Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf251
Jan V Stevens, Ehsan Aliniagerdroudbari, Osaevbie Woghiren, Daniel Neill, Steve Kim, Andrew Isaacson
A 49-year-old woman presented with a chronic, painful umbilical mass refractory to antibiotics and incision and drainage, ultimately diagnosed as well-differentiated squamous cell carcinoma (SCC) with positive margins. Imaging revealed an abnormal left inguinal lymph node, and biopsy confirmed metastatic disease. She underwent wide local excision with abdominal wall reconstruction and completion inguinal lymphadenectomy, which demonstrated extranodal extension in 2 of 10 nodes. Adjuvant radiotherapy was administered to the left groin, but surveillance imaging five months later showed progression to retroperitoneal and periaortic lymphadenopathy. She is currently receiving cemiplimab immunotherapy, highlighting the importance of multimodal management in treating rare primary abdominal wall SCC. As much of the literature and prior reports focus on cutaneous SCC, this case provides a unique insight into the diagnosis, treatment, and future of care in aggressive metastatic non-cutaneous primary SCC.
{"title":"Squamous cell carcinoma in an umbilical cyst: a clinical image.","authors":"Jan V Stevens, Ehsan Aliniagerdroudbari, Osaevbie Woghiren, Daniel Neill, Steve Kim, Andrew Isaacson","doi":"10.1093/omcr/omaf251","DOIUrl":"https://doi.org/10.1093/omcr/omaf251","url":null,"abstract":"<p><p>A 49-year-old woman presented with a chronic, painful umbilical mass refractory to antibiotics and incision and drainage, ultimately diagnosed as well-differentiated squamous cell carcinoma (SCC) with positive margins. Imaging revealed an abnormal left inguinal lymph node, and biopsy confirmed metastatic disease. She underwent wide local excision with abdominal wall reconstruction and completion inguinal lymphadenectomy, which demonstrated extranodal extension in 2 of 10 nodes. Adjuvant radiotherapy was administered to the left groin, but surveillance imaging five months later showed progression to retroperitoneal and periaortic lymphadenopathy. She is currently receiving cemiplimab immunotherapy, highlighting the importance of multimodal management in treating rare primary abdominal wall SCC. As much of the literature and prior reports focus on cutaneous SCC, this case provides a unique insight into the diagnosis, treatment, and future of care in aggressive metastatic non-cutaneous primary SCC.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf251"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145641041","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}
In this case study, we describe the presentation of a 6-year-old male patient afflicted with iron deficiency anaemia (IDA) who manifested gastrointestinal obstruction attributable to the habitual ingestion of brick dust and soil, a characteristic behaviour associated with pica. The obstructive material, resembling bricks in consistency, necessitated manual extraction from the patient's anus. Subsequently, the patient received oral iron supplementation as part of the therapeutic regimen. While the causative relationship between pica and IDA remains subject to ongoing debate within the scientific community, our findings underscore the importance of implementing routine screening protocols for iron deficiency in the evaluation of lithobezoar cases among paediatric populations.
{"title":"Sigmoid Lithobezoar associated with iron deficiency anaemia: a rare case report.","authors":"Bodhisatya Das, Mahaprasad Pal, Kaustav Nayek, Wasim Akram, Dattatreya Mukherjee, Sumitaksha Banerjee, Aymar Akilimali","doi":"10.1093/omcr/omaf252","DOIUrl":"https://doi.org/10.1093/omcr/omaf252","url":null,"abstract":"<p><p>In this case study, we describe the presentation of a 6-year-old male patient afflicted with iron deficiency anaemia (IDA) who manifested gastrointestinal obstruction attributable to the habitual ingestion of brick dust and soil, a characteristic behaviour associated with pica. The obstructive material, resembling bricks in consistency, necessitated manual extraction from the patient's anus. Subsequently, the patient received oral iron supplementation as part of the therapeutic regimen. While the causative relationship between pica and IDA remains subject to ongoing debate within the scientific community, our findings underscore the importance of implementing routine screening protocols for iron deficiency in the evaluation of lithobezoar cases among paediatric populations.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf252"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145641065","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf253
Ayushi Gupta, Venugopala D, Alam Nawaz, Vivek Hari
Introduction: Methotrexate (MTX) is a key drug in rheumatoid arthritis (RA) management but can rarely cause life-threatening hematologic toxicity, including therapy-related myelodysplastic syndrome (t-MDS), even at low doses.
Case presentation: A 58-year-old male with RA on low-dose MTX (7.5 mg/week) presented with pancytopenia. Evaluation showed Hb 5.7 g/dL, TLC 1300/μL, and platelets 63 000/μL. Nutritional deficiencies, infections, and autoimmune flare were excluded. Bone marrow examination revealed dysplasia with 11% blasts and abnormal precursors, suggestive of t-MDS. MTX and leflunomide were discontinued. He received leucovorin, G-CSF (Granulocyte colony stimulating factor), and supportive care. Rapid hematologic recovery was observed.
Conclusion: This case highlights the potential for low-dose MTX to cause t-MDS, which may be reversible if detected early. As serum MTX levels do not correlate with toxicity, regular blood count monitoring is essential. Prompt drug withdrawal and supportive therapy can lead to full recovery and prevent permanent marrow damage.
{"title":"Therapy related myelodysplastic syndrome: a hematologic sequela of low dose methotrexate in rheumatoid arthritis.","authors":"Ayushi Gupta, Venugopala D, Alam Nawaz, Vivek Hari","doi":"10.1093/omcr/omaf253","DOIUrl":"10.1093/omcr/omaf253","url":null,"abstract":"<p><strong>Introduction: </strong>Methotrexate (MTX) is a key drug in rheumatoid arthritis (RA) management but can rarely cause life-threatening hematologic toxicity, including therapy-related myelodysplastic syndrome (t-MDS), even at low doses.</p><p><strong>Case presentation: </strong>A 58-year-old male with RA on low-dose MTX (7.5 mg/week) presented with pancytopenia. Evaluation showed Hb 5.7 g/dL, TLC 1300/μL, and platelets 63 000/μL. Nutritional deficiencies, infections, and autoimmune flare were excluded. Bone marrow examination revealed dysplasia with 11% blasts and abnormal precursors, suggestive of t-MDS. MTX and leflunomide were discontinued. He received leucovorin, G-CSF (Granulocyte colony stimulating factor), and supportive care. Rapid hematologic recovery was observed.</p><p><strong>Conclusion: </strong>This case highlights the potential for low-dose MTX to cause t-MDS, which may be reversible if detected early. As serum MTX levels do not correlate with toxicity, regular blood count monitoring is essential. Prompt drug withdrawal and supportive therapy can lead to full recovery and prevent permanent marrow damage.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf253"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12698340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757829","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf228
Carlos Eduardo Solórzano Flores, Daniel Aguilar, Fabiola Langner-Salinas, Carolina Hovelmeyer Jurgens, Diya Mehta
Situs inversus totalis (SIT) is a rare congenital abnormality characterized by a mirror-image transposition of thoracic and abdominal organs. Although SIT is a recognized congenital anomaly, it is often unfamiliar to physicians because it is typically asymptomatic and discovered incidentally. We report the case of a 7-year-old girl from Central Honduras who presented with decreased visual acuity in the right eye, and was diagnosed with granulomatous panuveitis. Clinical evaluation revealed a right-sided apex beat, systolic murmur, and left-sided hepatic dullness. Electrocardiogram showed right axis deviation, inverted P waves in I and aVL, and positive P waves in aVR. Radiographic and Ultrasonography imaging confirmed dextrocardia, right-sided aortic knuckle, and mirror-image transposition of abdominal organs, consistent with SIT. This rare coexistence of SIT with ocular inflammation highlights the importance of multidisciplinary evaluation in atypical clinical presentations. Although often asymptomatic, SIT requires recognition to avoid diagnostic errors and guide appropriate management.
{"title":"An incidental situs Inversus Totalis in a Pediatric case of granulomatous Panuveitis. A case report.","authors":"Carlos Eduardo Solórzano Flores, Daniel Aguilar, Fabiola Langner-Salinas, Carolina Hovelmeyer Jurgens, Diya Mehta","doi":"10.1093/omcr/omaf228","DOIUrl":"https://doi.org/10.1093/omcr/omaf228","url":null,"abstract":"<p><p>Situs inversus totalis (SIT) is a rare congenital abnormality characterized by a mirror-image transposition of thoracic and abdominal organs. Although SIT is a recognized congenital anomaly, it is often unfamiliar to physicians because it is typically asymptomatic and discovered incidentally. We report the case of a 7-year-old girl from Central Honduras who presented with decreased visual acuity in the right eye, and was diagnosed with granulomatous panuveitis. Clinical evaluation revealed a right-sided apex beat, systolic murmur, and left-sided hepatic dullness. Electrocardiogram showed right axis deviation, inverted P waves in I and aVL, and positive P waves in aVR. Radiographic and Ultrasonography imaging confirmed dextrocardia, right-sided aortic knuckle, and mirror-image transposition of abdominal organs, consistent with SIT. This rare coexistence of SIT with ocular inflammation highlights the importance of multidisciplinary evaluation in atypical clinical presentations. Although often asymptomatic, SIT requires recognition to avoid diagnostic errors and guide appropriate management.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf228"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640205","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf198
Masab Ali, Muhammad Hassan, Muhammad Husnain Ahmad, Ilsa Babar, Sana Javeriya, Muhammad Asfand Nadeem, Humza Saeed
Introduction: Gliomas, particularly glioblastomas (GBMs), are the most common malignant primary brain tumors, comprising nearly 80% of CNS malignancies. Despite aggressive treatment, recurrence is common due to its infiltrative nature and therapy resistance, with median survival around 14-15 months.
Case presentation: A 48-year-old male with a history of WHO Grade IV glioblastoma presented five years after subtotal resection with recurrent symptoms. He had not received adjuvant radiotherapy and was lost to follow-up. Recent imaging showed a lesion near the original tumor site. He underwent repeat craniotomy with subtotal excision. The patient's neurological status remained stable postoperatively, although headaches persisted.
Discussion: Recurrent GBMs pose significant management challenges due to diagnostic complexity and limited treatment options. Multimodal imaging and individualized strategies, including surgery and potential adjuvant therapies, are critical.
Conclusion: This case underscores the need for vigilant follow-up and a personalized, multidisciplinary approach to improve outcomes in patients with recurrent glioblastoma.
{"title":"Management of persistent residual growth of high-grade glioma: a case report highlighting clinical and therapeutic challenges.","authors":"Masab Ali, Muhammad Hassan, Muhammad Husnain Ahmad, Ilsa Babar, Sana Javeriya, Muhammad Asfand Nadeem, Humza Saeed","doi":"10.1093/omcr/omaf198","DOIUrl":"https://doi.org/10.1093/omcr/omaf198","url":null,"abstract":"<p><strong>Introduction: </strong>Gliomas, particularly glioblastomas (GBMs), are the most common malignant primary brain tumors, comprising nearly 80% of CNS malignancies. Despite aggressive treatment, recurrence is common due to its infiltrative nature and therapy resistance, with median survival around 14-15 months.</p><p><strong>Case presentation: </strong>A 48-year-old male with a history of WHO Grade IV glioblastoma presented five years after subtotal resection with recurrent symptoms. He had not received adjuvant radiotherapy and was lost to follow-up. Recent imaging showed a lesion near the original tumor site. He underwent repeat craniotomy with subtotal excision. The patient's neurological status remained stable postoperatively, although headaches persisted.</p><p><strong>Discussion: </strong>Recurrent GBMs pose significant management challenges due to diagnostic complexity and limited treatment options. Multimodal imaging and individualized strategies, including surgery and potential adjuvant therapies, are critical.</p><p><strong>Conclusion: </strong>This case underscores the need for vigilant follow-up and a personalized, multidisciplinary approach to improve outcomes in patients with recurrent glioblastoma.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf198"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640923","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}
This report describes a rare case of pneumatosis cystoides intestinalis in a dialysis patient with autosomal dominant polycystic kidney disease, detected at autopsy. Pathological findings suggest a potential link between intestinal gas cyst formation and the structural fragility associated with polycystic kidney disease.
{"title":"Autopsy detection of Pneumatosis Cystoides Intestinalis in a patient with end-stage renal failure from autosomal dominant polycystic kidney disease undergoing dialysis: a case report.","authors":"Rei Sekiguchi, Kotaro Sugimoto, Akihiko Ozaki, Tomoro Kojima, Keigo Yoshida, Hiroaki Kawakami, Ashita Ono, Tomohiro Kurokawa, Kenji Gonda, Hiroaki Shimmura, Toyoaki Sawano","doi":"10.1093/omcr/omaf095","DOIUrl":"https://doi.org/10.1093/omcr/omaf095","url":null,"abstract":"<p><p>This report describes a rare case of pneumatosis cystoides intestinalis in a dialysis patient with autosomal dominant polycystic kidney disease, detected at autopsy. Pathological findings suggest a potential link between intestinal gas cyst formation and the structural fragility associated with polycystic kidney disease.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf095"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640885","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf229
Osamu Matsuno
{"title":"Black eye without a blow: eyelid ecchymosis triggered by coughing.","authors":"Osamu Matsuno","doi":"10.1093/omcr/omaf229","DOIUrl":"https://doi.org/10.1093/omcr/omaf229","url":null,"abstract":"","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf229"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640804","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf225
Asaad A Khalaf, Mohammed Al Farttoosi, Sajjad Ghanim Al-Badri, Abbas Hamza Abbas, Riyam Mudheher Nabbat Al-Ajrash, Ahmed Shamil Hashim, Zaryab Bacha
Pure red blood cell aplasia (PRCA) is a rare complication of major ABO-incompatible hematopoietic stem cell transplantation (HSCT), characterized by severe anemia due to impaired erythropoiesis. We report the case of 52 year old man with chronic myeloid leukemia who developed refractory PRCA four months post transplant. The patient was unresponsive to multiple immunosuppressive agents but showed marked hematologic recovery following ten sessions of plasma exchange (PEX) over five weeks. Hemoglobine level rose from 6 g/Dl to 16 g/dL, eliminating the need for further transfusions. This report highlights a case of refractory PRCA successfully treated with PEX, underscoring its potential efficacy and the need for further research to establish treatment guidelines.
{"title":"Plasma exchange as an effective treatment for refractory pure red cell aplasia post-ABO-incompatible hematopoietic stem cell transplantation: a rare complication.","authors":"Asaad A Khalaf, Mohammed Al Farttoosi, Sajjad Ghanim Al-Badri, Abbas Hamza Abbas, Riyam Mudheher Nabbat Al-Ajrash, Ahmed Shamil Hashim, Zaryab Bacha","doi":"10.1093/omcr/omaf225","DOIUrl":"https://doi.org/10.1093/omcr/omaf225","url":null,"abstract":"<p><p>Pure red blood cell aplasia (PRCA) is a rare complication of major ABO-incompatible hematopoietic stem cell transplantation (HSCT), characterized by severe anemia due to impaired erythropoiesis. We report the case of 52 year old man with chronic myeloid leukemia who developed refractory PRCA four months post transplant. The patient was unresponsive to multiple immunosuppressive agents but showed marked hematologic recovery following ten sessions of plasma exchange (PEX) over five weeks. Hemoglobine level rose from 6 g/Dl to 16 g/dL, eliminating the need for further transfusions. This report highlights a case of refractory PRCA successfully treated with PEX, underscoring its potential efficacy and the need for further research to establish treatment guidelines.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf225"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640954","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}
Pub Date : 2025-11-26eCollection Date: 2025-11-01DOI: 10.1093/omcr/omaf233
Ömer Atlı
Kartagener syndrome, a subset of primary ciliary dyskinesia, is typically diagnosed in childhood due to its classic triad of situs inversus, chronic sinusitis, and bronchiectasis. We report a compelling case of a 38-year-old woman from a remote village who presented to our emergency department with palpitations, dyspnea, and reflux. All symptoms resolved with rest and PPIs. Routine investigations revealed dextrocardia on ECG and chest radiography. Despite a limited history of hospital visits, she had a known history of nasal polyps, chronic cough with mucus expectoration, and recurrent bronchitis. A clinical diagnosis of Kartagener syndrome was made based on clinical features and basic diagnostic tools. This case underscores the importance of maintaining diagnostic vigilance in adult patients and highlights the potential for accurate diagnosis even in resource-constrained settings. It emphasizes how physical examination and plain radiography can reveal significant diagnostic clues, even in the absence of advanced investigations.
{"title":"Late diagnosis of Kartagener syndrome in a 38-year-old female presenting with palpitations in a resource-limited emergency department.","authors":"Ömer Atlı","doi":"10.1093/omcr/omaf233","DOIUrl":"https://doi.org/10.1093/omcr/omaf233","url":null,"abstract":"<p><p>Kartagener syndrome, a subset of primary ciliary dyskinesia, is typically diagnosed in childhood due to its classic triad of situs inversus, chronic sinusitis, and bronchiectasis. We report a compelling case of a 38-year-old woman from a remote village who presented to our emergency department with palpitations, dyspnea, and reflux. All symptoms resolved with rest and PPIs. Routine investigations revealed dextrocardia on ECG and chest radiography. Despite a limited history of hospital visits, she had a known history of nasal polyps, chronic cough with mucus expectoration, and recurrent bronchitis. A clinical diagnosis of Kartagener syndrome was made based on clinical features and basic diagnostic tools. This case underscores the importance of maintaining diagnostic vigilance in adult patients and highlights the potential for accurate diagnosis even in resource-constrained settings. It emphasizes how physical examination and plain radiography can reveal significant diagnostic clues, even in the absence of advanced investigations.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf233"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640973","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}
Idiopathic hypereosinophilic syndrome (HES) is defined as blood eosinophilia on at least 2 occasions or evidence of prominent tissue eosinophilia with exclusion of secondary causes, commonly affecting the lungs but rarely the liver. A 44-year-old woman presented with 18 months of progressive dyspnea, cough, and intermittent fever. Investigations revealed marked leukocytosis with hypereosinophilia, cholestatic pattern of liver enzyme elevation, and hypergammaglobulinemia. High-resolution computed tomography of the chest showed bilateral fibrotic changes suggestive of sarcoidosis. Antinuclear antibody testing was strongly positive with a cytoplasmic filamentous pattern, suggesting autoimmune hepatitis or eosinophilic granulomatosis with polyangiitis. Liver biopsy revealed pericellular and portal fibrosis, focal eosinophilic infiltration, mild hepatocellular cholestasis, and occasional multinucleated giant cells. After excluding mimics, a diagnosis of HES with isolated pulmonary and hepatic involvement was established. This case highlights the importance of considering HES in patients with longstanding respiratory symptoms and systemic findings, especially when autoimmune markers may be misleading.
{"title":"Hypereosinophilic syndrome with pulmonary and hepatic involvement mimicking autoimmune disease.","authors":"Krishna Chakravarty, Sushmitha Ravindran, Prasan Kumar Panda, Aryan Deol, Ashok Singh, Girish Sindhwani","doi":"10.1093/omcr/omaf238","DOIUrl":"https://doi.org/10.1093/omcr/omaf238","url":null,"abstract":"<p><p>Idiopathic hypereosinophilic syndrome (HES) is defined as blood eosinophilia on at least 2 occasions or evidence of prominent tissue eosinophilia with exclusion of secondary causes, commonly affecting the lungs but rarely the liver. A 44-year-old woman presented with 18 months of progressive dyspnea, cough, and intermittent fever. Investigations revealed marked leukocytosis with hypereosinophilia, cholestatic pattern of liver enzyme elevation, and hypergammaglobulinemia. High-resolution computed tomography of the chest showed bilateral fibrotic changes suggestive of sarcoidosis. Antinuclear antibody testing was strongly positive with a cytoplasmic filamentous pattern, suggesting autoimmune hepatitis or eosinophilic granulomatosis with polyangiitis. Liver biopsy revealed pericellular and portal fibrosis, focal eosinophilic infiltration, mild hepatocellular cholestasis, and occasional multinucleated giant cells. After excluding mimics, a diagnosis of HES with isolated pulmonary and hepatic involvement was established. This case highlights the importance of considering HES in patients with longstanding respiratory symptoms and systemic findings, especially when autoimmune markers may be misleading.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 11","pages":"omaf238"},"PeriodicalIF":0.4,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12648513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640981","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}