Journal of Medical Case Reports最新文献

筛选
英文 中文
Enormous placenta percreta bleeding in a twin pregnancy: a case report. 双胎妊娠大量perperta胎盘出血1例。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-02 DOI: 10.1186/s13256-025-05256-5
Masoumeh Farahani, Mina Ataei, Banafsheh Mashak, Matineh Nirouei, Maryam Hashemnejad
{"title":"Enormous placenta percreta bleeding in a twin pregnancy: a case report.","authors":"Masoumeh Farahani, Mina Ataei, Banafsheh Mashak, Matineh Nirouei, Maryam Hashemnejad","doi":"10.1186/s13256-025-05256-5","DOIUrl":"https://doi.org/10.1186/s13256-025-05256-5","url":null,"abstract":"<p><strong>Background: </strong>Hemorrhage is the most important cause of death in pregnant mothers around the world. One of the causes of severe and fatal bleeding is placenta percreta, which is not easily controlled despite hysterectomy, due to placental invasion of the pelvic organs, and can cause coagulation disorders and maternal death. In placenta percreta cases, it is impossible to establish hemostasis with the usual methods.</p><p><strong>Case presentation: </strong>The patient was a 34-year-old Gravida 3 Para 2 Living 2 Afghan woman. She had twins at 35 weeks of pregnancy. She was hospitalized due to placenta percreta and urinary retention. The patient was a candidate for emergency cesarean hysterectomy because of the nonreassuing non-stress test of the fetuses. When the hysterectomy was performed, despite the total hysterectomy, severe uncontrollable bleeding continued from the pelvic floor and vaginal cuff. Bilateral hypogastric vessels were ligated, but the bleeding continued, and the hemodynamic status of the patient was deteriorating. Finally, the surgical team decided to pack the pelvis, which saved the patient's life.</p><p><strong>Conclusions: </strong>Packing the vagina and pelvis at the same time in the enormous bleeding in placenta percreta cases is a straightforward and low-cost solution that can save the patient's life.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"206"},"PeriodicalIF":0.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005139","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
Subacute thyroiditis diagnostic challenges in clinical practice: a case report. 亚急性甲状腺炎诊断在临床实践中的挑战:1例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-02 DOI: 10.1186/s13256-025-05210-5
Payman Nasr, Sarah Turkel
{"title":"Subacute thyroiditis diagnostic challenges in clinical practice: a case report.","authors":"Payman Nasr, Sarah Turkel","doi":"10.1186/s13256-025-05210-5","DOIUrl":"https://doi.org/10.1186/s13256-025-05210-5","url":null,"abstract":"<p><strong>Background: </strong>Subacute thyroiditis is often misdiagnosed owing to its nonspecific symptoms, which can mimic other conditions. Accurate diagnosis relies heavily on thorough physical examination and careful interpretation of laboratory tests.</p><p><strong>Case information: </strong>A 53-year-old female of Iranian (Persian) ethnicity was initially misdiagnosed with sinusitis after presenting with persistent anterior neck pain, fever, and worsening fatigue. As her symptoms progressed, she was later diagnosed with pyelonephritis, further delaying the recognition of her underlying condition. After multiple visits, a comprehensive physical examination revealed peripheral vision loss and thyroid tenderness. Laboratory tests eventually confirmed subacute thyroiditis. The patient was treated with a 10-day course of prednisone, resulting in rapid symptom improvement.</p><p><strong>Conclusion: </strong>This case underscores the critical role of a comprehensive physical examination and strategic selection and interpretation of laboratory tests in accurately diagnosing subacute thyroiditis. Early recognition through thorough clinical assessment can help prevent diagnostic delays, unnecessary treatments, and prolonged patient symptoms.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"203"},"PeriodicalIF":0.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006843","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
Regenerative endodontic procedure using Emdogain: a case series. 使用Emdogain的再生牙髓治疗:一个病例系列。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-02 DOI: 10.1186/s13256-025-05199-x
Karime Tavares Lima da Silva, Meire Coelho Ferreira, Renata Grazziotin-Soares, Letícia Gomes Dourado, Claudia de Castro Rizzi Maia, Gisele Rodrigues da Silva, Ceci Nunes Carvalho
{"title":"Regenerative endodontic procedure using Emdogain: a case series.","authors":"Karime Tavares Lima da Silva, Meire Coelho Ferreira, Renata Grazziotin-Soares, Letícia Gomes Dourado, Claudia de Castro Rizzi Maia, Gisele Rodrigues da Silva, Ceci Nunes Carvalho","doi":"10.1186/s13256-025-05199-x","DOIUrl":"10.1186/s13256-025-05199-x","url":null,"abstract":"<p><strong>Background: </strong>Emdogain (Straumann<sup>®</sup> Emdogain<sup>®</sup>, Basel, Switzerland) is an enamel matrix derivative and has an important role in odontogenesis, by potentializing pulp tissue repair and regeneration, as showed in biological studies. Nevertheless, the benefits of using Emdogain as a scaffold in clinical regenerative endodontic procedures has not been demonstrated and is not yet fully understood. The aim of this report was to show three clinical cases that had different preoperative conditions and underwent pulp regenerative procedures under an identical clinical protocol. This report also aimed to show the value of using Emdogain to guide angiogenesis and the healing process by reporting clinical and radiographical results. This is a pioneering study on the use of Emdogain in regenerative endodontic procedures in humans.</p><p><strong>Cases presentation: </strong>This report is a retrospective description of clinical findings from three regenerative treatments conducted under an identical protocol in two appointments using Emdogain as a scaffold. The three young Brazilian patients, aged 8, 8, and 12 years old (one female and two male), are from São Luís city, state of Maranhão. All three patients identify as Pardo ethnicity with brown skin color, come from low-income backgrounds, and had necrotic immature permanent teeth. Quantitative assessments of crown shades of treated teeth were determined with VITA Easyshade® Advance 4.0 spectrophotometer (VITA Zahnfabrik, Bad Sackingen, Germany) at baseline to 24-month follow-up. Self-reported pain was measured using the visual analogue scale (VAS) at the time of treatment (shortly after induction of bleeding into the canal) and at 7 day following the procedure. At 12 months, radiographic lesions were resolved. At 24 months there were apical closures, and the three teeth remained in function without symptomatology or signs of failure. All cases had the root length increased and the dentin wall thickened. One case presented radiographic images suggestive of scattered calcified zones in the root canal lumen.</p><p><strong>Conclusion: </strong>Emdogain may be beneficial as a scaffold in regenerative endodontic procedures. The following outcomes were noted at 24-month follow-up: continuity of root formation, thickening of the root dentin walls, and closure of the root apex.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"205"},"PeriodicalIF":0.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017408","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
Insulin autoimmune syndrome in a patient with vitiligo: a case report and review of literature. 白癜风患者胰岛素自身免疫综合征1例报告及文献复习
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-02 DOI: 10.1186/s13256-025-05219-w
Iraj Heydari, Zohreh Maghsoomi, Neda Hatami, Pedram Soltani
{"title":"Insulin autoimmune syndrome in a patient with vitiligo: a case report and review of literature.","authors":"Iraj Heydari, Zohreh Maghsoomi, Neda Hatami, Pedram Soltani","doi":"10.1186/s13256-025-05219-w","DOIUrl":"https://doi.org/10.1186/s13256-025-05219-w","url":null,"abstract":"<p><strong>Background: </strong>Hirata syndrome is a rare cause of hypoglycemia characterized by high insulin levels and the presence of insulin autoantibodies. This case report aims to introduce Hirata syndrome as a cause of fasting hypoglycemia in a patient with autoimmune diseases, such as vitiligo. Notably, this is the first reported case of insulin autoimmune syndrome in Iran.</p><p><strong>Case presentation: </strong>A 47-year-old Iranian female with no prior history of diabetes but a 10-year history of vitiligo experienced recurrent hypoglycemia symptoms as evidenced by neuroglycopenia and neurological symptoms. Biochemical evaluation revealed fasting hypoglycemia (35 mg/dL), hyperinsulinemia (> 2000 µIU/mL), elevated C-peptide (23 ng/mL), and negative sulfonylurea screening. Imaging studies excluded other causes, such as insulinoma. Considering the high level of insulin autoantibodies, the final diagnosis was insulin autoimmune syndrome. A small, frequent, low carbohydrate diet was considered as the treatment plan to relieve the hypoglycemic symptoms. The patient provided written consent authorizing the utilization of her medical data and the publication of this case study.</p><p><strong>Conclusion: </strong>In patients without diabetes with autoimmune diseases, such as vitiligo, who present with hyperinsulinemic hypoglycemia accompanied by elevated C-peptide levels, insulin autoimmune syndrome can be considered as a diagnosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"204"},"PeriodicalIF":0.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011635","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 gastric glomus tumor with heterochronous liver metastases: a case report and review of the literature. 恶性胃球囊瘤伴异时性肝转移1例报告及文献复习。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-01 DOI: 10.1186/s13256-025-05211-4
Shining Xu, Teng Xu, Yihao Zhi, Feng Dong, Chao Wu, Minhua Zheng
{"title":"Malignant gastric glomus tumor with heterochronous liver metastases: a case report and review of the literature.","authors":"Shining Xu, Teng Xu, Yihao Zhi, Feng Dong, Chao Wu, Minhua Zheng","doi":"10.1186/s13256-025-05211-4","DOIUrl":"https://doi.org/10.1186/s13256-025-05211-4","url":null,"abstract":"<p><strong>Background: </strong>Glomus tumors are mesenchymal tumors originating from the neuromuscular arterial canal or vascular lumen. While most gastric glomus tumors are benign and solitary, rare cases can be malignant and have a poor prognosis. Definitive treatment options remain limited for multifocal metastases, often necessitating salvage therapy.</p><p><strong>Case presentation: </strong>A 36-year-old Han Chinese female patient presented with hematemesis, melena, and syncope persisting for four days. Diagnostic evaluations revealed a malignant gastric glomus tumor, prompting radical resection. During follow-up, radiological imaging identified liver metastases. Subsequent management included radiofrequency ablation and laparoscopic resection of select lesions.</p><p><strong>Conclusions: </strong>Gastric glomus tumors pose diagnostic challenges owing to radiological and pathological features that overlap with gastrointestinal stromal tumors. Immunohistochemistry remains critical for definitive diagnosis. While Folpe's criteria for malignant gastric glomus tumors have limitations, they provide a practical framework. Our findings suggest that surgical resection followed by radiofrequency ablation may offer effective local control for recurrent or metastatic gastric glomus tumors. Further research is warranted to explore targeted therapies based on molecular profiling.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"199"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970305","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
Endodontic management of internal replacement resorption of two maxillary central incisors with the aid of cone-beam computed tomography as the diagnostic tool: a case report and review of literature. 锥束计算机断层扫描诊断两上颌中切牙内置换吸收的根管治疗:1例报告及文献复习。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-01 DOI: 10.1186/s13256-025-05148-8
Fatemeh Eskandari, Safoora Sahebi, Negar Ghorbani Jahandizi, Hossein Mofidi
{"title":"Endodontic management of internal replacement resorption of two maxillary central incisors with the aid of cone-beam computed tomography as the diagnostic tool: a case report and review of literature.","authors":"Fatemeh Eskandari, Safoora Sahebi, Negar Ghorbani Jahandizi, Hossein Mofidi","doi":"10.1186/s13256-025-05148-8","DOIUrl":"https://doi.org/10.1186/s13256-025-05148-8","url":null,"abstract":"<p><strong>Background: </strong>Internal root resorption is an infrequent resorption of dentin and stands among one of the endodontic challenges which comprises two types: internal replacement and inflammatory resorption. Regardless of the location, root resorption does not regress and continues to cause discomfort or sometimes tooth loss if left untreated. Internal replacement resorption is rarer compared with the other type of internal resorption. Regarding the scarcity of internal replacement resorption, the present article reports a case of endodontic management of internal replacement resorption by using NeoPutty mineral trioxide aggregate and cone-beam computed tomography to illustrate and clarify characteristics, diagnosis, possible etiologies, and treatment modalities for internal replacement resorption.</p><p><strong>Case presentation: </strong>A 55-year-old Iranian man was referred for a sinus tract. Periapical radiographs revealed a periradicular lesion and cone-beam computed tomography showed the internal replacement resorption of teeth nos. 8 and 9. The root canal was explored using ultrasonic tips under magnification. Irrigation was done using 2.5% sodium hypochlorite with ultrasonic irrigation. Calcium hydroxide was placed in the root canal for 2 weeks as an intracanal medicament. At the next appointment, after calcium hydroxide removal, the root canal was dried and obturated using NeoPutty mineral trioxide aggregate. At the 2 year follow-up, the teeth were unresponsive to percussion test.</p><p><strong>Conclusion: </strong>Traumatic injuries may lead to internal replacement resorption, which has a progressive nature and urges instant endodontic management. Mineral trioxide aggregate seems to be a promising material for internal replacement resorption. Besides, cone-beam computed tomography and dental operative microscopes can improve the outcome of endodontic therapy in certain challenging cases.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"200"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A single worm-like structure in a urine collection bag: a case report. 尿液收集袋中单个蠕虫状结构:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-01 DOI: 10.1186/s13256-025-05248-5
Frédéric Bloch
{"title":"A single worm-like structure in a urine collection bag: a case report.","authors":"Frédéric Bloch","doi":"10.1186/s13256-025-05248-5","DOIUrl":"10.1186/s13256-025-05248-5","url":null,"abstract":"<p><strong>Background: </strong>The presence of a foreign body resembling a worm in a urine collection bag should lead to etiological investigation, as it may not be a parasite. It is thus important to consider the context and origin of the patient, together with the size, length, appearance, and characteristics of the suspected worm.</p><p><strong>Case presentation: </strong>The presence of an apparently mobile black filament resembling a worm was reported in the urine collection bag of a 77-year-old African male resident of our long-term care facility. We initially suspected a parasitic infection. The description of this foreign body suggested Dioctophyma renale (giant kidney worm); however, the analysis of the sample concluded that it was a blood clot. Its worm-like appearance was due to the tube-like nature of the urethra, causing the blood clot to be squeezed into a worm-like shape.</p><p><strong>Conclusion: </strong>Such presentations can be misleading and may lead to unnecessary concern and investigations. A parasitological analysis can be essential for precise diagnosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"201"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005715","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
Long-term successfully endovascular treatment of a complicated Takayasu's arteritis with thrombectomy and stenting: a case report. 长期成功的血管内治疗复杂性高松动脉炎的血栓切除和支架置入:1例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-05-01 DOI: 10.1186/s13256-024-04989-z
Claudio Chirico, Andrea Giorgianni, Veronica Clivio, Silvia Malnati, Tonia Gatta, Francesco Alberto Vizzari, Carlo Pellegrino, Massimo Fusco, Filippo Piacentino, Massimo Venturini, Federico Fontana
{"title":"Long-term successfully endovascular treatment of a complicated Takayasu's arteritis with thrombectomy and stenting: a case report.","authors":"Claudio Chirico, Andrea Giorgianni, Veronica Clivio, Silvia Malnati, Tonia Gatta, Francesco Alberto Vizzari, Carlo Pellegrino, Massimo Fusco, Filippo Piacentino, Massimo Venturini, Federico Fontana","doi":"10.1186/s13256-024-04989-z","DOIUrl":"https://doi.org/10.1186/s13256-024-04989-z","url":null,"abstract":"<p><strong>Background: </strong>Takayasu arteritis is a rare form of large-vessel vasculitis primarily affecting the aorta and its major branches, with a higher prevalence in young women. This inflammatory disease can lead to significant complications, including ischemic stroke and transient ischemic attacks, though large-vessel occlusion stroke is an uncommon initial manifestation. Diagnosis relies heavily on vascular imaging, and treatment typically involves high-dose glucocorticoids, revascularization procedures, and close monitoring for restenosis, which occurs frequently after interventions.</p><p><strong>Case presentation: </strong>This case report describes a 38-year-old North African woman who presented with acute left-sided hemiparesis and visual disturbances due to large-vessel occlusion involving the common carotid artery and middle cerebral artery. Mechanical thrombectomy and stenting were performed successfully, resulting in complete recanalization without complications. The patient was later diagnosed with Takayasu arteritis, and this was managed with high-dose corticosteroids. During a 2-year follow-up, no complications such as restenosis or re-occlusion were observed, and the patient remained in good health.</p><p><strong>Conclusion: </strong>This case is notable for the successful use of dual mechanical thrombectomy and stenting in the acute management of stroke in Takayasu arteritis without short- or long-term complications, a rare outcome not commonly reported in the literature. It highlights the potential efficacy of this approach in carefully selected patients, suggesting that postoperative immunosuppressive therapy may reduce the incidence of restenosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"202"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report. 1例中国女性糖尿病伴少经患者的kdm6a变异
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-30 DOI: 10.1186/s13256-025-05250-x
Huihui Tian, Hefei Wang, Jidong Liu, Shanshan Zhang
{"title":"A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.","authors":"Huihui Tian, Hefei Wang, Jidong Liu, Shanshan Zhang","doi":"10.1186/s13256-025-05250-x","DOIUrl":"https://doi.org/10.1186/s13256-025-05250-x","url":null,"abstract":"<p><strong>Background: </strong>Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the KMT2D or KDM6A genes. It is characterized by distinctive dysmorphic facial features, intellectual disability, and a variety of congenital anomalies. Endocrine manifestations such as growth hormone deficiency, hypoglycemia, and less frequently, diabetes mellitus (DM) and menstrual irregularities, have been reported. The diagnosis of KS can be challenging due to its phenotypic variability.</p><p><strong>Case presentation: </strong>We report a case of a 18 year-old female Han Chinese patient with KS who presented with menstrual irregularities, specifically oligomenorrhea, and a newly diagnosed non-autoimmune DM. She exhibited typical KS-related facial dysmorphism, short stature, and intellectual disability. Genetic testing confirmed a de novo mutation in the KDM6A gene (NM_021140.4:c.2177del). This case highlights the importance of recognizing uncommon endocrine presentations of KS, such as DM and menstrual disturbances, which may emerge during adolescence.</p><p><strong>Conclusion: </strong>This case illustrates the necessity of monitoring for endocrine complications, including glycemic abnormalities and reproductive issues, in patients with KS. Early recognition and intervention in these patients may improve outcomes and quality of life. Further research is needed to elucidate the mechanisms linking KDM6A mutations to endocrine dysfunction in KS.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"198"},"PeriodicalIF":0.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970050","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
Disseminated tuberculosis in an immunocompetent healthy young male with nonspecific symptoms: challenges toward diagnosis-a case report. 无特异性症状的免疫功能健康年轻男性的播散性肺结核:对诊断的挑战——一例报告
IF 0.9
Journal of Medical Case Reports Pub Date : 2025-04-29 DOI: 10.1186/s13256-025-05252-9
Md Abdullah Al Maruf, Sirajam Munira, Mirza Farzana Holy, Md Foyjul Islam
{"title":"Disseminated tuberculosis in an immunocompetent healthy young male with nonspecific symptoms: challenges toward diagnosis-a case report.","authors":"Md Abdullah Al Maruf, Sirajam Munira, Mirza Farzana Holy, Md Foyjul Islam","doi":"10.1186/s13256-025-05252-9","DOIUrl":"https://doi.org/10.1186/s13256-025-05252-9","url":null,"abstract":"<p><strong>Background: </strong>Disseminated tuberculosis, characterized by spread of Mycobacterium tuberculosis to multiple noncontiguous sites, is rare in immunocompetent individuals. Diagnosing disseminated tuberculosis is challenging due to its varied and often nonspecific symptoms.</p><p><strong>Case presentation: </strong>We report the case of a 29-year-old Bangladeshi male with no notable past medical history, who presented with prolonged fever, night sweats, cough, weight loss, and altered bowel habits over 6 months. Initial evaluations in Italy and France did not yield a definitive diagnosis. Further investigations in Bangladesh, including sputum smear, fine-needle aspiration cytology of a postauricular lymph node, abdominal ultrasonography, and magnetic resonance imaging of the brain confirmed disseminated tuberculosis. The patient responded excellently to a standard four-drug antitubercular therapy regimen.</p><p><strong>Conclusions: </strong>Disseminated tuberculosis should be considered in patients with systemic symptoms, particularly those from regions with a high tuberculosis burden. Early and accurate diagnosis, despite atypical presentations and initial negative findings, is crucial for effective treatment and improved outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"195"},"PeriodicalIF":0.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12039205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006097","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信