Sukumar Shanmugam","doi":"10.1155/carm/5573621","DOIUrl":"10.1155/carm/5573621","url":null,"abstract":"<p><p>Gamification has shown promising results in pediatric rehabilitation, but there is a lack of research specifically investigating its effects on hip juvenile idiopathic arthritis (JIA) in children. This case study aimed to explore the impact of gamification-based rehabilitation combined with conventional physiotherapy on lower limb function and walking activities in a child with hip JIA. An 11-year-old female was diagnosed with hip JIA and presented with hip joint pain and difficulty in standing and walking. She underwent a 6-month intensive conventional physiotherapy program combined with virtual reality (VR)-based gamification using the Walker View treadmill system and D-Wall digital mirror device. Each treatment session lasted 60 min and was conducted 5 times a week for 6 months. The visual analog scale (VAS), goniometry, Walker View treadmill system score, and Hip Disability and Osteoarthritis Outcome Score (HOOS-12) outcome measures were used during pretest, posttest, and follow-up assessments at 0, 6, 9, and 12 months. The combined approach of VR-based gamification and conventional physiotherapy led to significant improvements in pain, functional range of hip joint movements, and gait in this JIA patient. She also showed significant progress across all outcome measures at different timelines. This case report concludes that combining VR-based gamification with conventional physiotherapy is effective in improving hip joint function and mobility in children with hip JIA. It is recommended to combine VR-based gamification with conventional physiotherapy to enhance lower limb function and walking activities in JIA patients, and more future studies are needed to generalize this effect.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"5573621"},"PeriodicalIF":1.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13130343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147811502","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}