Wahab Moustafa, Jörg Silbermann, Salah Maksoud, Amr Badary
{"title":"Exploring Gorham-Strout syndrome in a young adult: an illustrative case report and literature review.","authors":"Wahab Moustafa, Jörg Silbermann, Salah Maksoud, Amr Badary","doi":"10.1093/omcr/omaf018","DOIUrl":"https://doi.org/10.1093/omcr/omaf018","url":null,"abstract":"<p><p>Gorham-Stout Syndrome (GSS) is an exceedingly rare condition characterized by bone loss and lymphatic vessel proliferation and presents diagnostic and therapeutic challenges. We present the case of a 29-year-old female with GSS manifesting as persistent headache and swelling in the left parietal bone. Initial misdiagnosis underscores the diagnostic complexity of GSS. Radiological imaging revealed characteristic features aiding in diagnosis, which were confirmed by histopathological examination showing bone tissue alterations consistent with GSS. Surgical resection and cranioplasty were successful, although post-operative complications, including late subacute hematoma and neurological symptoms, required careful management. This case underscores the importance of a multidisciplinary approach for diagnosing and managing GSS, emphasizing the importance of radiological and histopathological examinations, surgical intervention, and post- operative monitoring.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf018"},"PeriodicalIF":0.5,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045205","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}
Omar Altermanini, Anas A Ashour, Waleed K Abdullatef, Abdulrahman Arabi, Mhd Baraa Habib
{"title":"Kounis syndrome: acute myocardial injury triggered by ant bite-induced anaphylaxis.","authors":"Omar Altermanini, Anas A Ashour, Waleed K Abdullatef, Abdulrahman Arabi, Mhd Baraa Habib","doi":"10.1093/omcr/omaf020","DOIUrl":"https://doi.org/10.1093/omcr/omaf020","url":null,"abstract":"<p><p>Anaphylaxis triggered by insect bites is well-documented, but its association with acute myocardial injury (AMI) is rare. We report a case of Kounis syndrome, where an ant bite induced anaphylaxis and myocardial injury. A 47-year-old diabetic male presented with anaphylaxis following an ant bite, exhibiting hypotension, respiratory distress, and wheezing. Electrocardiography revealed transient widespread ST depression and ST elevation in lead aVR, a pattern reflecting global ischemia, which is uncommon in Kounis syndrome. Treatment with intramuscular adrenaline stabilized his condition. Peak troponin T levels were 1306 ng/l. Coronary angiography and cardiac MRI were unremarkable, ruling out significant coronary artery disease. The patient was diagnosed with Kounis syndrome and discharged with an EpiPen and instructions for anaphylaxis management. This case highlights the potential for ant bites to trigger anaphylaxis-associated myocardial injury, emphasizing the importance of prompt diagnosis and management of Kounis syndrome in similar scenarios.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf020"},"PeriodicalIF":0.5,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045246","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":"Renal pelvis rupture presenting as an acute abdomen in patient with Alzheimer's dementia: a case report and literature review.","authors":"Maja Sofronievska Glavinov, Tanja Petrovska, Jasminka Chabukovbska Radulovska, Ognen Tochko, Senol Tahir","doi":"10.1093/omcr/omaf017","DOIUrl":"https://doi.org/10.1093/omcr/omaf017","url":null,"abstract":"<p><p>Renal pelvis rupture (RPR) with clinical presentation of acute abdomen is an unusual clinical event and in a patient with Alzheimer's dementia is unique in its clinical presentation and differentiating the diagnosis. We report a case of a 75-year-old male Alzheimer's patient who complained of sudden right-sided flank and abdominal pain followed by nausea, and vomiting, without a history or signs of external trauma. Abdominal ultrasound showed fluid collection close to the right renal pelvis with first-grade hydronephrosis. Computed tomography revealed right colon overdistension and, a 2 mm proximal right ureteral stone, and contrast urography showed a dilated right renal pelvis with extravasation. After the endoscopic treatment with double-J stent, no contrast extravasation was seen on the control CTU, and the stent was removed after four weeks. Patients with Alzheimer's dementia presenting with acute abdomen and flank pain should be evaluated for renal pelvis rupture with prompt diagnosis and management.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf017"},"PeriodicalIF":0.5,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020689","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":"Bilateral pneumothorax following acupuncture.","authors":"Masahiro Kashiura, Hideto Yasuda, Takashi Moriya","doi":"10.1093/omcr/omaf015","DOIUrl":"https://doi.org/10.1093/omcr/omaf015","url":null,"abstract":"<p><p>A 57-year-old female presented to our emergency department with dyspnoea and cough two hours after receiving acupuncture on both sides of her back for dizziness. Acupuncture was applied to 16 sites from the posterior neck to the back. The needles were 0.16 mm in diameter and 3 cm in length. On arrival, the patient was alert and oriented, with a respiratory rate of 28 breaths/min, heart rate of 90 bpm, blood pressure of 148/89 mmHg, and 92% peripheral oxygen saturation upon 5 L/min oxygen administration via a face mask in room air. Decreased breath sounds were noted bilaterally. Skin findings on the chest and back were normal. Computed tomography before drainage revealed bilateral pneumothorax with slight subcutaneous emphysema around the fifth and sixth ribs in the left chest (Fig. 1). Bilateral chest drains were inserted, which resulted in rapid improvement in respiratory status and good lung re-expansion. The drains were removed four days later, and the patient was discharged.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf015"},"PeriodicalIF":0.5,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019718","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}
Salim Haddad, Elie Salloum, Abdullah Silan, Gazel Kalecioğlu, Maria Abdulnour, Sultaneh Haddad, Diana Alasmar, Mahmoud Alayash, Ahmed Noman Ghaleb
{"title":"Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.","authors":"Salim Haddad, Elie Salloum, Abdullah Silan, Gazel Kalecioğlu, Maria Abdulnour, Sultaneh Haddad, Diana Alasmar, Mahmoud Alayash, Ahmed Noman Ghaleb","doi":"10.1093/omcr/omae166","DOIUrl":"https://doi.org/10.1093/omcr/omae166","url":null,"abstract":"<p><p>Mutations in the NDUFV1 gene are associated with mitochondrial complex I deficiency and have been linked to various clinical conditions such as Leigh syndrome, severe infantile lactic acidosis, newborn cardiomyopathy, progressive leukoencephalopathy, and other encephalomyopathies. Genetic alterations revealed mitochondrial complex 1 deficiency, nuclear type 4 |AR: two compound heterozygous missense mutations in the NDUFV1 gene, c.640G < A (p.E214K) chr11:67377981 (Exon 1) and c.248C < T (p.S83L) chr11:67376115 (Exon 3) gene. Our case identifies a previously unknown pathogenic effect of the variant 'c.248C > T' in the NDUFV1 gene, observed in a 4-year-old boy with left-sided facial paralysis and balance impairment. While this discovery is significant, further exploration of NDUFV1 gene variants is essential for a comprehensive understanding and effective treatment strategies.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae166"},"PeriodicalIF":0.5,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053011","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}
Juan M Castañeda Martinez, Jose J I Y Zamora Diaz, Alison A Rodriguez Avila, Sandra B Somarriba Dominguez, Luis A Nava Fuentes
{"title":"Kikuchi-Fujimoto disease, case report.","authors":"Juan M Castañeda Martinez, Jose J I Y Zamora Diaz, Alison A Rodriguez Avila, Sandra B Somarriba Dominguez, Luis A Nava Fuentes","doi":"10.1093/omcr/omae211","DOIUrl":"10.1093/omcr/omae211","url":null,"abstract":"","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae211"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754703","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}
Saad Salim Naviwala, Waqas Ahmed Khan, Daania Shoaib, Taha Nafees, Muzammil Shakeel, Yasmin Abdul Rashid
{"title":"Metastatic non-small cell lung cancer with BRCA2 mutation-a therapeutic challenge.","authors":"Saad Salim Naviwala, Waqas Ahmed Khan, Daania Shoaib, Taha Nafees, Muzammil Shakeel, Yasmin Abdul Rashid","doi":"10.1093/omcr/omaf009","DOIUrl":"10.1093/omcr/omaf009","url":null,"abstract":"<p><p>Non-small cell lung cancer, specifically adenocarcinoma, is amenable to targeted therapy for genetic alterations. The role of BRCA mutations in pathogenesis and the efficacy of PARP inhibitors in these cases are still unclear. This case involves a 61-year-old male patient with a past history of Hodgkin's Lymphoma and a heavy smoking history who developed lung adenocarcinoma and was found to have a BRCA2 mutation. Following disease progression on first-line chemotherapy and a detailed case discussion in the multidisciplinary team meeting, second-line Olaparib was started, but the patient's condition worsened rapidly, and he died from the illness. This case highlights the fact that BRCA mutations, though less common, are a potential target that should be explored further. Further large-scale studies are crucial to understanding and improving treatment outcomes for patients with BRCA-mutated NSCLC.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omaf009"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754841","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}
Abdelhamid Benlghazi, Saad Benali, Moad Belouad, Hamza Messaoudi, Rachid Aitbouhou, Fatima El Mangoub, Mly Mehdi Elhassani, Jaouad Kouach
{"title":"Papilliferous syringocystadenoma in the vulva: a rare occurrence in gynecology.","authors":"Abdelhamid Benlghazi, Saad Benali, Moad Belouad, Hamza Messaoudi, Rachid Aitbouhou, Fatima El Mangoub, Mly Mehdi Elhassani, Jaouad Kouach","doi":"10.1093/omcr/omae213","DOIUrl":"10.1093/omcr/omae213","url":null,"abstract":"<p><p>Papilliferous syringocystadenoma is a rare cutaneous adnexal tumor, described in the literature as benign and of hamartomatous origin, although the underlying mechanisms are not fully understood. This tumor is usually seen on the lower eyelids and cheeks. Vulvar syringoma, on the other hand, is an extremely rare condition, with only a few cases reported in the literature. We report here the case of a 63-year-old woman who consulted us for a single nodular lesion located on the large right lip of the vulva. Microscopic examination of the biopsy revealed tumor proliferation with tubular and papillary architecture, associated with epidermis. Although the diagnosis of vulvar syringoma is rare, it is important to consider it when establishing the differential diagnosis in the presence of vulvar pruritus.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae213"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755001","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 multimodality imaging approach to chronic constrictive pericarditis revealed by a symptomatic atrial fibrillation: case report and literature review.","authors":"Youssef Lahmouz, Loubna Elbahri, Aniss Seghrouchni, Jihane Fagouri, Hanae Elghiati, Rania Elazzouzi, Jaouad Nguadi, Meryem Bennani, Abdelilah Benelmekki, Jamal Kheyi, Younes Moutakiallah, Iliasse Asfalou, Hicham Bouzelmat, Ali Chaib, Aatif Benyass","doi":"10.1093/omcr/omae218","DOIUrl":"10.1093/omcr/omae218","url":null,"abstract":"<p><p>A 40-year-old patient with no cardiovascular risk factors was admitted to our center for palpitations with dyspnea involving for 4 months. Clinical exam showed signs of global heart failure. The electrocardiogram showed atrial fibrillation and the chest X-ray revealed right atrial enlargement with left paraventricular calcifications. The diagnosis of constrictive pericarditis (CP) was diagnostic based on echocardiography and cardiac catheterization. Computed tomography (CT) scan chest showed extensive calcifications suggestive of calcific CP. Subsequently, he underwent pericardiectomy, through median sternotomy approach and is currently on follow-up with asymptomatic cardiac status.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae218"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755237","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":"Periungual squamous cell carcinoma in childhood: a case report.","authors":"Marysol Macedo-Pérez, Stefanie Arroyo-Camarena, Rodrigo Roldán-Marín, Sonia Toussaint-Caire, Froylan D Martínez-Sánchez","doi":"10.1093/omcr/omae216","DOIUrl":"10.1093/omcr/omae216","url":null,"abstract":"<p><p>Bowen's disease (BD) is the second most common skin cancer worldwide, often linked to sun exposure, arsenic, and immunosuppression. Though rare in pediatrics, it is the third most common pediatric skin cancer, associated with conditions like albinism and immunosuppression. Recent years have seen an increase in Squamous Cell Carcinoma (SCC) cases among children, potentially related to immunosuppression and human papillomavirus (HPV) infection, particularly subtype 16. We present the case of an 11-year-old girl from Mexico City with a five-year history of a slowly growing, asymptomatic, dark-brown plaque on the periungual region of her right hand. Histopathological examination revealed Pigmented Squamous Cell Carcinoma in situ. The lesion was treated with excision, nail apparatus removal, and adjuvant 5% imiquimod cream, followed by skin grafting. This case underscores the importance of considering malignancy in pediatric patients, particularly with atypical presentations in acral sites, and highlights the diagnostic challenges of pigmented SCC.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 4","pages":"omae216"},"PeriodicalIF":0.5,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755018","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}