Case Reports in Medicine最新文献

{"title":"Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.","authors":"Intissar Haddiya, Sara Ramdani, Aymane Kadi, Imane Machmachi, Mohammed Benabdelhak, Yassamine Bentata","doi":"10.1155/carm/2647228","DOIUrl":"10.1155/carm/2647228","url":null,"abstract":"<p><p><b>Background:</b> Gitelman syndrome is a rare autosomal recessive renal tubulopathy, characterized by hypomagnesemia, hypokalemia, hypochloremia, and metabolic alkalosis. The syndrome commonly presents with symptoms such as fatigue, muscle cramps, and tetany, impacting patients' quality of life. Although genetic confirmation via identification of mutations in the <i>SLC12A3</i> gene is ideal, resource constraints often limit access to these tests, especially in low-resource settings. This study aims to analyze the clinical, biochemical, and familial features of Gitelman syndrome in three patients, highlighting the syndrome's characteristic biochemical abnormalities and discussing the implications of limited genetic testing. <b>Methods:</b> We conducted a comparative analysis of three diagnosed cases of Gitelman syndrome. Clinical presentations, biochemical data (with emphasis on magnesium and potassium levels), and family histories were systematically collected. Due to logistical limitations, genetic testing could not be performed. A comparative evaluation was then undertaken to assess commonalities and differences among the cases. <b>Results:</b> All three patients presented with hallmark clinical features of Gitelman syndrome, including fatigue, muscle cramps, and intermittent tetany. Biochemical evaluation revealed persistent hypokalemia (serum potassium: 1.0-3.1 mmol/L), hypomagnesemia (0.53-0.60 mmol/L), and metabolic alkalosis (HCO₃ ^-: 28-31.5 mmol/L; pH: 7.40-7.45). Urinary electrolyte profiles demonstrated inappropriate renal losses of potassium (54 mmol/24 h), chloride (180-190 mmol/24 h), and sodium (70-120 mmol/24 h). Serum creatinine levels remained within normal limits (7-9.1 mg/L), and parathormone concentrations ranged from 30 to 32 pg/mL. No suggestive clinical signs of Bartter syndrome were observed, and secondary causes such as diuretic use, autoimmune nephropathies, and endocrinopathies were excluded. Family history was negative in two of the three cases, suggesting the potential for de novo mutations or undetected autosomal recessive inheritance. All patients were managed with oral potassium and magnesium supplementation, resulting in notable clinical and biochemical improvement, with follow-up serum potassium ranging from 3.5 to 3.9 mmol/L and magnesium from 0.74 to 1.3 mmol/L. <b>Conclusion:</b> The clinical and biochemical findings in these patients are strongly indicative of Gitelman syndrome, even in the absence of genetic confirmation. This study emphasizes the necessity of a multidisciplinary approach in diagnosing and managing Gitelman syndrome, where biochemical assessments and clinical findings are instrumental. While genetic testing could provide conclusive evidence, effective management through electrolyte supplementation plays a crucial role in improving patients' quality of life.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2647228"},"PeriodicalIF":0.7,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12331411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798293","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":"Secondary Renal Injury and Encephalopathy Syndrome Caused by Systemic Lupus Erythematosus With Overlapping Sjögren's Syndrome in Children: A Case Report.","authors":"Xiao-Ling Li, Chun-Lei Liu, Yan Ma","doi":"10.1155/carm/6921533","DOIUrl":"10.1155/carm/6921533","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are chronic, multisystem disorders. When the two coexist, the manifestations become more complex and diverse, and early diagnosis and treatment are a key to improving the patient prognosis. However, to date, only scarce reports have been published, especially overlap syndrome. We review the diagnosis and treatment process of a case of acute renal injury and encephalopathy syndrome secondary to SLE with overlapping SS to gain a comprehensive understanding of the disease with review of the current literature.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6921533"},"PeriodicalIF":0.7,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12328061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793513","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":"Classic Hodgkin's Lymphoma With Epstein-Barr Viremia and Lymphadenopathy.","authors":"Zulma D Sosa Carcamo, Salvador Alvarez, Joan M Irizarry Alvarado","doi":"10.1155/carm/4599207","DOIUrl":"10.1155/carm/4599207","url":null,"abstract":"<p><p>Hodgkin's lymphoma (HL) is uncommon, and its etiology has been attributed to infectious sources such as Epstein-Barr virus (EBV). Though pathogenesis is not completely understood, studies have revealed that specific viral proteins from EBV conduct the process of HL development. In this report, we will discuss the case of a patient who developed EBV-associated classic HL 15 years after an episode of infectious mononucleosis.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4599207"},"PeriodicalIF":0.7,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12324906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788347","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":"Ewing Sarcoma of the Kidney, a Rare Entity: Case Report.","authors":"Alina Baral, C B Pun, Binita Goyal, Subha Lamichhane","doi":"10.1155/carm/2598222","DOIUrl":"10.1155/carm/2598222","url":null,"abstract":"<p><p>Ewing sarcoma is a small round cell tumor of uncertain differentiation, primarily originating in bone in children and adolescents. Ewing sarcoma of the kidney is a rare occurrence and follows an aggressive course with early metastasis. Herein, we present a case of a 16-year-old male presenting with abdominal pain and lump. He underwent nephrectomy and histopathological diagnosis of small round cell tumor with differential diagnosis of Ewing sarcoma was made which was further confirmed by immunohistochemistry. Thus, Ewing sarcoma must also be taken into consideration while dealing with tumors of the kidney in young age group.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2598222"},"PeriodicalIF":0.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774696","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":"Hypopharyngeal Rupture Following Indirect Neck Trauma due to a Car Accident in a 64-Year-Old Patient: A Case Report.","authors":"Kiana Babaei, Ali Movahedi, Amirsadegh Alimardani","doi":"10.1155/carm/9933178","DOIUrl":"10.1155/carm/9933178","url":null,"abstract":"<p><p><b>Introduction:</b> Hypopharyngeal rupture caused by indirect neck trauma is a rare but potentially life-threatening injury. Delayed diagnosis can lead to severe complications, highlighting the importance of clinical suspicion and appropriate imaging. <b>Case Presentation:</b> A 64-year-old male patient sustained indirect neck trauma following a car accident. He was initially transferred to the hospital with mild symptoms and was discharged. However, a few hours later, he returned to the emergency department with neck pain, odynophagia, and dysphagia. CT imaging revealed evidence of hypopharyngeal rupture accompanied by retropharyngeal emphysema. The patient was managed conservatively with Nil Per Os (NPO), intravenous antibiotics, and the placement of a nasogastric (NG) tube. He achieved full recovery without complications. <b>Conclusion:</b> This case emphasizes the importance of thoroughly evaluating the relationship between clinical complaints and the mechanism of injury in patients with indirect neck trauma. High clinical suspicion, detailed history-taking, and appropriate imaging modalities are crucial for early diagnosis and effective management.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9933178"},"PeriodicalIF":0.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774737","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":"Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report.","authors":"Lan Wang, Yilin Su, Mingshu Mo","doi":"10.1155/carm/5190615","DOIUrl":"10.1155/carm/5190615","url":null,"abstract":"<p><p>Phosphatase and tensin homolog (PTEN), a tumor suppressor gene, is also associated with neurological phenotypes, including macrocephaly, Cowden syndrome, and autism spectrum disorder. We present a 34-year-old Chinese male who complained of recurrent seizures within one year. His occipital frontal circumference was 62.8 cm. Whole-exon sequencing revealed that he carried a heterozygous missense mutation of NM_000314.4:c.4375C > T (p.Met35Val) in PTEN gene. Therefore, heterozygous mutations of c.103A > G in PTEN may increase the risk of macrocephaly with epilepsy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5190615"},"PeriodicalIF":0.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774736","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":"Small-Cell Lung Carcinoma Associated With Cystic Airspaces: A Case Report.","authors":"Hirokazu Touge, Haruki Masui, Mitsuhiro Yamamoto, Tomoyuki Ikeuchi, Tomohiro Sakamoto, Katsuyuki Tomita, Akira Yamasaki","doi":"10.1155/carm/5314337","DOIUrl":"10.1155/carm/5314337","url":null,"abstract":"<p><p>Small-cell lung carcinoma (SCLC) associated with cystic airspaces is rare. We describe the case of a 68-year-old man who was referred to our hospital because of a cystic lesion detected on chest radiography. Initial computed tomography revealed a small nodule abutting the cystic airspace due to paraseptal emphysema in the right lower lobe. Histopathological examination of lymphadenopathy indicated SCLC. Postchemotherapy, recurrence appeared as a thick-walled cystic airspace with an exophytic nodule along the cyst wall, mimicking pneumonia. Additional chemotherapy, but not antibiotic therapy, led to a reduction in the wall thickness and nodules. This case emphasizes unresponsiveness to antibiotic therapy, especially in patients with risk factors, highlighting the diagnostic pitfall that may delay timely cancer treatment.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5314337"},"PeriodicalIF":0.7,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728142","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":"CD103-Negative Hairy Cell Leukemia: A Case Report From University Teaching Hospital, Zambia.","authors":"Natasha Mupeta Kaweme, Sahar Mounir Nagib Butress, Inonge Akekelwa, Sumbukeni Francis Kowa, Hamakwa Muluti Mantina, Charles Kapela Mwandama","doi":"10.1155/carm/7084757","DOIUrl":"10.1155/carm/7084757","url":null,"abstract":"<p><p>Hairy cell leukemia (HCL) is among a group of mature lymphoid B-cell disorders characterized by the identification of hairy cells and a unique genetic profile. Detection of CD103 expression on flow cytometry is the key in enumerating the immunologic score for diagnosing HCL. For a disease that is more prevalent in Caucasians and less common in African populations, we report an unusual case of CD103-negative classical HCL in a 43-year-old African male, who presented with refractory anemia, thrombocytopenia, and splenomegaly. In patients with refractory anemia, it is crucial to consider investigating HCL, as this may influence therapeutic decisions and, consequently, overall patient outcomes.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"7084757"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12274090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673995","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 Rare Case of Hodgkin Lymphoma With Isolated Epitrochlear Lymphadenopathy. Our Experience and Main Differential Diagnosis.","authors":"Laura Cea, Domiziana Santucci, Caterina Bernetti, Lorenzo Nibid, Valeria Tomarchio, Amalia Bruno, Bruno Beomonte Zobel, Rosario Francesco Grasso, Eliodoro Faiella","doi":"10.1155/carm/5548125","DOIUrl":"10.1155/carm/5548125","url":null,"abstract":"<p><p>Hodgkin lymphoma (HL) is a type of lymphoma, characterized by the presence of abnormal Reed-Sternberg cells. It typically affects lymph nodes, generally in the upper body (such as neck, chest, and armpits). It can also involve the spleen, liver, and bone marrow. In the literature, there are sporadic cases of atypical localization of HL. The aim of this article is to report a peculiar case of HL in a 55-year-old male presenting with primary epitrochlear lymphadenopathy as the only localization of disease, also performing a literature review on this atypical presentation. We also summarized the possible underlying malignant pathologies that arise from the soft tissues of the upper limb adjacent to the elbow.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5548125"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12271708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673994","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":"Laparoscopic Management of a Recurrent, Inguinal Hernia Containing Urinary Bladder: A Case Report and Literature Review.","authors":"Abdolreza Mohammadi, Pedram Golmohammadi, Alireza Pakdel, Seyed Mohammad Kazem Aghamir","doi":"10.1155/carm/2076137","DOIUrl":"10.1155/carm/2076137","url":null,"abstract":"<p><p><b>Background:</b> Inguinal hernia is one of the most common causes of surgeries around the world; however, the herniation of the urinary bladder as a recurrence in this region is rare. It can have urinary symptoms with pain and protrusion in the inguinoscrotal region. <b>Case Presentation:</b> We report the case of a 65-year-old Iranian male patient who presented with obstructive urinary symptoms and a reducible protrusion in the right inguinoscrotal region. The patient underwent a successful repairment operation in a laparoscopic manner without any intra- or postoperative complications. Also, here, we review the risk factors, symptoms, and paraclinics that should be noted regarding the inguinal hernia with visceral organ protrusion. <b>Conclusion:</b> Clinicians must be aware of different symptoms of herniated organs in the inguinal region to avoid unwanted complications.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2076137"},"PeriodicalIF":0.8,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12263270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641898","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}