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Autoimmune enteropathy in an infant, a rare entity possibly triggered in utero. 婴儿自身免疫性肠病，一种罕见的可能在子宫内引发的疾病。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf186
Sava Grujic, George Gershman
{"title":"Autoimmune enteropathy in an infant, a rare entity possibly triggered in utero.","authors":"Sava Grujic, George Gershman","doi":"10.1093/omcr/omaf186","DOIUrl":"10.1093/omcr/omaf186","url":null,"abstract":"<p><p>Autoimmune enteropathy is a rare immune mediated disorder with incidence of less than 1 in 100 000 that primarily involves infants and children. It characterized by severe and protracted diarrhea, weight loss and immune-mediated damage to the intestinal mucosa. We report a case of previously healthy infant that developed acute diarrhea at 7 weeks with a large volume of watery stool. A trial with amino acids-based formula was unsuccessful. Biopsies taken during esophagogastroduodenoscopy and ileo-colonoscopy performed at 8 weeks were consistent with autoimmune enteropathy. Treatment with intravenous steroid and Sirolimus was initiated with an excellent response. At 16-week follow-up the child was doing well without need for immunosuppression. Neonatal immune system is naïve with scant plasma cells normally found at this age. Considering the presence of numerous of plasma cells in the biopsy material, both IgM and IgG class, we postulate that this process was possibly triggered in utero.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf186"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193517","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}
引用次数: 0
Cauda equina neuroendocrine tumour of the filum terminale: a rare cause of persistent sciatica. 马尾神经内分泌肿瘤的终末丝：一个罕见的原因持续坐骨神经痛。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf179
Theoklis Kouyialis, David Halliday, Christophoros Christophorou, Christina Oxinou
{"title":"Cauda equina neuroendocrine tumour of the filum terminale: a rare cause of persistent sciatica.","authors":"Theoklis Kouyialis, David Halliday, Christophoros Christophorou, Christina Oxinou","doi":"10.1093/omcr/omaf179","DOIUrl":"10.1093/omcr/omaf179","url":null,"abstract":"<p><p>Cauda equina neuroendocrine tumours (CENETs), previously known as spinal paragangliomas (PGLs), are an extremely rare subset of spinal tumours that involve the cauda equina and filum terminale. They are classified as WHO Grade 1 and, thus, are largely benign. Their rarity, along with the overlap of their symptoms with more common spinal pathologies, leads to their frequent misdiagnosis. We present the case of a man in his mid-50s with a history of LBP exacerbated at night and right-sided sciatica with an L4 radicular distribution. He was referred to our team after being misdiagnosed and treated for lumbar disc herniation. A contrast-enhanced MRI revealed the presence of a large intradural lesion at the level of L4, treated by gross total resection (GTR) and later identified as a CENET. This case aims to enhance clinicians' understanding of CENETs, thereby preventing future misdiagnoses and improving patient outcomes.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf179"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193575","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}
引用次数: 0
Rectal large cell neuroendocrine carcinoma. 直肠大细胞神经内分泌癌。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf185
Panagiotis Alexandros Drakos, Antonia A Prountzopoulou, Efrossini Totskas, Konstantinos Stamou
{"title":"Rectal large cell neuroendocrine carcinoma.","authors":"Panagiotis Alexandros Drakos, Antonia A Prountzopoulou, Efrossini Totskas, Konstantinos Stamou","doi":"10.1093/omcr/omaf185","DOIUrl":"10.1093/omcr/omaf185","url":null,"abstract":"<p><p>Rectal large cell neuroendocrine carcinoma (LCNEC) is an exceedingly rare and aggressive neoplasm with a poor prognosis and median survival of 4-16 months. Diagnosis is challenging due to the clinical overlap with classical colorectal adenocarcinoma, and accurate diagnosis is reliant on histological examination via immunohistochemistry (IHC). For the diagnosis of LCNEC, neuroendocrine markers such as Synaptophysin, CD56, chromogranin A and Ki-67 are major determinants of the disease. We present a double case report of two individuals initially assumed diagnosed as rectal adenocarcinoma who were then re-diagnosed with rectal LCNEC via post-surgical IHC. Both patients received neo-adjuvant chemotherapy yet still developed metastatic disease. This report intends to appraise the role of routine early IHC as a critical tool for diagnosis and to guide management planning. Given the rarity and volatility of rectal LCNEC, further research is desperately needed to develop tailored treatment measures and improve patient outcomes.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf185"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193492","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}
引用次数: 0
Uncommon alliance between MOGAD and Behçet's disease. MOGAD与behet病罕见联合。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf165
Asmae Sikkal, Maha Abdallaoui, Salma Bellakhdar, Hajar Khattab, Kamal Haddouali, Bouchra E L Moutawakil, Mohammed Abdoh Rafai, Hicham E L Otmani
{"title":"Uncommon alliance between MOGAD and Behçet's disease.","authors":"Asmae Sikkal, Maha Abdallaoui, Salma Bellakhdar, Hajar Khattab, Kamal Haddouali, Bouchra E L Moutawakil, Mohammed Abdoh Rafai, Hicham E L Otmani","doi":"10.1093/omcr/omaf165","DOIUrl":"10.1093/omcr/omaf165","url":null,"abstract":"<p><p>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a newly recognized demyelinating disease with diverse clinical and radiological manifestations that continue to expand over time. Its coexistence with Behçet's disease, a multisystem inflammatory disorder, has not been previously reported. We report a rare case of a 40-year-old female with Behçet's disease who was treated with colchicine and developed two attacks of longitudinal extensive transverse myelitis, associated with positive serum anti-MOG antibodies. During the first episode, the patient responded well to five days of intravenous methylprednisolone associated with two plasma exchange sessions. Although recommended, the patient declined Mycophenolate Mofetil treatment until the second episode. Since then, she has remained free of relapses during two years of follow-up, reinforcing the hypothesis that a background of autoimmune dysregulation may predispose patients to MOGAD and lead to its recurrence.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf165"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193518","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}
引用次数: 0
Erdheim-Chester disease with predominant cerebellar manifestations: a case report with literature review. 以小脑为主要表现的Erdheim-Chester病1例报告并文献复习。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf161
Sajjad Ghanim Al-Badri, Aditya Duhan, Rania H Al-Taie, Muntadher Yousif Hasan Al Gehadi, Abdullah Afridi
{"title":"Erdheim-Chester disease with predominant cerebellar manifestations: a case report with literature review.","authors":"Sajjad Ghanim Al-Badri, Aditya Duhan, Rania H Al-Taie, Muntadher Yousif Hasan Al Gehadi, Abdullah Afridi","doi":"10.1093/omcr/omaf161","DOIUrl":"10.1093/omcr/omaf161","url":null,"abstract":"<p><p>Erdheim-Chester disease (ECD) is a rare disorder marked by systemic infiltration of lipid-laden histiocytes, often due to BRAFV600E mutations. We present the case of a middle-aged male with progressive cerebellar dysfunction and obstructive hydrocephalus. MRI revealed a non-enhancing bilateral cerebellar mass with effacement of the fourth ventricle. The diagnosis was confirmed by histopathology showing CD68 and CD163 positivity and CD1a negativity. Initial management included an external ventricular drain, with systemic evaluation and molecular testing to guide further treatment, emphasizing the importance of multimodal diagnostics and tailored therapy in improving outcomes.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf161"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193534","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}
引用次数: 0
Gastrointestinal herpes zoster in a patient on infliximab: a case report. 英夫利昔单抗治疗患者发生胃肠道带状疱疹1例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf171
Imane El Hamraoui, Houda El Hiouy, Salma Mechhor, Manal Cherkaoui El Malki, Hicham El Bacha, Nadia Benzzoubeir, Fouad Zouaidia, Ikram Errabih
{"title":"Gastrointestinal herpes zoster in a patient on infliximab: a case report.","authors":"Imane El Hamraoui, Houda El Hiouy, Salma Mechhor, Manal Cherkaoui El Malki, Hicham El Bacha, Nadia Benzzoubeir, Fouad Zouaidia, Ikram Errabih","doi":"10.1093/omcr/omaf171","DOIUrl":"10.1093/omcr/omaf171","url":null,"abstract":"<p><p>Varicella-zoster virus (VZV) reactivation in immunocompromised patients may present atypically, including with severe gastrointestinal involvement. We present a case of a 36-year-old male with ileocolic Crohn's disease, who, following Infliximab (IFX) therapy, developed severe gastrointestinal symptoms. Subsequent investigations confirmed a disseminated VZV infection with esophagogastric and duodenal involvement. Our case highlights the crucial need for heightened clinical awareness regarding unusual VZV presentations in immunocompromised patients, especially those receiving TNF- α inhibitors such as Infliximab, known to increase the risk of VZV reactivation. Given the potentially high mortality rate (approximately 40%) associated with gastrointestinal VZV involvement, prompt and aggressive antiviral treatment is imperative.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf171"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193549","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}
引用次数: 0
A rare case of synchronous breast cancer metastasis to colonic and gastric mucosa-case report and review of literature. 乳癌同时转移至结肠及胃粘膜1例报告并文献复习。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf181
Zoha Asghar, Zubaid Moazzam Sheikh, Lubna Saleem
{"title":"A rare case of synchronous breast cancer metastasis to colonic and gastric mucosa-case report and review of literature.","authors":"Zoha Asghar, Zubaid Moazzam Sheikh, Lubna Saleem","doi":"10.1093/omcr/omaf181","DOIUrl":"10.1093/omcr/omaf181","url":null,"abstract":"<p><p>Distant metastasis from primary breast cancer typically affects the brain, liver, lungs, and bones. Less than 1% of patients exhibit metastasis to the stomach or colon, mimicking primary gastrointestinal tumors upon initial presentation. Here, we present the case of a middle-aged female who initially presented with synchronous breast cancer and metastasis to the gastrointestinal tract. A middle-aged female presented to our center with GI symptoms. Prior upper GI endoscopy showed diffuse infiltration of atypical tumor cells resembling poorly cohesive adenocarcinoma of the stomach. Immunohistochemical stains were positive for markers indicative of breast origin, and negative for CDX2 and TTF1, ruling out gastrointestinal and lung origins, respectively. Breast ultrasound confirmed architectural disruption, and suspicious bilateral axillary lymph nodes. Biopsy of the axillary lymph nodes confirmed the presence of breast cancer cells. She was treated with Letrozole and Ribociclib showing complete resolution on subsequent CT scans. The patient continues this regimen and is now in clinical and radiological remission for the past four years.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf181"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193448","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}
引用次数: 0
Donohue syndrome with a homozygous INSR exon 14 deletion: a case report. 伴有INSR外显子14纯合子缺失的Donohue综合征1例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf183
José Daniel Almazán Monroy, Arodys Julianny Valle Martinez, Sara Elizabeth Milla Salguero, Eduardo Smelin Perdomo Domínguez
{"title":"Donohue syndrome with a homozygous INSR exon 14 deletion: a case report.","authors":"José Daniel Almazán Monroy, Arodys Julianny Valle Martinez, Sara Elizabeth Milla Salguero, Eduardo Smelin Perdomo Domínguez","doi":"10.1093/omcr/omaf183","DOIUrl":"10.1093/omcr/omaf183","url":null,"abstract":"<p><p>Donohue syndrome (DS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in insulin receptor (INSR), leading to severe insulin resistance. It is characterized by extreme hyperinsulinemia, fasting hypoglycemia, postprandial hyperglycemia, severe growth restriction, and dysmorphic features, with a high mortality rate in the first year due to metabolic instability and infections. We report the case of a 3-month-old Honduran girl with a homozygous exon 14 deletion in INSR who presented with severe insulin resistance, metabolic dysregulation, and dysmorphic facial features. Despite treatment with octreotide, metformin, and maltodextrin, the patient's condition worsened, leading to septic shock, disseminated intravascular coagulation, and multiple organ failure. This case highlights the challenges in correlating genotype with phenotype in DS and emphasizes the importance of understanding how specific INSR mutations influence the treatment response and clinical outcomes.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf183"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193527","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}
引用次数: 0
Recurrent pulmonary embolism and azygos vein thrombosis during varenicline therapy for smoking cessation. 伐尼克兰戒烟治疗期间复发性肺栓塞和奇静脉血栓形成。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf164
Stanley Kim, BreeAnna Carlson, Kevin Chen, Frank Sabatelli
{"title":"Recurrent pulmonary embolism and azygos vein thrombosis during varenicline therapy for smoking cessation.","authors":"Stanley Kim, BreeAnna Carlson, Kevin Chen, Frank Sabatelli","doi":"10.1093/omcr/omaf164","DOIUrl":"10.1093/omcr/omaf164","url":null,"abstract":"<p><p>Venous thromboembolism (VTE) associated with varenicline is extremely rare. We present the case of a young woman who experienced two distinct episodes of pulmonary embolism (PE) while taking varenicline. The patient developed her first episode of PE two months after varenicline use. Four years later, she experienced a second episode of PE and azygos vein thrombosis three weeks after restarting varenicline. Both episodes occurred in the absence of any identifiable provoking factors. Her family history of VTE was negative, and an evaluation of hypercoagulability revealed no abnormalities. We report the first documented case of recurrent PE and the first case of azygos vein thrombosis associated with varenicline use. This case may suggest a potential association between varenicline use and VTE. Clinicians should assess the VTE risk and closely monitor patients taking varenicline.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf164"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193480","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}
引用次数: 0
Newly diagnosed T-large granular lymphocyte Leukemia presenting with severe neutropenia: a case report. 新诊断的t大颗粒淋巴细胞白血病伴严重中性粒细胞减少1例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI: 10.1093/omcr/omaf170
Soukaina El Asmar, Najat Lasri, Fatimazahra Lahlimi, Hicham Yahyaoui, Illias Tazi
{"title":"Newly diagnosed T-large granular lymphocyte Leukemia presenting with severe neutropenia: a case report.","authors":"Soukaina El Asmar, Najat Lasri, Fatimazahra Lahlimi, Hicham Yahyaoui, Illias Tazi","doi":"10.1093/omcr/omaf170","DOIUrl":"10.1093/omcr/omaf170","url":null,"abstract":"<p><p>T-large granular lymphocyte leukemia (T-LGLL) is an uncommon chronic lymphoproliferative syndrome marked by clonal proliferation of cytotoxic (CD8+) T cells. It is usually characterized by cytopenia, particularly neutropenia, and may be associated with autoimmune disease. We report a case of a 56-year-old Moroccan female patient presenting with a 2-month history of dry eye syndrome, asthenia, and severe neutropenia. Initial investigations revealed lymphocytosis, and the peripheral blood smear revealed approximately 13% of large granular lymphocytes. Flow cytometry confirmed T-LGLL with a CD3+, CD8+, CD57+ phenotype. First-line treatment with low-dose methotrexate yielded no improvement after six months. The patient was then successfully treated with oral cyclophosphamide, with normalization of neutrophil and hemoglobin levels, and resolution of sicca symptoms. This case highlights the importance of early diagnosis and tailored immunosuppressive therapy in managing T-LGLL, particularly in patients with severe neutropenia.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 9","pages":"omaf170"},"PeriodicalIF":0.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193530","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}
引用次数: 0
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