Journal of Medical Case Reports最新文献

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Misdiagnosis of diabetic ketoacidosis: a case report. 糖尿病酮症酸中毒误诊1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-16 DOI: 10.1186/s13256-025-05478-7
Minghe Zhang, Jian Li, Lianhui Fan, Hongtao Liu
{"title":"Misdiagnosis of diabetic ketoacidosis: a case report.","authors":"Minghe Zhang, Jian Li, Lianhui Fan, Hongtao Liu","doi":"10.1186/s13256-025-05478-7","DOIUrl":"10.1186/s13256-025-05478-7","url":null,"abstract":"<p><strong>Background: </strong>Abdominal pain caused by diabetic ketoacidosis is uncommon and can easily be misdiagnosed as abdominal pain caused by ureteral stones.This case highlights the importance of distinguishing between these etiologies, particularly in patients with diabetes, as delayed recognition of diabetic ketoacidosis can result in life-threatening complications. The novelty lies in emphasizing the diagnostic challenges and the necessity for clinicians to consider diabetic ketoacidosis even when imaging suggests alternative causes.</p><p><strong>Case presentation: </strong>This case report describes a 59-year-old Han female patient who was admitted to the hospital for \"generalized abdominal pain without obvious cause for 3 days\" and was diagnosed with left ureteral stones. Initial imaging revealed a left ureteral stone and hydronephrosis, prompting ureteral stent placement. Despite antispasmodics, analgesics, and stent insertion, her pain persisted. Diabetic ketoacidosis was subsequently confirmed through laboratory tests. Following comprehensive systemic treatment, metabolic parameters were successfully normalized, and the patient recovered and was discharged from the hospital.</p><p><strong>Conclusion: </strong>The mechanisms and treatment approaches for abdominal pain caused by ketoacidosis and ureteral stones differ significantly. Clinicians treating abdominal pain in patients with a history of diabetes should consider the possibility of ketoacidosis-induced abdominal pain, especially when conventional antispasmodic and analgesic treatments for ureteral stones are ineffective. Prompt identification of diabetic ketoacidosis via comprehensive clinical assessment and laboratory investigations is crucial to avoid delays in appropriate treatment. Enhanced recognition of the overlapping symptoms between diabetic ketoacidosis and ureteral stones can minimize diagnostic errors and lead to better patient outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"409"},"PeriodicalIF":0.8,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12358059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862284","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
Urethral foreign body insertion for symptom relief: a case report. 尿道异物插入缓解症状1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-16 DOI: 10.1186/s13256-025-05493-8
Wenhao Hu, Tao Xu, Weifeng Yu, Along Zhong, Qianlei Zheng
{"title":"Urethral foreign body insertion for symptom relief: a case report.","authors":"Wenhao Hu, Tao Xu, Weifeng Yu, Along Zhong, Qianlei Zheng","doi":"10.1186/s13256-025-05493-8","DOIUrl":"10.1186/s13256-025-05493-8","url":null,"abstract":"<p><strong>Background: </strong>Urethral foreign body insertion is a rare and challenging clinical condition often associated with significant morbidity. Previous reports have highlighted motivations such as sexual gratification or psychiatric disorders. However, this case report uniquely focuses on a less-discussed motivation: the alleviation of physical discomfort from prior trauma.</p><p><strong>Case presentation: </strong>A 64 year-old Han male patient presented to the emergency department with urinary retention and dysuria. He had inserted magnetic beads into his urethra to relieve perineal discomfort caused by prior trauma. After being unable to remove the beads using his usual method, he sought medical assistance. A multidisciplinary approach involving urologists, psychologists, and acupuncturists was employed. The beads were successfully removed through endoscopic procedures and a suprapubic bladder incision. The patient also received acupuncture for pain relief and psychological counseling to address underlying motivations and develop healthier coping strategies.</p><p><strong>Conclusion: </strong>This case emphasizes the importance of a comprehensive and empathetic approach to managing urethral foreign body cases, considering each patient's unique circumstances and motivations. It also underscores the risks of self-treatment on the basis of unverified online information, particularly in vulnerable populations. Further research and education are needed to address the impact of online misinformation on self-treatment behaviors and to develop more effective interventions for at-risk individuals.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"408"},"PeriodicalIF":0.8,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862285","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
Langerhans cell histiocytosis present in a 1-day-old girl: a case report. 朗格汉斯细胞组织细胞增多症1日龄女童一例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-15 DOI: 10.1186/s13256-025-05485-8
Yang Meng
{"title":"Langerhans cell histiocytosis present in a 1-day-old girl: a case report.","authors":"Yang Meng","doi":"10.1186/s13256-025-05485-8","DOIUrl":"10.1186/s13256-025-05485-8","url":null,"abstract":"<p><strong>Background: </strong>Langerhans cell histiocytosis is a rare condition characterized by diverse clinical manifestations, ranging from cutaneous lesions to systemic involvement. Although Langerhans cell histiocytosis occurs infrequently in newborns, its diagnosis during this period presents significant challenges.</p><p><strong>Case presentation: </strong>A 1-day-old Chinese female infant presented with multiple red papules at birth and was diagnosed with Langerhans cell histiocytosis following a second skin biopsy. Despite symptomatic treatment, the child experienced recurrent fever and gastrointestinal bleeding. Tafinlar treatment was initiated at 2 months of age, which improved her symptoms.</p><p><strong>Conclusion: </strong>Prompt identification of Langerhans cell histiocytosis in newborns remains challenging owing to the disease's complexity and varied clinical manifestations; thus, it is essential to advance pathological technologies for Langerhans cell histiocytosis detection.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"406"},"PeriodicalIF":0.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859224","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
Gelatinous pleural effusion in advanced lung adenocarcinoma: a case report. 晚期肺腺癌伴凝胶性胸腔积液1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-15 DOI: 10.1186/s13256-025-05427-4
Jacob Sutton, Yisroel Grabie, David Rotblat, Halim El-Hage
{"title":"Gelatinous pleural effusion in advanced lung adenocarcinoma: a case report.","authors":"Jacob Sutton, Yisroel Grabie, David Rotblat, Halim El-Hage","doi":"10.1186/s13256-025-05427-4","DOIUrl":"10.1186/s13256-025-05427-4","url":null,"abstract":"<p><strong>Background: </strong>Gelatinous pleural effusions, a rare subtype of exudative effusions with elevated viscosity due to high hyaluronic acid levels, are often associated with malignancies, particularly malignant pleural mesothelioma and some metastatic cancers. Such effusions present unique challenges in both diagnosis and management due to their thickness, which complicates drainage using standard techniques. This case highlights the clinical significance of recognizing unusual pleural fluid characteristics and employing advanced drainage interventions, particularly in metastatic lung adenocarcinoma. Given their rarity, gelatinous pleural effusions are not widely reported, emphasizing the need for increased awareness of their diagnostic and therapeutic implications.</p><p><strong>Case presentation: </strong>A 46-year-old African American female patient with lung adenocarcinoma was admitted with a re-accumulating pleural effusion that required further intervention. A Pleurex catheter was placed for continuous drainage, revealing a gelatinous, coagulated effusion that resisted standard drainage techniques. An initial 250 mL of fluid was removed, followed by an additional 1.2 L after intrapleural hyaluronidase was administered to break down the viscosity. Cytology confirmed the presence of malignant cells, positive for CK-7 and TTF-1, and negative for calretinin, Ber-EP4, and CK-20, supporting the diagnosis of primary lung adenocarcinoma. Despite successful fluid removal, imaging indicated a trapped lung, preventing full re-expansion of the pleural space. The patient's care was transitioned to home management with intermittent Pleurex catheter drainage and palliative care support, with plans for outpatient follow-up and ongoing monitoring.</p><p><strong>Conclusions: </strong>This case underscores the complexities associated with managing gelatinous pleural effusions, particularly in the context of malignancy. The patient's palliative management, including the use of an indwelling pleural catheter, highlights the focus on symptom relief in advanced disease stages. Recognizing gelatinous pleural effusions as a potential diagnostic indicator, particularly in patients with malignancies, can facilitate timely interventions that may improve quality of life. Continued research and clinical awareness are essential to optimize diagnostic approaches and treatment options for these rare, challenging effusions.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"407"},"PeriodicalIF":0.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859223","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
Pulmonary paragonimiasis presenting as massive empyema requiring decortication in an adolescent: a case report. 青少年肺吸虫病表现为需要去皮的巨大脓肿:1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-15 DOI: 10.1186/s13256-025-05464-z
Kyo Jin Jo, Su Eun Park, Jong Myung Park, Joo-Young Na, Sungsu Jung
{"title":"Pulmonary paragonimiasis presenting as massive empyema requiring decortication in an adolescent: a case report.","authors":"Kyo Jin Jo, Su Eun Park, Jong Myung Park, Joo-Young Na, Sungsu Jung","doi":"10.1186/s13256-025-05464-z","DOIUrl":"10.1186/s13256-025-05464-z","url":null,"abstract":"<p><strong>Introduction: </strong>Pulmonary paragonimiasis is a parasitic infection caused by lung flukes of the Paragonimus genus, primarily acquired by consuming raw or undercooked freshwater crustaceans. Despite improvements in sanitation, paragonimiasis, once widespread in Asia, remains a concern due to its potential for re-emergence in endemic regions such as Korea. The infection typically begins when metacercariae are ingested, excyst in the intestine, and migrate to the lungs, causing pleuritis and pneumonia. However, large empyema cases associated with paragonimiasis, especially in pediatric patients, are exceedingly rare.</p><p><strong>Case presentation: </strong>A 14-year-old Korean adolescent presented to the emergency clinic with dyspnea, cough, and blood-tinged sputum. Her symptoms had worsened over 5 months, and she had recently developed a fever. Physical examination revealed decreased breath sounds in the left lung, and chest computed tomography revealed a small cavitary nodule and a collapsed left lung with massive pleural effusion displacing the mediastinum. The pleural fluid was turbid and yellowish, indicative of empyema. Laboratory tests indicated eosinophilia with an absolute eosinophil count of 970 cells/μL, and further investigation confirmed pulmonary paragonimiasis through the detection of Paragonimus eggs in bronchoalveolar lavage fluid. Oral praziquantel was administered, but residual atelectasis necessitated video-assisted thoracic surgery for decortication. Histopathology confirmed Paragonimus eggs in pleural tissue, and lung function improved postsurgery.</p><p><strong>Conclusion: </strong>Due to recent improvements in sanitation, cases of pulmonary paragonimiasis in the pediatric population progressing to surgical decortication are extremely rare. This case highlights the importance of considering parasitic infections in children with cavitary lung lesions, particularly in endemic regions. Despite significant reductions in the prevalence of paragonimiasis, clinicians must remain vigilant, especially in patients with a history of consuming freshwater crustaceans. Effective treatment with praziquantel and, in severe cases, surgical decortication can lead to successful outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"405"},"PeriodicalIF":0.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859225","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
Total intravenous-opioid-free anesthesia/analgesia (OFAA) for a morbid obese patient with a body mass index of 99 kg/m2 undergoing gastric bypass: a case report. 全静脉无阿片类药物麻醉/镇痛(OFAA)治疗体重指数为99 kg/m2的病态肥胖患者行胃旁路术1例
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-15 DOI: 10.1186/s13256-025-05484-9
Adriana Bataller Bassols, Dayana Quintero Moreno, Yerlin-Andrés Colina Vargas, Jesús Santaliestra Fierro, Eloymar Rivero Novoa, Carlos Ballesta, Carlos Ramirez-Paesano
{"title":"Total intravenous-opioid-free anesthesia/analgesia (OFAA) for a morbid obese patient with a body mass index of 99 kg/m<sup>2</sup> undergoing gastric bypass: a case report.","authors":"Adriana Bataller Bassols, Dayana Quintero Moreno, Yerlin-Andrés Colina Vargas, Jesús Santaliestra Fierro, Eloymar Rivero Novoa, Carlos Ballesta, Carlos Ramirez-Paesano","doi":"10.1186/s13256-025-05484-9","DOIUrl":"10.1186/s13256-025-05484-9","url":null,"abstract":"<p><strong>Background: </strong>Bariatric surgery has been established as an effective intervention for weight reduction and the improvement of comorbidities. In this context, the use of opioid-free anesthesia with multimodal analgesia is gaining importance because of its ability to minimize respiratory complications and other opioid-related adverse effects in these patients. In the reviewed literature we found no reports of the use of opioid-free anesthesia/analgesia with total intravenous anesthesia based on propofol/lidocaine/ketamine/dexmedetomidine in bariatric surgery for patients with morbid obesity with a body mass index greater than 60 kg/m<sup>2</sup>.</p><p><strong>Case presentation: </strong>The anesthetic management of a 50-year-old white-Hispanic female patient was documented. The patient suffered from morbid obesity with weight 260 kg, height 1.62 m, and a body mass index of 99 kg/m<sup>2</sup>. She was American Society of Anesthesiologists III with obesity hypoventilation syndrome, and chronic heart failure.The patient was scheduled for laparoscopic gastric bypass. Opioid-free anesthesia/analgesia was performed via total intravenous anesthesia based on propofol and standard multimodal analgesia. Low-dose infusions of lidocaine, ketamine, and dexmedetomidine were continued for 48 hours. The patient had a good level of satisfaction during the postoperative period, without the need for postoperative rescue opioids. There was effective pain control (VAS < 3) and an absence of postoperative nausea and vomiting. No respiratory, cardiovascular, or gastric complications were observed during the hospital stay, and she was discharged on the eleventh postoperative day, indicating a high level of satisfaction without complications or adverse effects.</p><p><strong>Conclusions: </strong>This case shows that opioid-free anesthesia/analgesia can be feasible and safe. The mandatory use of anesthetic depth monitoring together with the validation of target-control infusion models for propofol in obese patients are both recommended to facilitate the more frequent use of total intravenous anesthesia-target-control infusion in this population.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"404"},"PeriodicalIF":0.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12357405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859226","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
Diabetes insipidus as a presentation of lung adenocarcinoma: a case report. 尿崩症为肺腺癌的表现:1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-13 DOI: 10.1186/s13256-025-05420-x
Maryam Alsadat Tabatabaei, Reza Manouchehri Ardakani
{"title":"Diabetes insipidus as a presentation of lung adenocarcinoma: a case report.","authors":"Maryam Alsadat Tabatabaei, Reza Manouchehri Ardakani","doi":"10.1186/s13256-025-05420-x","DOIUrl":"10.1186/s13256-025-05420-x","url":null,"abstract":"<p><strong>Background: </strong>Paraneoplastic syndromes are rare complications associated with malignancies, and central diabetes insipidus represents one of their uncommon manifestations. Central diabetes insipidus is most frequently observed in association with specific malignancies, such as lung cancer, and often results from metastatic involvement of the pituitary gland and the sellar region.</p><p><strong>Case presentation: </strong>A 50-year-old Iranian male presented to the hospital with complaints of polyuria and polydipsia, which had begun 20 days prior to admission. Initial outpatient evaluation revealed a urine specific gravity of 1.008 and a serum sodium level of 148 mEq/L. Upon hospital admission, physical examination provided limited diagnostic information, and the patient's vital signs were stable. Desmopressin nasal spray was initiated, leading to a marked improvement in symptoms, supporting a presumptive diagnosis of central diabetes insipidus. Brain magnetic resonance imaging was subsequently performed, which showed no abnormalities in the pituitary gland or adjacent structures. However, lesions were identified in the right rectus gyrus and left occipital lobe. Further evaluation with chest computed tomography and transbronchial lung biopsy confirmed a diagnosis of lung adenocarcinoma. Despite receiving platinum-based chemotherapy, the patient did not respond to treatment and ultimately succumbed to the illness.</p><p><strong>Conclusion: </strong>Clinicians should maintain a high index of suspicion for paraneoplastic syndromes when encountering a sudden onset of rare clinical conditions, such as central diabetes insipidus. Early recognition of these manifestations can facilitate timely cancer diagnosis and prompt initiation of appropriate therapy.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"403"},"PeriodicalIF":0.8,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144847141","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
Babesiosis-induced warm autoimmune hemolytic anemia, from infection to hemolysis: a case report. 巴贝虫病引起的温热自身免疫性溶血性贫血,从感染到溶血:1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-11 DOI: 10.1186/s13256-025-05466-x
Jenna Davison, Jonah Kan, Jennifer Gile, Ubenthira Patgunarajah, Jeffry Degenhardt, Ronald Go, Jithma P Abeykoon
{"title":"Babesiosis-induced warm autoimmune hemolytic anemia, from infection to hemolysis: a case report.","authors":"Jenna Davison, Jonah Kan, Jennifer Gile, Ubenthira Patgunarajah, Jeffry Degenhardt, Ronald Go, Jithma P Abeykoon","doi":"10.1186/s13256-025-05466-x","DOIUrl":"10.1186/s13256-025-05466-x","url":null,"abstract":"<p><strong>Background: </strong>Warm autoimmune hemolytic anemia is characterized by destruction of red blood cells mediated by autoantibodies, which can be triggered by various underlying factors including tick-borne infections. Babesia spp. are protozoan parasites transmitted by tick bites that cause babesiosis and have been increasingly recognized as a potential precipitating factor for warm autoimmune hemolytic anemia.</p><p><strong>Case presentation: </strong>This was a retrospective review of a single case where patient information was extracted from the electronic medical records after written informed consent was obtained. A literature review was also performed. We present a rare case of a 71-year-old White, non-Hispanic/Latino male patient with babesiosis and concurrent warm autoimmune hemolytic anemia. The patient initially presented with fever, chills, and anemia. A tick-borne illness panel was positive for Babesia microti. Despite therapy with doxycycline, azithromycin, and atovaquone, the hemoglobin continued to decline. This prompted investigation for autoimmune hemolytic anemia. A direct antiglobulin test revealed weak positivity for immunoglobulin G. After treatment with high-dose prednisone, the patient's hemoglobin gradually improved, and his liver enzymes normalized.</p><p><strong>Conclusions: </strong>Given the increasing prevalence of tick-borne illnesses, physicians should have a high index of suspicion for concurrent warm autoimmune hemolytic anemia in patients with babesiosis and anemia not improving with typical therapies. In addition, the interplay between babesiosis and warm autoimmune hemolytic anemia underscores the need for clinicians to consider infectious etiologies in the workup of this disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"400"},"PeriodicalIF":0.8,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12337370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821594","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
Incidental diagnosis of Bardet-Biedl syndrome in a case of abdominal tuberculosis: a case report. 腹部结核偶然诊断Bardet-Biedl综合征1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-11 DOI: 10.1186/s13256-025-05455-0
Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh
{"title":"Incidental diagnosis of Bardet-Biedl syndrome in a case of abdominal tuberculosis: a case report.","authors":"Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh","doi":"10.1186/s13256-025-05455-0","DOIUrl":"10.1186/s13256-025-05455-0","url":null,"abstract":"<p><strong>Background: </strong>Bardet-Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem involvement and presents with a variety of phenotypes.</p><p><strong>Case presentation: </strong>A 30-year-old adult male patient, Indian by ethnicity, presented with a 2-week history of ascites and dyspnea. The ascitic fluid analysis confirmed abdominal tuberculosis. However, the patient showed other symptoms and signs of a syndromic nature. The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. Examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver functional tests, renal function tests, lipid profile, and ultrasonography of the abdomen were abnormal. Beales diagnostic criteria confirmed Bardet-Biedl syndrome. The patient was treated for abdominal tuberculosis, and psychosocial support and nutritional counseling were provided.</p><p><strong>Conclusion: </strong>Effective treatment of Bardet-Biedl syndrome requires genetic counseling and a personalized care plan that includes a multidisciplinary team, regular monitoring, and supportive services such as neuropsychological and psychiatric care and family support. This case also increases clinicians' awareness of the presentation of Bardet-Biedl syndrome and the diagnosis in settings without advanced diagnostic modalities.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"402"},"PeriodicalIF":0.8,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821575","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
Malignant melanoma of the conjunctiva metastatic to the parotid gland: a case report. 结膜恶性黑色素瘤转移至腮腺:1例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2025-08-11 DOI: 10.1186/s13256-025-05472-z
Marta Rogalska, Pawel Scierski, Marta Gamrot-Wrzol, Maciej Misiolek, Wojciech Scierski
{"title":"Malignant melanoma of the conjunctiva metastatic to the parotid gland: a case report.","authors":"Marta Rogalska, Pawel Scierski, Marta Gamrot-Wrzol, Maciej Misiolek, Wojciech Scierski","doi":"10.1186/s13256-025-05472-z","DOIUrl":"10.1186/s13256-025-05472-z","url":null,"abstract":"<p><strong>Background: </strong>Most malignant melanomas occurring in the parotid gland are presumed to be of metastatic origin from cutaneous, sporadically mucosal, or ocular primary sites in the head and neck region. We present an unusual case of a patient with a history of conjunctival malignant melanoma and subsequent metastasis to the parotid gland.</p><p><strong>Case presentation: </strong>A 39-year-old East Slavic male patient presented with a 6-month history of a gradually enlarging, painless swelling of the left preauricular area. The clinical examination disclosed a firm, hardly movable mass over the central part of the left parotid gland with no overlying skin changes. Fine-needle aspiration biopsy revealed a cytological image of a nonepithelial malignant tumor. Collecting a thorough past medical history unveiled that the patient underwent the surgical excision of the ipsilateral conjunctival nevus a few years earlier, with subsequent lesion recurrence and transformation into conjunctival malignant melanoma, treated with a wide local excision and an oral mucosa transplant. No signs of local melanoma recurrence or distant metastases were observed at the time of presentation. Left-sided total parotidectomy with the subsequent ipsilateral neck dissection was performed. Histopathological examination revealed melanoma metastasis to the intraparotid lymph node without extranodal extension. The patient was then qualified for adjuvant immunotherapy and remained disease-free at the 8-month follow-up.</p><p><strong>Conclusion: </strong>In the case of a suspected malignancy within the parotid gland, exhaustive medical history taking and analysis of the patient's previous photographs might direct to the malignant melanoma diagnosis. The high potential for regional and distant metastasis in individuals with conjunctival malignant melanoma underscores the significance of ongoing research to enhance the understanding of its biological behavior and develop a standardized algorithm for its management and surveillance.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"401"},"PeriodicalIF":0.8,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821576","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}
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