Journal of Medical Case Reports最新文献

{"title":"First-line endocrine therapy combined with CDK 4/6 inhibitor in disseminated carcinomatosis of bone marrow (DCBM) luminal breast cancer: a case report.","authors":"Eko Adhi Pangarsa, Putri Dwi Astuti, Daniel Rizky, Kevin Tandarto, Budi Setiawan, Andreas Agung Winarno, Damai Santosa, Catharina Suharti","doi":"10.1186/s13256-024-04922-4","DOIUrl":"10.1186/s13256-024-04922-4","url":null,"abstract":"<p><strong>Background: </strong>Metastatic breast cancer especially in disseminated carcinomatosis of bone marrow (DCBM) poses a life-threatening risk, often requiring systemic chemotherapy. This situation lacks a cure, emphasizing symptom relief and quality of life. The documented occurrence of DCBM is merely 0.17% in metastatic breast cancer and ranges from 0.6 to 1.7% in solid tumors. Until now, there is no official medical guideline for treating patients with luminal breast cancer (LBC) who have DCBM. This case report highlights LBC patient with DCBM, treated at diagnosis with first-line therapy combining endocrine therapy (ET) and a CDK4/6 inhibitor.</p><p><strong>Case presentation: </strong>A 36-year-old premenopausal female of Javanese ethnicity with advanced de novo luminal breast cancer diagnosed in 2020. The immunohistochemistry showed estrogen receptor (ER)+ (90%), progesterone receptor (PR)+ (20%), human epidermal growth factor receptor 2 (HER-2) negative, and a high Ki-67 staining result at 60%. The patient had visceral crisis, which involved bone marrow infiltration and liver metastasis with preserved liver function. After intolerance of side effects from first line treatment with tamoxifen, the treatment plan was adjusted to letrozole, ribociclib, and leuprorelin injection. After completing the sixth cycle of treatment, blood parameters in the laboratory were found to have returned to normal. The patient's response to this regimen was remarkable, with significant alleviation of symptoms and improvement in quality of life observed.</p><p><strong>Conclusion: </strong>Notably, the combined approach of ET and CDK4/6 inhibitor represents a novel intervention in managing DCBM in patients with LBC.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"591"},"PeriodicalIF":0.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780337","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":"Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report.","authors":"Sintayehu Mekonnen, Dereje Adefris, Belete Shikuro, Abdi Bati, Daniel Azmeraw, Temesegen Kassa, Eliud Teshome, Hawi Farris","doi":"10.1186/s13256-024-04872-x","DOIUrl":"10.1186/s13256-024-04872-x","url":null,"abstract":"<p><strong>Background: </strong>Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.</p><p><strong>Case presentation: </strong>Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient from Ethiopia who had repeated medical visits for episodic jaundice and hepatosplenomegaly, with unusual features of conjugated hyperbilirubinemia, pancytopenia, normal reticulocyte count, and lack of family history, where the delay in diagnosis led to several complications. The patient was successfully managed with simultaneous splenectomy and cholecystectomy.</p><p><strong>Conclusion: </strong>This case underscores the importance of a thorough clinical examination, spending the time to review a case periodically without assuming the initial diagnosis is correct, and maintaining a healthy skepticism of inconsistent data to prevent misdiagnosis and mistreatment. The diagnostic delay highlights the need for increased awareness and familiarity with diagnostic modalities of hereditary spherocytosis among healthcare providers in Ethiopia.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"583"},"PeriodicalIF":0.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769773","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":"Deep vein thrombosis and aneurysm co-occurrence: a case report and review of the literature.","authors":"Meghdad Ghasemi Gorji, Amirhossein Rajabi, Sina Sohrabizadeh, Mahtab Asgari, Ali Rafiei, Fardin Karbakhsh Ravari","doi":"10.1186/s13256-024-04961-x","DOIUrl":"10.1186/s13256-024-04961-x","url":null,"abstract":"<p><strong>Background: </strong>The co-occurrence of deep vein thrombosis with vascular aneurysms, whether venous or arterial, seems to be uncommon. This case report details a patient who experienced an isolated rupture of the right common iliac aneurysm 1 year after a deep vein thrombosis episode.</p><p><strong>Case presentation: </strong>A 20-year-old Iranian female with a history of deep vein thrombosis DVT was treated with rivaroxaban but later presented with a ruptured right common iliac aneurysm. Surgical intervention was successful, but she developed persistent abdominal pain, small bowel obstruction, and a large pancreatic pseudocyst requiring drainage. Despite continued anticoagulant therapy, a thrombosed graft was observed, although the patient remains asymptomatic for organ ischemia or blood supply disorders.</p><p><strong>Conclusion: </strong>The association of deep vein thrombosis with vascular aneurysms is a rare occurrence. It is important to consider aneurysm-related flow disturbances and compression effects on veins when evaluating patients with concurrent deep vein thrombosis and aneurysms. Behçet's disease, Hughes-Stovin syndrome, chronic traumatic arteriovenous fistula, and recurrent nontyphoidal Salmonella bacteremia can also contribute to this association.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"596"},"PeriodicalIF":0.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780335","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":"Synchronous occurrence of papillary thyroid carcinoma and solitary fibrous tumor of the thyroid: a case report.","authors":"Maissa Ben Thayer, Imen Helal, Raoueh Hedhli, Emna Rejeb, Fatma Khanchel, Ehsen Ben Brahim, Raja Jouini, Aschraf Chadli-Debbiche","doi":"10.1186/s13256-024-04923-3","DOIUrl":"10.1186/s13256-024-04923-3","url":null,"abstract":"<p><strong>Background: </strong>Solitary fibrous tumors (SFT) are ubiquitous mesenchymal neoplasms of intermediate malignant potential. SFTs of the head and neck are rare, representing less than 0.1% of all SFTs. Solitary fibrous tumors of the thyroid (SFTT) are even rarer. Only 49 cases of SFTTs have been documented in the literature, with just two cases being synchronous with papillary thyroid carcinoma (PTC). By presenting a synchronous PTC and SFTT case, we aim to review the clinical presentation, diagnostic challenges, histopathological characteristics, and management strategies associated with this unusual co-occurrence.</p><p><strong>Case presentation: </strong>A 46-year-old North African female patient with no prior medical history presented with a year-long, indwelling cervical swelling. Cervical ultrasound revealed two nodules in the right thyroid lobe and one nodule in the left thyroid lobe. The first right thyroid nodule, measuring 50 mm, is classified as European Thyroid Imaging and Reporting Data System (EU-TIRADS) III. The second right thyroid nodule, measuring 15 mm, and the 25 mm left thyroid nodule were classified as EU-TIRADS IV. A total thyroidectomy with bilateral lymphadenectomy was performed. Microscopic examination revealed that the left nodule and right nodule measuring 15 mm corresponded to invasive PTCs. The second nodule in the right lobe corresponded to a proliferation of spindle cells arranged in sheets and wavy or storiform bundles with a hemangiopericytoma-like vascular pattern. The spindle cells had indistinct boundaries with elongated non-atypical nuclei. There was no mitosis. On immunochemistry, the spindle cells showed strong and diffuse positivity for CD34 and CD99. They are negative for smooth muscle actin, S100, and cytokeratin. It was then confirmed to be an SFTT case. The final diagnosis was of synchronous PTC and SFTT.</p><p><strong>Conclusion: </strong>We presented the third case of synchronous PTC and SFTT. The co-occurrence of these tumors is likely incidental. However, further studies are needed to assess the physiopathology and molecular alterations of this association.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"595"},"PeriodicalIF":0.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780341","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":"Partial vitreous occlusion of Ahmed glaucoma valve implant with controlled intraocular pressure: a case report.","authors":"Yun Jeong Lee","doi":"10.1186/s13256-024-04934-0","DOIUrl":"10.1186/s13256-024-04934-0","url":null,"abstract":"<p><strong>Background: </strong>The Ahmed glaucoma valve implant is effective in reducing intraocular pressure, yet it poses a risk of complications such as vitreous occlusion of the tube, potentially resulting in elevated intraocular pressure or retinal issues. Here, I report a distinctive case of partial vitreous occlusion of an Ahmed glaucoma valve implant wherein intraocular pressure could be controlled with the use of topical antiglaucoma medications.</p><p><strong>Case presentation: </strong>An 86-year-old Korean male with primary open-angle glaucoma in the left eye underwent Ahmed glaucoma valve implantation due to uncontrolled intraocular pressure despite maximal medical treatment. At postoperative 1-month, partial vitreous occlusion of the Ahmed glaucoma valve tube with intraocular pressure elevation to 25 mmHg was identified. Despite persistent occlusion after neodymium:yttrium-aluminum-garnet laser vitreolysis, stable intraocular pressure was achieved with the use of topical antiglaucoma medications throughout the entire follow-up period up to 6 months postoperatively, without retinal complications.</p><p><strong>Conclusions: </strong>This report highlights a unique instance of partial vitreous occlusion of an Ahmed glaucoma valve implant in which intraocular pressure could be managed with medical therapy. In cases where complete vitreous removal is not feasible, close monitoring is recommended for prompt detection and management of potential complications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"592"},"PeriodicalIF":0.9,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769776","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":"Minimally invasive management of intramural pregnancy using ultrasound combined with laparoscopy -based learning experience from a low-middle income country: a case report and review of the literature.","authors":"Ngoc Diep Le, Phuc Nhon Nguyen","doi":"10.1186/s13256-024-04966-6","DOIUrl":"10.1186/s13256-024-04966-6","url":null,"abstract":"<p><strong>Background: </strong>Intramural pregnancy is a very rare type of ectopic pregnancy, which is surrounded by uterine myometrium layer and separates from endometrium. To our knowledge, this abnormal location site of ectopic pregnancy remains likely under-recognized and under-reported. Through this paper, we aim to underscore the role of minimally invasive surgery in this uncommon condition where applicable, especially in low-middle income countries.</p><p><strong>Case presentation: </strong>A 34-year-old Vietnamese female patient (gravida 3 parity 1) was hospitalized due to a diagnosis of intramural pregnancy. Rapidly, the patient underwent laparoscopy for a removal of ectopic pregnancy mass corresponding to 5-6 weeks of gestation, taking into consideration the possibility of conservative surgery. This surgical intervention was carefully performed under ultrasound guidance at operating room. The surgical management resulted in a favorable outcome, though a hysterectomy and laparotomy could be avoided intentionally in this case.</p><p><strong>Conclusion: </strong>This case report emphasizes the timely detection of intramural pregnancy involving the successful outcome. Moreover, in an early term of intramural pregnancy, uterine conservative management under laparoscopic surgery combined with ultrasound could be a reliable management for this extreme rarity at tertiary center. Further data is required to strengthen this finding.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"593"},"PeriodicalIF":0.9,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769775","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":"Synovial chondromatosis, a cause of hip pain: a case report.","authors":"Carlos Marques-Gomes, Bruno Miguel Fernandes, Mariana Diz-Lopes, Miguel Bernardes","doi":"10.1186/s13256-024-04933-1","DOIUrl":"10.1186/s13256-024-04933-1","url":null,"abstract":"<p><strong>Background: </strong>Synovial chondromatosis is a proliferative disease of the synovium associated with cartilage metaplasia that causes localized joint pain and affects its function.</p><p><strong>Case presentation: </strong>A 63-year-old white woman presented with right hip pain, lasting over 10 years. Pelvic radiography showed right hip osteoarthritis and ipsilateral periacetabular opacities. Computed tomography confirmed the diagnosis of hip synovial chondromatosis.</p><p><strong>Conclusion: </strong>Synovial chondromatosis is a benign, rare condition that affects the synovial joints and is characterized by the presence of free cartilaginous bodies within the joint capsule. Although the etiology of synovial chondromatosis is not established, it is known that synovial membrane metaplasia leads to the formation and proliferation of cartilaginous nodules. The knee is the most affected joint; however, synovial chondromatosis may occur in the shoulder, elbow, or, rarely, the hip. As we can see in this case, diagnosis can be made using radiography.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"594"},"PeriodicalIF":0.9,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769783","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":"Severe Xanthogranulomatous prostatitis mimicking prostate cancer: a case report.","authors":"Wael Abdo Hassan, Ahmed Ali Elmetwally, Mennat Allah Mohammed Abdelhafeez, Osama Khalid Abo Ali","doi":"10.1186/s13256-024-04870-z","DOIUrl":"10.1186/s13256-024-04870-z","url":null,"abstract":"<p><strong>Background: </strong>Xanthogranulomatous prostatitis is a rare, noncancerous inflammatory condition of the prostate that clinically resembles prostatic carcinoma, necessitating a pathological examination for accurate diagnosis.</p><p><strong>Case presentation: </strong>A 75-year-old Egyptian male presented with urinary symptoms and an elevated serum prostate-specific antigen. Initial clinical and imaging findings suggested a locally advanced carcinoma of the prostate. However, histopathological examination after transurethral resection of the prostate revealed severe xanthogranulomatous prostatitis on a background of benign prostatic hyperplasia.</p><p><strong>Conclusion: </strong>Xanthogranulomatous prostatitis can present with symptoms and radiological findings and biochemical markers similar to those of prostatic carcinoma. Accurate diagnosis of xanthogranulomatous prostatitis requires a high level of suspicion and close collaboration with a pathologist.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"582"},"PeriodicalIF":0.9,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769782","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":"Relations between daily stressful events, exertion, heart rate variability, and thoracolumbar fascia deformability: a case report.","authors":"Andreas Brandl, Raimund Engel, Christoph Egner, Robert Schleip, Christian Schubert","doi":"10.1186/s13256-024-04935-z","DOIUrl":"10.1186/s13256-024-04935-z","url":null,"abstract":"<p><strong>Background: </strong>The posture of performance-oriented sport climbers adapts in a way that likely promotes the development of low back pain. The thoracolumbar fascia, while also contributing to performance, seems to be involved in that process. Furthermore, there has been evidence of the stiffening of the fascial structures in disorders associated with negative affectivity. The study aims to investigate the relationship between the autonomic nervous system and the deformability of the thoracolumbar fascia in a sport climber in a natural setting.</p><p><strong>Case presentation: </strong>Over a 30 day period, a 50-year-old German male reported daily morning resting heart rate variability and daily inventory of stressful events. The thoracolumbar fascia deformation was measured daily using ultrasound in a manual therapy clinic. A time series analysis was performed to detect possible time-delayed relationships between the variables. A cluster analyses revealed two distinguishable heart rate variability clusters (heart rate variability clusters 1 and 2). Both clusters were correlated with thoracolumbar fascia deformation and daily inventory of stressful events. Higher heart rate variability cluster 1 immediately caused lower thoracolumbar fascia deformation. Heart rate variability cluster 1 parameters mediated the effect of daily inventory of stressful events on a decrease in thoracolumbar fascia deformation with a 2-day delay. One heart rate variability cluster 2 parameter mediated the effect of daily inventory of stressful events on an increase in thoracolumbar fascia deformation with a 7-day delay.</p><p><strong>Conclusion: </strong>Heart rate variability cluster 1 values, which probably indicate sympathetic nervous system activity, are directly related to thoracolumbar fascia. Presumably, the sympathetic nervous system mediated the effect of daily inventory of stressful events on a lower thoracolumbar fascia deformation with a 2-day delay, followed by a supercompensation, most likely parasympathetically mediated. Coaches and trainers should be aware of these mechanisms and consider monitoring during training to minimize potential additional risk factors for impaired performance and health.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"589"},"PeriodicalIF":0.9,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769778","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":"Acute myocardial infarction presenting as headache: a case report.","authors":"Ahmed Emara, Amr K Hassan, Ahmed M Khairy","doi":"10.1186/s13256-024-04913-5","DOIUrl":"10.1186/s13256-024-04913-5","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis of acute myocardial infarction is straightforward when it presents with typical symptoms. However, some patients can be asymptomatic, and some can present with atypical symptoms.</p><p><strong>Case presentation: </strong>We present a very rare case of acute myocardial infraction that presented with headache and right upper limb numbness of 2-day duration in a 61-year-old female Middle Eastern patient. The patient underwent percutaneous coronary intervention to a totally occluded right coronary artery with two drug-eluting stents. The headache and numbness immediately disappeared after revascularization, and the patient was discharged on anti-ischemic medications. This report concerns a case of cardiac cephalalgia.</p><p><strong>Conclusion: </strong>Myocardial infarction can present in several different ways and should be included in the differential diagnosis for headache.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"18 1","pages":"590"},"PeriodicalIF":0.9,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769681","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}