Pub Date : 2025-12-01Epub Date: 2025-07-19DOI: 10.1016/j.hmedic.2025.100316
Veronica Salais Michaus , Javier Cervantes-Bojalil , José O. Navarro-Fernández , Edith A. Fernandez-Figueroa , Roberto Herrera-Goepfert , Maria Fernanda Tejada-Pineda , Erika Ruiz-Garcia
Cholangiocarcinoma (CCA) is a heterogeneous disease; the incidence of brain metastases from CCA ranges from 0.15 % to 1.4 %. We present the case of a 50-year-old woman with recurrent extrahepatic cholangiocarcinoma involving the central nervous system (CNS) and improvement in overall survival (OS). Next-Generation Sequencing (NGS) was performed, revealing CCNE1 amplification and a TP53 mutation.
{"title":"Recurrent extrahepatic papillary cholangiocarcinoma with CCNE1 amplification, TP53 mutation and CNS involvement a capecitabine exceptional response case report","authors":"Veronica Salais Michaus , Javier Cervantes-Bojalil , José O. Navarro-Fernández , Edith A. Fernandez-Figueroa , Roberto Herrera-Goepfert , Maria Fernanda Tejada-Pineda , Erika Ruiz-Garcia","doi":"10.1016/j.hmedic.2025.100316","DOIUrl":"10.1016/j.hmedic.2025.100316","url":null,"abstract":"<div><div>Cholangiocarcinoma (CCA) is a heterogeneous disease; the incidence of brain metastases from CCA ranges from 0.15 % to 1.4 %. We present the case of a 50-year-old woman with recurrent extrahepatic cholangiocarcinoma involving the central nervous system (CNS) and improvement in overall survival (OS). Next-Generation Sequencing (NGS) was performed, revealing <em>CCNE1</em> amplification and a <em>TP53</em> mutation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100316"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Haemophilus influenzae type b (Hib) vaccine has significantly reduced invasive Haemophilus influenzae disease (IHD) in Japan, but it has no effect on nontypeable Haemophilus influenzae (NTHi). IHD caused by NTHi remains a common issue among neonates. This report presents a case of neonatal late-onset bacteremia caused by NTHi without typical symptoms such as fever and elevated serum C-reactive protein (CRP) levels. A Japanese girl, born prematurely as the first twin, was hospitalized for lip cyanosis and a cough. Initial hematological and radiological investigations revealed no significant abnormalities except for hypocomplementemia. However, she experienced frequent apneic attacks with bradycardia and cyanosis on the first night. NTHi bacteremia, diagnosed by blood culture was identified in subsequent diagnostic procedures. Clinical improvement was observed with antibiotic treatment, despite afebrile and no elevated CRP levels during hospitalization. Previous reports indicate that late-onset IHD at > 48 h of age is rare with unclear clinical course. This case underscores the importance of considering NTHi as a potential pathogen in neonatal bacteremia, even without typical symptoms like fever and elevated CRP levels. blood samples for culture remain crucial for diagnosing bacteremia, particularly in atypical presentations.
{"title":"Late-onset afebrile neonatal bacteremia due to nontypeable Haemophilus influenzae: A case report","authors":"Wataru Anzai, Yoshitaka Watanabe, Naomi Yagi, Masaki Yamaguchi, Nobuhiro Kawai, Hirokazu Ikeda","doi":"10.1016/j.hmedic.2025.100356","DOIUrl":"10.1016/j.hmedic.2025.100356","url":null,"abstract":"<div><div><em>Haemophilus influenzae</em> type b (Hib) vaccine has significantly reduced invasive <em>Haemophilus influenzae</em> disease (IHD) in Japan, but it has no effect on nontypeable <em>Haemophilus influenzae</em> (NTHi). IHD caused by NTHi remains a common issue among neonates. This report presents a case of neonatal late-onset bacteremia caused by NTHi without typical symptoms such as fever and elevated serum C-reactive protein (CRP) levels. A Japanese girl, born prematurely as the first twin, was hospitalized for lip cyanosis and a cough. Initial hematological and radiological investigations revealed no significant abnormalities except for hypocomplementemia. However, she experienced frequent apneic attacks with bradycardia and cyanosis on the first night. NTHi bacteremia, diagnosed by blood culture was identified in subsequent diagnostic procedures. Clinical improvement was observed with antibiotic treatment, despite afebrile and no elevated CRP levels during hospitalization. Previous reports indicate that late-onset IHD at > 48 h of age is rare with unclear clinical course. This case underscores the importance of considering NTHi as a potential pathogen in neonatal bacteremia, even without typical symptoms like fever and elevated CRP levels. blood samples for culture remain crucial for diagnosing bacteremia, particularly in atypical presentations.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100356"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144925303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We describe a case of a chronic obstructive pulmonary disease patient with stable chronic bronchitis who experienced improved quality of life and reduced symptoms during daily long-term Mucinex® (extended-release guaifenesin) use. Through a validated patient-reported outcome, the cough and sputum assessment questionnaire (CASA-Q), cough impact and symptoms scores showed improvements of 37.5 and 50 points, respectively, at week 11 compared to baseline. Similarly, sputum impact and symptoms scores improved by 37.5 and 41.7 points. While these observations support a potential benefit of adjunctive mucoactive therapy in chronic respiratory conditions, they should be interpreted cautiously and considered hypothesis-generating, highlighting the need for further controlled studies.
{"title":"Adjunctive long-term use of Mucinex® leading to improvement in stable chronic bronchitis and patient’s quality of life: A case report","authors":"Selwyn Spangenthal , Connie Divel , Oktawia Borecka , Samuel Llewellyn","doi":"10.1016/j.hmedic.2025.100384","DOIUrl":"10.1016/j.hmedic.2025.100384","url":null,"abstract":"<div><div>We describe a case of a chronic obstructive pulmonary disease patient with stable chronic bronchitis who experienced improved quality of life and reduced symptoms during daily long-term Mucinex® (extended-release guaifenesin) use. Through a validated patient-reported outcome, the cough and sputum assessment questionnaire (CASA-Q), cough impact and symptoms scores showed improvements of 37.5 and 50 points, respectively, at week 11 compared to baseline. Similarly, sputum impact and symptoms scores improved by 37.5 and 41.7 points. While these observations support a potential benefit of adjunctive mucoactive therapy in chronic respiratory conditions, they should be interpreted cautiously and considered hypothesis-generating, highlighting the need for further controlled studies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100384"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145362209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-08-06DOI: 10.1016/j.hmedic.2025.100338
Chowdhury Adnan Sami , Mohammad Ferdous Ur Rahaman , Rafsana , Shohael Mahmud Arafat , Md Nazmul Hasan
Takayasu arteritis (TA) is a chronic large vessel vasculitis that typically targets the major vessels of our body, like the aorta and its branches. Infarction of the lateral medullatermed lateral medullary syndrome, is a rare presenting feature of TA. Our report presents a 29-year-old female who was diagnosed with TA, but her presentation was a rare early manifestation of TA, presenting with lateral medullary syndrome. She came to the hospital with gradually worsening vertigo, partial ptosis, dysphagia, contralateral sensory loss, and gait instability over a period of hours. On initial physical examination, her pulse and blood pressure were missing on the left upper limb. An Imaging test, which showed significant left vertebral artery stenosis and ischemic infarction in the lateral medulla. Further tests like erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were raised, while the autoimmune panel and the coagulation panel results were negative. Diagnosis of TA was made, and treatment was started for TA with steroids and methotrexate and for stroke with aspirin and atorvastatin. Treatment showed significant improvement in symptoms within the two months of strict compliance. This case emphasizes the importance of early diagnosis and thorough treatment in young TA patients who present with rare ischemic events.
{"title":"Takayasu Arteritis presenting with stroke: A case of lateral medullary syndrome in a 29-year-old female","authors":"Chowdhury Adnan Sami , Mohammad Ferdous Ur Rahaman , Rafsana , Shohael Mahmud Arafat , Md Nazmul Hasan","doi":"10.1016/j.hmedic.2025.100338","DOIUrl":"10.1016/j.hmedic.2025.100338","url":null,"abstract":"<div><div>Takayasu arteritis (TA) is a chronic large vessel vasculitis that typically targets the major vessels of our body, like the aorta and its branches. Infarction of the lateral medullatermed lateral medullary syndrome, is a rare presenting feature of TA. Our report presents a 29-year-old female who was diagnosed with TA, but her presentation was a rare early manifestation of TA, presenting with lateral medullary syndrome. She came to the hospital with gradually worsening vertigo, partial ptosis, dysphagia, contralateral sensory loss, and gait instability over a period of hours. On initial physical examination, her pulse and blood pressure were missing on the left upper limb. An Imaging test, which showed significant left vertebral artery stenosis and ischemic infarction in the lateral medulla. Further tests like erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were raised, while the autoimmune panel and the coagulation panel results were negative. Diagnosis of TA was made, and treatment was started for TA with steroids and methotrexate and for stroke with aspirin and atorvastatin. Treatment showed significant improvement in symptoms within the two months of strict compliance. This case emphasizes the importance of early diagnosis and thorough treatment in young TA patients who present with rare ischemic events.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100338"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-11-18DOI: 10.1016/j.hmedic.2025.100394
Achraf Amine Sbai , Saad Bouchlarhem , Drissia Benfadil , Azeddine Lachkar , Fahd El Ayoubi El Idrissi
Primary thyroid lymphoma (PTL) is a rare thyroid malignancy, most often associated with chronic autoimmune thyroiditis. We report the case of a 40-year-old woman with a history of hypothyroidism treated with levothyroxine, who presented with a rapidly enlarging anterior neck mass accompanied by progressive dyspnea, dysphagia, and dysphonia. Physical examination revealed a large, firm goiter fixed to deep planes, with overlying inflammatory skin changes. Laboratory tests showed anemia, lymphocytosis, elevated thyroid-stimulating hormone (TSH), positive anti-thyroid peroxidase (anti-TPO) antibodies, and markedly increased lactate dehydrogenase (LDH). Imaging revealed diffuse thyroid enlargement with mediastinal extension, tracheal deviation, and invasion of the larynx. Due to worsening compressive symptoms, the patient underwent urgent decompressive surgery with intraoperative biopsy. Histopathological and immunohistochemical analysis confirmed the diagnosis of diffuse large B-cell lymphoma (DLBCL) of the thyroid. She received four cycles of R-CHOP chemoimmunotherapy, resulting in rapid clinical improvement and normalization of inflammatory and tumor markers. At 8-month follow-up, the patient remained in remission. This case highlights the importance of considering PTL in the differential diagnosis of rapidly enlarging thyroid masses, particularly in patients with autoimmune thyroid disease. Prompt diagnosis through appropriate histological assessment and early initiation of systemic therapy are critical to improving prognosis and preventing life-threatening airway compromise.
{"title":"Not just a neck mass: Primary thyroid diffuse large B-cell lymphoma","authors":"Achraf Amine Sbai , Saad Bouchlarhem , Drissia Benfadil , Azeddine Lachkar , Fahd El Ayoubi El Idrissi","doi":"10.1016/j.hmedic.2025.100394","DOIUrl":"10.1016/j.hmedic.2025.100394","url":null,"abstract":"<div><div>Primary thyroid lymphoma (PTL) is a rare thyroid malignancy, most often associated with chronic autoimmune thyroiditis. We report the case of a 40-year-old woman with a history of hypothyroidism treated with levothyroxine, who presented with a rapidly enlarging anterior neck mass accompanied by progressive dyspnea, dysphagia, and dysphonia. Physical examination revealed a large, firm goiter fixed to deep planes, with overlying inflammatory skin changes. Laboratory tests showed anemia, lymphocytosis, elevated thyroid-stimulating hormone (TSH), positive anti-thyroid peroxidase (anti-TPO) antibodies, and markedly increased lactate dehydrogenase (LDH). Imaging revealed diffuse thyroid enlargement with mediastinal extension, tracheal deviation, and invasion of the larynx. Due to worsening compressive symptoms, the patient underwent urgent decompressive surgery with intraoperative biopsy. Histopathological and immunohistochemical analysis confirmed the diagnosis of diffuse large B-cell lymphoma (DLBCL) of the thyroid. She received four cycles of R-CHOP chemoimmunotherapy, resulting in rapid clinical improvement and normalization of inflammatory and tumor markers. At 8-month follow-up, the patient remained in remission. This case highlights the importance of considering PTL in the differential diagnosis of rapidly enlarging thyroid masses, particularly in patients with autoimmune thyroid disease. Prompt diagnosis through appropriate histological assessment and early initiation of systemic therapy are critical to improving prognosis and preventing life-threatening airway compromise.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100394"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-11-18DOI: 10.1016/j.hmedic.2025.100396
Kartavya Kumar Verma
Tenosynovial giant cell tumors (TSGCTs) are the second most common type of tumor found on hands after ganglion cysts. In contrast to the painful nature of a ganglion cyst, a TSGCT is painless. It is predominantly benign in nature. Clinically, there are mainly three types of TSGCTs: localized, diffuse, and malignant. Although this is a well-established entity, diagnosis remains challenging and encompasses a wide differential diagnosis. Our aim in reporting this case is to demonstrate how a simple needle injury can mimic this entity and lead to diagnostic dilemmas. To the best of our knowledge, no similar case has been reported in the medical literature. We present the case of 35-year-old female patient who developed localized swelling because of an iatrogenic needle prick that involved a nerve bundle and caused the patient extreme pain. Upon clinical, radiological, and histological examination, this lesion resembled a TSGCTs and led to a misdiagnosis. However, after synthesizing all relevant information, particularly the clinical history of the needle injury, the conclusive diagnosis favors a foreign body giant cell reaction accompanied by granulomatous inflammation. In this case review, we emphasize several key points that differentiate this entity from those in similar differential diagnoses. This case underscores the importance of a multidisciplinary approach to diagnosis, integrating clinical, radiological, and histomorphological features.
{"title":"Challenges in diagnosis: Lesions following needle injury that mimic tenosynovial giant cell tumor","authors":"Kartavya Kumar Verma","doi":"10.1016/j.hmedic.2025.100396","DOIUrl":"10.1016/j.hmedic.2025.100396","url":null,"abstract":"<div><div>Tenosynovial giant cell tumors (TSGCTs) are the second most common type of tumor found on hands after ganglion cysts. In contrast to the painful nature of a ganglion cyst, a TSGCT is painless. It is predominantly benign in nature. Clinically, there are mainly three types of TSGCTs: localized, diffuse, and malignant. Although this is a well-established entity, diagnosis remains challenging and encompasses a wide differential diagnosis. Our aim in reporting this case is to demonstrate how a simple needle injury can mimic this entity and lead to diagnostic dilemmas. To the best of our knowledge, no similar case has been reported in the medical literature. We present the case of 35-year-old female patient who developed localized swelling because of an iatrogenic needle prick that involved a nerve bundle and caused the patient extreme pain. Upon clinical, radiological, and histological examination, this lesion resembled a TSGCTs and led to a misdiagnosis. However, after synthesizing all relevant information, particularly the clinical history of the needle injury, the conclusive diagnosis favors a foreign body giant cell reaction accompanied by granulomatous inflammation. In this case review, we emphasize several key points that differentiate this entity from those in similar differential diagnoses. This case underscores the importance of a multidisciplinary approach to diagnosis, integrating clinical, radiological, and histomorphological features.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100396"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-09-23DOI: 10.1016/j.hmedic.2025.100374
Milan Gaihre , Saket Jha , Rahul Pathak , Sujan Ghimire , Prince Baranawal , Aashish Poudel , Ritika Bhatta
Introduction
If unexplained acute liver injury symptoms imply several overlapping etiologies, diagnostic difficulty can ensue. Less frequent diseases like hepatic sarcoidosis and DRESS syndrome need to be included in differential diagnosis, but drug-induced liver injury and viral hepatitis are frequent etiologies.
Presentation of the case
A 28-year-old woman patient presented with pruritic rash, jaundice, and right upper quadrant pain for one month. Laboratory tests showed eosinophilia (520 cells/μL), hyperbilirubinemia (6.20 mg/dL), hepatocellular injury (AST 401 U/L, ALT 351 U/L), and highly raised ACE levels (216 U/L). Imaging revealed mediastinal lymphadenopathy. The patient's liver enzymes and symptoms significantly improved with corticosteroid treatment.
Discussion
Because DRESS syndrome and hepatic sarcoidosis share clinical and biochemical characteristics, the diagnostic challenge of differentiating between the two conditions is brought about in this case. While temporal drug association and eosinophilia predisposed towards drug hypersensitivity, the raised ACE levels and lymphadenopathy pushed in the direction of granulomatous disease. The shared immune-mediated pathophysiology of the two diseases was emphasized by the steroid response.
Conclusion
In the assessment of acute liver injury with systemic manifestations, this case emphasizes the need to rule out both drug hypersensitivity and granulomatous disease. It draws attention towards the need for improved diagnostic markers while also recognizing the utility of serum ACE testing and imaging in these situations. The case highlights the advantage of interdisciplinary management in difficult hepatology patients and the effectiveness of corticosteroids.
Key clinical message
This case demonstrates the difficulty of making a distinction between hepatic sarcoidosis and drug-induced liver damage in cases where the two diseases mimic each other. Both etiologies must be considered in cases of unexplained acute liver injury with systemic symptoms. Although corticosteroids can be an effective treatment of immune-mediated disease, prolonged follow-up is indicated. Interdisciplinary collaboration enhances the treatment of such complex cases and the validity of diagnoses.
如果不明原因的急性肝损伤症状包含多种重叠的病因，则可能导致诊断困难。不常见的疾病如肝结节病和DRESS综合征需要纳入鉴别诊断，但药物性肝损伤和病毒性肝炎是常见的病因。病例介绍：一名28岁女性患者，表现为瘙痒性皮疹、黄疸和右上腹疼痛一个月。实验室检查显示嗜酸性粒细胞增多（520个细胞/μL），高胆红素血症（6.20 mg/dL），肝细胞损伤（AST 401 U/L, ALT 351 U/L）， ACE水平高升高（216 U/L）。影像学显示纵隔淋巴结病变。患者的肝酶和症状在皮质类固醇治疗后明显改善。由于DRESS综合征和肝结节病具有相同的临床和生化特征，因此在本病例中对两种疾病的鉴别诊断带来了挑战。虽然颞叶药物关联和嗜酸性粒细胞增多倾向于药物过敏，但ACE水平升高和淋巴结病变推动了肉芽肿疾病的发展。类固醇反应强调了这两种疾病的共同免疫介导的病理生理学。结论在评估有全身性表现的急性肝损伤时，本病例强调应同时排除药物过敏和肉芽肿性疾病。它提请注意需要改进的诊断标记，同时也认识到在这些情况下血清ACE测试和成像的效用。该病例突出了在肝病困难患者中跨学科管理的优势和皮质类固醇的有效性。本病例表明，在肝结节病和药物性肝损害相似的情况下，很难区分这两种疾病。两种病因必须考虑的情况下，不明原因的急性肝损伤的全身性症状。虽然皮质类固醇可以有效治疗免疫介导性疾病，但需要延长随访时间。跨学科的合作提高了这种复杂病例的治疗和诊断的有效性。
{"title":"A diagnostic dilemma: Differentiating hepatic sarcoidosis from DRESS syndrome in a patient with acute liver injury","authors":"Milan Gaihre , Saket Jha , Rahul Pathak , Sujan Ghimire , Prince Baranawal , Aashish Poudel , Ritika Bhatta","doi":"10.1016/j.hmedic.2025.100374","DOIUrl":"10.1016/j.hmedic.2025.100374","url":null,"abstract":"<div><h3>Introduction</h3><div>If unexplained acute liver injury symptoms imply several overlapping etiologies, diagnostic difficulty can ensue. Less frequent diseases like hepatic sarcoidosis and DRESS syndrome need to be included in differential diagnosis, but drug-induced liver injury and viral hepatitis are frequent etiologies.</div></div><div><h3>Presentation of the case</h3><div>A 28-year-old woman patient presented with pruritic rash, jaundice, and right upper quadrant pain for one month. Laboratory tests showed eosinophilia (520 cells/μL), hyperbilirubinemia (6.20 mg/dL), hepatocellular injury (AST 401 U/L, ALT 351 U/L), and highly raised ACE levels (216 U/L). Imaging revealed mediastinal lymphadenopathy. The patient's liver enzymes and symptoms significantly improved with corticosteroid treatment.</div></div><div><h3>Discussion</h3><div>Because DRESS syndrome and hepatic sarcoidosis share clinical and biochemical characteristics, the diagnostic challenge of differentiating between the two conditions is brought about in this case. While temporal drug association and eosinophilia predisposed towards drug hypersensitivity, the raised ACE levels and lymphadenopathy pushed in the direction of granulomatous disease. The shared immune-mediated pathophysiology of the two diseases was emphasized by the steroid response.</div></div><div><h3>Conclusion</h3><div>In the assessment of acute liver injury with systemic manifestations, this case emphasizes the need to rule out both drug hypersensitivity and granulomatous disease. It draws attention towards the need for improved diagnostic markers while also recognizing the utility of serum ACE testing and imaging in these situations. The case highlights the advantage of interdisciplinary management in difficult hepatology patients and the effectiveness of corticosteroids.</div></div><div><h3>Key clinical message</h3><div>This case demonstrates the difficulty of making a distinction between hepatic sarcoidosis and drug-induced liver damage in cases where the two diseases mimic each other. Both etiologies must be considered in cases of unexplained acute liver injury with systemic symptoms. Although corticosteroids can be an effective treatment of immune-mediated disease, prolonged follow-up is indicated. Interdisciplinary collaboration enhances the treatment of such complex cases and the validity of diagnoses.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100374"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-11-19DOI: 10.1016/j.hmedic.2025.100388
Zoungrana Jacques , Somé Dogbèponé , Da Léa , Lankoande Diagniagou , Kabore D. Odilon , Sougue Yaya , Diallo Ismaël , Ouédraogo Abdoul Salam , Poda Armel
Tetanus is a disease characterized by generalized muscle contractures and can be potentially serious, especially in tropical environments where it requires specialized care. Mortality is often associated with neurovegetative and infectious complications. Thrombotic and bacteremic complications are exceedingly rare in this disease, and to our knowledge, their association with generalized tetanus has not been previously described. We present a case of generalized tetanus complicated by venous thrombosis of the left leg and E. coli bacteremia.
{"title":"Bacteremia and venous thrombosis of the lower limb complicating a case of acute generalized tetanus","authors":"Zoungrana Jacques , Somé Dogbèponé , Da Léa , Lankoande Diagniagou , Kabore D. Odilon , Sougue Yaya , Diallo Ismaël , Ouédraogo Abdoul Salam , Poda Armel","doi":"10.1016/j.hmedic.2025.100388","DOIUrl":"10.1016/j.hmedic.2025.100388","url":null,"abstract":"<div><div>Tetanus is a disease characterized by generalized muscle contractures and can be potentially serious, especially in tropical environments where it requires specialized care. Mortality is often associated with neurovegetative and infectious complications. Thrombotic and bacteremic complications are exceedingly rare in this disease, and to our knowledge, their association with generalized tetanus has not been previously described. We present a case of generalized tetanus complicated by venous thrombosis of the left leg and <em>E. coli</em> bacteremia.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100388"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-07-31DOI: 10.1016/j.hmedic.2025.100336
Roberta Bonomo , Antonio E. Elia , Giulio Bonomo , Guglielmo Iess , Giuseppe M.V. Barbagallo , Paolo Ferroli , Gennaro Bussone
Spinocerebellar ataxias encompass a group of hereditary ataxias notable for their degenerative changes in the cerebellum, brainstem, and spinal cord. This case study details the clinical course of a 42-year-old male presenting with an ataxic-spastic syndrome, harboring a homozygous variant in the SYNE1 gene, classically associated with Autosomal Recessive Spinocerebellar Ataxia type 8 (SCAR8), who also exhibited unusual bilateral thalamic and midbrain hyperintensities. While the significance of this imaging finding remains unclear, it raises the question of whether it represents a rare manifestation of SYNE1-related ataxic-spastic syndrome or an incidental, unrelated observation. The patient's condition deteriorated progressively, characterized by a relevant decline in motor functions and speech articulation, prompting further neurological evaluation and psychomotor rehabilitation. This case underscores the importance of prioritizing detailed clinical assessment while cautiously integrating genetic findings, particularly when variants are of uncertain relevance, in atypical presentations of ataxia. It also highlights the need for continued research into the broader phenotypic spectrum, pathogenic mechanisms, and potential targeted therapies.
{"title":"Atypical ataxic-spastic syndrome with SYNE1 variant association: Coincidence or contribution?","authors":"Roberta Bonomo , Antonio E. Elia , Giulio Bonomo , Guglielmo Iess , Giuseppe M.V. Barbagallo , Paolo Ferroli , Gennaro Bussone","doi":"10.1016/j.hmedic.2025.100336","DOIUrl":"10.1016/j.hmedic.2025.100336","url":null,"abstract":"<div><div>Spinocerebellar ataxias encompass a group of hereditary ataxias notable for their degenerative changes in the cerebellum, brainstem, and spinal cord. This case study details the clinical course of a 42-year-old male presenting with an ataxic-spastic syndrome, harboring a homozygous variant in the <em>SYNE1</em> gene, classically associated with Autosomal Recessive Spinocerebellar Ataxia type 8 (SCAR8), who also exhibited unusual bilateral thalamic and midbrain hyperintensities. While the significance of this imaging finding remains unclear, it raises the question of whether it represents a rare manifestation of <em>SYNE1</em>-related ataxic-spastic syndrome or an incidental, unrelated observation. The patient's condition deteriorated progressively, characterized by a relevant decline in motor functions and speech articulation, prompting further neurological evaluation and psychomotor rehabilitation. This case underscores the importance of prioritizing detailed clinical assessment while cautiously integrating genetic findings, particularly when variants are of uncertain relevance, in atypical presentations of ataxia. It also highlights the need for continued research into the broader phenotypic spectrum, pathogenic mechanisms, and potential targeted therapies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100336"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-01Epub Date: 2025-08-19DOI: 10.1016/j.hmedic.2025.100346
A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou
Background
Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.
Case summary
We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.
Conclusion
This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.
{"title":"Mucinous carcinoma of the breast: A case report and comprehensive literature review","authors":"A. Khallaf , M. Oussafi , H. Ouazzani , I. Chaouche , A. Akammar , N. EL Bouardi , B. Alami , MY. Alaoui Lamrani , M. Maaroufi , M. Boubbou","doi":"10.1016/j.hmedic.2025.100346","DOIUrl":"10.1016/j.hmedic.2025.100346","url":null,"abstract":"<div><h3>Background</h3><div>Mucinous carcinoma is a rare histologic subtype of breast cancer, accounting for 1–4 % of all cases. It predominantly affects older women and generally presents a favorable prognosis compared to other invasive breast cancers.</div></div><div><h3>Case summary</h3><div>We report the case of a 54-year-old woman presenting with a slowly enlarging right breast mass. Clinical and imaging examinations revealed a lobulated lesion in the lower outer quadrant of the right breast. Core needle biopsy confirmed the diagnosis of grade II mucinous carcinoma. The patient underwent mastectomy with sentinel lymph node biopsy, which was negative for metastasis. Histopathological examination confirmed a pure mucinous carcinoma. Postoperatively, the patient was referred for adjuvant radiotherapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the importance of correlating imaging and histological features to ensure timely diagnosis of mucinous carcinoma and underscores its generally favorable outcome when appropriately managed.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100346"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144865319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号