Oxford Medical Case Reports最新文献

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Atypical presentation of Merkel cell carcinoma with pulmonary embolism. 默克尔细胞癌合并肺栓塞的不典型表现。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf076
Romina Garakani, Michael Moradi, Fatima Batool, Muhammad Aameish, Manzoor A Rather
{"title":"Atypical presentation of Merkel cell carcinoma with pulmonary embolism.","authors":"Romina Garakani, Michael Moradi, Fatima Batool, Muhammad Aameish, Manzoor A Rather","doi":"10.1093/omcr/omaf076","DOIUrl":"10.1093/omcr/omaf076","url":null,"abstract":"<p><p>Merkel cell carcinoma (MCC) is a rare aggressive neuroendocrine malignancy that typically presents in the skin and rapidly progresses to other body parts. MCC is typically found in sun-exposed areas, mainly the head and neck region as well as the upper limbs and shoulders. It typically affects fair-skinned elderly males. In this report, we present an unusual MCC case of a 48-year-old Caucasian male with an initial presentation of a massive pulmonary embolism. Further work-up of our patient indicated no typical MCC skin presentation, but rather metastases of the disease. The goal of this report is to highlight the importance of considering MCC as a differential even when patients do not present with common MCC risk factors or skin presentations.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf076"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973488","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
Diagnosis and treatment of Ascarial pancreatitis: a case report and literature review. 蛔虫性胰腺炎的诊断和治疗:1例报告并文献复习。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf135
Hongyu He, Hao Guo, Zhongtao Li, Shu Wang, GuoJun Zhou, Zhi Liu, Jianyu Chen, Zhengwei Leng, Liang Xie
{"title":"Diagnosis and treatment of Ascarial pancreatitis: a case report and literature review.","authors":"Hongyu He, Hao Guo, Zhongtao Li, Shu Wang, GuoJun Zhou, Zhi Liu, Jianyu Chen, Zhengwei Leng, Liang Xie","doi":"10.1093/omcr/omaf135","DOIUrl":"10.1093/omcr/omaf135","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of diseases caused by parasites has decreased due to improved sanitary conditions. Acute pancreatitis caused by parasites, especially Ascaris lumbricoides worms, is relatively rare and difficult to diagnose. In some cases, it may even be misdiagnosed as idiopathic acute pancreatitis due to the difficulty of identifying the underlying cause. Research indicates that about 1.4 billion people worldwide are infected with Ascaris lumbricoides worms, and pancreatitis caused by roundworms accounts for only 5.50% of the total cases. Therefore, it is imperative to gain a comprehensive understanding of the pathological process, diagnosis, and treatment of pancreatitis caused by Ascaris lumbricoides worms.</p><p><strong>Case presentation: </strong>We describe a case of Ascariasis-induced pancreatitis in an 82-year-old woman who was admitted to our emergency department with persistent abdominal pain, nausea, and vomiting for 6 h. Abdominal magnetic resonance imaging and magnetic resonance cholangiopancreatography revealed abnormal tubular signals in the common bile duct segment, accompanied by dilation of the hilar and common bile ducts. Consequently, a diagnosis of Ascariasis-induced pancreatitis was made.</p><p><strong>Result: </strong>Ascariasis-induced pancreatitis was detected in individuals of all age groups and genders. Most cases occurred in Asia (43 cases, 66.15%) and Europe (8 cases, 12.3%). The most common symptoms were abdominal pain and fever. The diagnosis was primarily by ultrasound examination (43.3%) and endoscopic procedures. Regarding treatment, 76.7% of the patients received antiparasitic drugs, while 85.45% underwent endoscopic procedures to directly remove the Ascaris worms. In our case, the patient underwent laparoscopic procedures to remove a 20 cm-long ascaris worms and alleviate symptoms.</p><p><strong>Conclusion: </strong>Ascariasis-induced pancreatitis is more commonly detected among Asians, being more frequent with adult females. The clinical symptoms are often atypical compared to those of pancreatitis caused by other etiologies. In cases of acute pancreatitis resulting from biliary ascariasis, it is recommended that clinicians employ a combination of imaging modalities to support the diagnostic process. The literature indicates that endoscopic retrograde cholangiopancreatography (ERCP) has been the primary treatment approach in the majority of reported cases. In recent years, laparoscopic surgery has been found to be associated with faster recovery and reduced trauma. In complex cases involving severe cholecystitis or intrahepatic biliary ascariasis, laparoscopy offers distinct and irreplaceable benefits.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf135"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973447","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
Alternative approach of complicated peptic ulcer perforation in recurrent and delayed-two cases. 复发性和迟发性消化性溃疡穿孔的替代入路治疗2例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf134
Ahmed Taha
{"title":"Alternative approach of complicated peptic ulcer perforation in recurrent and delayed-two cases.","authors":"Ahmed Taha","doi":"10.1093/omcr/omaf134","DOIUrl":"10.1093/omcr/omaf134","url":null,"abstract":"<p><p>Gastric and duodenal ulcer perforation represents one of the most critical causes of acute abdomen, necessitating urgent surgical intervention. While primary repair with omental patch remains the standard treatment for uncomplicated cases, alternative surgical approaches may be preferable in complex or delayed presentations. We illustrate this variability through two distinct cases. <i>Case I:</i> A recurrent gastric perforation managed via wedge resection using linear staplers, reinforced with Lembert sutures to ensure staple-line integrity. <i>Case II:</i> A delayed duodenal perforation treated with Heineke-Mikulicz duodenoplasty combined with omentoplasty to address tissue edema and mitigate leakage risk. These cases highlight the necessity of adapting surgical strategies to patient-specific factors, such as perforation chronicity, tissue viability, and prior intervention history. Unlike routine repairs, complex scenarios often demand advanced techniques to optimize outcomes and reduce morbidity.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf134"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973532","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 case of paraneoplastic myositis induced rhabdomyolysis due to pancreatic adenocarcinoma. 胰腺癌致副瘤性肌炎横纹肌溶解1例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf141
Ariel Ahl, Rafi Orphali, Kumar Desai
{"title":"A case of paraneoplastic myositis induced rhabdomyolysis due to pancreatic adenocarcinoma.","authors":"Ariel Ahl, Rafi Orphali, Kumar Desai","doi":"10.1093/omcr/omaf141","DOIUrl":"10.1093/omcr/omaf141","url":null,"abstract":"<p><p>Rhabdomyolysis is a clinical syndrome characterized by the breakdown of skeletal muscle tissue, leading to the release of myoglobin and creatine kinase (CK) into the bloodstream. The condition clinically presents with myalgia, weakness, and dark urine. It can lead to kidney failure and can be life threatening. Various factors and conditions, including trauma, prolonged immobilization, strenuous exercise, infections, alcohol consumption, medications, and malignancies are potential causes. A rare cause of pancreatic cancer-induced paraneoplastic myositis has been observed. Herein, we present the case of an 87-year-old man who presented with fatigue, weight loss, and invasive pancreatic adenocarcinoma resulting in rhabdomyolysis due to paraneoplastic myositis.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf141"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973357","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 new case of Tropheryma whipplei infective endocarditis. 惠氏滋养瘤感染性心内膜炎1例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf140
Rova Malala Fandresena Randrianarisoa, Mathilde Tonnelier, Morgane Mailhe, Marylou Para, Anne-Lise Lecapitaine
{"title":"A new case of <i>Tropheryma whipplei</i> infective endocarditis.","authors":"Rova Malala Fandresena Randrianarisoa, Mathilde Tonnelier, Morgane Mailhe, Marylou Para, Anne-Lise Lecapitaine","doi":"10.1093/omcr/omaf140","DOIUrl":"10.1093/omcr/omaf140","url":null,"abstract":"<p><strong>Introduction: </strong>Infective endocarditis is a rare complication of untreated Whipple's disease. We present a case of infective endocarditis caused by <i>Tropheryma whipplei</i> in an aortic bioprosthesis.</p><p><strong>Case presentation: </strong>A 77-year-old man with a bioprosthetic aortic valve and pacemaker presented with two months of fever. He had a history of HLA-B27-negative ankylosing spondylitis treated with adalimumab. Examination revealed a systolic aortic murmur. Transthoracic echocardiography revealed vegetation on the aortic bioprosthetis. Serologies and cultures were negative. He underwent valve replacement, endocavitary pacemaker system removal, and epicardial pacemaker implantation. Valve tissue PCR and 16S rRNA sequencing were positive for <i>T. whipplei</i>. Empiric ceftriaxone was given for two weeks, followed by doxycycline and hydroxychloroquine for 12 months, then lifelong doxycycline monotherapy.</p><p><strong>Conclusion: </strong>Whipple's endocarditis is difficult to diagnose due to its atypical presentation and frequent failure to meet Duke criteria. Tissue PCR plays a crucial role when standard microbiologic testing is inconclusive.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf140"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973419","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
Challenges in diagnosing confluent and reticulated papillomatosis: a case of atypical lesions distribution. 诊断融合和网状乳头状瘤病的挑战:一个不典型病变分布的病例。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf142
Mohammad Obada Alsadi, Dalia Alghali, Ayah Zoghpy, Sultaneh Haddad, Mu'taz Jwainat, Hanan Jawad, Reshdy Almaghoush, Doha Zeeb, Nour Alhoda Eysa, Nemat Alsaghir
{"title":"Challenges in diagnosing confluent and reticulated papillomatosis: a case of atypical lesions distribution.","authors":"Mohammad Obada Alsadi, Dalia Alghali, Ayah Zoghpy, Sultaneh Haddad, Mu'taz Jwainat, Hanan Jawad, Reshdy Almaghoush, Doha Zeeb, Nour Alhoda Eysa, Nemat Alsaghir","doi":"10.1093/omcr/omaf142","DOIUrl":"10.1093/omcr/omaf142","url":null,"abstract":"<p><p>Gougerot-Carteaud Syndrome (Confluent and Reticulate Papillomatosis, CARP) is a rare dermatological condition characterized by coalescent reticulate papules predominantly affecting the upper trunk and neck. The etiology remains debated, with hypotheses ranging from keratinization disorders to bacterial and fungal infections, endocrine abnormalities, and genetic predispositions. This report presents the case of an 18-year-old male with pruritic, maculopapular, and scaly lesions unresponsive to antifungal and antibiotic therapies. Histopathological examination revealed hyperkeratosis, acanthosis, and papillomatosis, leading to a diagnosis of CARP. Despite initial treatment with doxycycline, the patient showed significant improvement only after isotretinoin therapy, suggesting a non-bacterial etiology. The consanguinity in the patient's family underscores the potential for genetic factors in CARP's pathogenesis. This case highlights the diagnostic and therapeutic challenges associated with CARP and emphasizes the need for further research into its underlying mechanisms.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf142"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973475","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
Fatal facial necrotizing fasciitis: a case report highlighting diagnostic and therapeutic challenges. 致死性面部坏死性筋膜炎:一个病例报告强调诊断和治疗的挑战。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf137
Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Ahsan, Austin Mitchell, Azka Asad Mirza, Joshiah Gordon, Rahmat Gul Omarzai
{"title":"Fatal facial necrotizing fasciitis: a case report highlighting diagnostic and therapeutic challenges.","authors":"Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Ahsan, Austin Mitchell, Azka Asad Mirza, Joshiah Gordon, Rahmat Gul Omarzai","doi":"10.1093/omcr/omaf137","DOIUrl":"10.1093/omcr/omaf137","url":null,"abstract":"<p><strong>Background: </strong>Facial Necrotizing Fasciitis (FNF) is a rare but aggressive, life-threatening infection involving the face's subcutaneous tissues and underlying musculature. It can rapidly progress to septic shock and multi-organ failure if not promptly recognized and treated. The clinical course, including severe pain, disproportionate tenderness, and systemic signs, is often the most crucial factor in diagnosis. While computed tomography (CT) can aid in identifying early signs such as soft tissue swelling and gas formation, clinical suspicion remains paramount and should not be delayed by reliance on imaging alone. Without early intervention, FNF may lead to devastating outcomes, including disfigurement, blindness, or death.</p><p><strong>Case presentation: </strong>We present the case of a 70-year-old male who developed facial necrotizing fasciitis with rapid systemic progression. He initially presented to the emergency department with acute tenderness and swelling of the right ear. CT imaging revealed extensive edema and swelling in the subcutaneous fat of the face, scalp, and neck, most prominently involving the right external ear. Despite aggressive supportive measures-including ventilatory, cardiovascular, and renal support-the infection progressed to severe multi-organ failure, ultimately resulting in death.</p><p><strong>Conclusion: </strong>This case highlights the fulminant course and high mortality risk associated with FNF. Early recognition based on clinical evaluation, supported-but not replaced-by imaging, is essential for diagnosis. Prompt intervention with broad-spectrum antibiotics and surgical debridement offers the best chance to improve outcomes and prevent catastrophic complications such as septic shock, multi-organ failure, and death.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf137"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365970/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973482","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
Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions. 机械主动脉瓣置换术一直都是正确的选择吗?Cogan综合征伴主动脉瓣返流:一例不断变化的手术决策。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf143
Maram Gad, Lanya Faiq, Emma Arifagic, Alex Kamougeros, Stelios Ioannou, George Shiakos, Ioannis Tzanavaros
{"title":"Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.","authors":"Maram Gad, Lanya Faiq, Emma Arifagic, Alex Kamougeros, Stelios Ioannou, George Shiakos, Ioannis Tzanavaros","doi":"10.1093/omcr/omaf143","DOIUrl":"10.1093/omcr/omaf143","url":null,"abstract":"<p><p>Cogan Syndrome (CS) is a rare autoimmune disease, complicated by a variety of cardiac manifestations. This case report represents the only documented case in the Republic of Cyprus. It describes the experience of a 23- year-old woman with CS who presented with newly diagnosed, severe aortic regurgitation (AR) and suspected endocarditis. The patient was initially treated successfully with a Ross procedure, but the recurrence of acute AR a few years later, led to the decision to treat her with a mechanical valve replacement, minimising complications and providing as permanent of a surgical solution as possible. This case demonstrates the importance of individualising treatment for such patients.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf143"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973502","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
Hemorrhagic brain metastasis as the initial presentation of osteosarcoma: a rare case report. 以出血性脑转移为首发表现的骨肉瘤:一例罕见病例报告。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf138
Salma El Aouadi, Rania Bouanane, Soukaina Bahha, Imane Iraqui, Asaad El Bakkari, F Z Laamrani, Youssef Omor, Rachida Latib, Sanae Amalik
{"title":"Hemorrhagic brain metastasis as the initial presentation of osteosarcoma: a rare case report.","authors":"Salma El Aouadi, Rania Bouanane, Soukaina Bahha, Imane Iraqui, Asaad El Bakkari, F Z Laamrani, Youssef Omor, Rachida Latib, Sanae Amalik","doi":"10.1093/omcr/omaf138","DOIUrl":"10.1093/omcr/omaf138","url":null,"abstract":"<p><p>Osteosarcoma is the most common malignant bone tumor in children and adolescents, with a predilection for long bones and frequent pulmonary metastases. Brain metastases are rare, occurring in 1.8% to 5.6% of cases, and hemorrhagic ones are exceptionally uncommon, with only a few cases documented in the literature. We report the case of a 16-year-old girl who presented with acute headache and seizures. Imaging revealed hemorrhagic brain and pulmonary metastases, and biopsy confirmed a primary femoral osteosarcoma. This case represents an exceptionally rare presentation of osteosarcoma and highlights its aggressive metastatic behavior.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf138"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973457","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
Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges. 新生儿双侧无眼症:多系统异常和诊断挑战的综合征表现。
IF 0.4
Oxford Medical Case Reports Pub Date : 2025-08-20 eCollection Date: 2025-08-01 DOI: 10.1093/omcr/omaf133
Mira Hallak, Baraa Emran, Fathi Milhem, Abdalfatah Badran, Ajwad Mallak, Orabi Hajjeh, Noor Nabresi
{"title":"Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.","authors":"Mira Hallak, Baraa Emran, Fathi Milhem, Abdalfatah Badran, Ajwad Mallak, Orabi Hajjeh, Noor Nabresi","doi":"10.1093/omcr/omaf133","DOIUrl":"10.1093/omcr/omaf133","url":null,"abstract":"<p><p>Anophthalmia is a rare congenital defect where no ocular tissue is seen, and it involves 1 out of 10 000 to 20 000 live births. It is largely part of syndromes and consists of genetic, environmental origins, or multifactorial causes. We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology. Despite receiving multidisciplinary care, the patient unfortunately succumbed to complications, including refractory respiratory distress and seizures. Early diagnosis relies on timely imaging and confirmation, with management guided by appropriate genetic testing, an approach well illustrated by this case. Anophthalmia presents medical and psychosocial challenges that require a coordinated, multidisciplinary approach.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 8","pages":"omaf133"},"PeriodicalIF":0.4,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12365957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973485","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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