Journal of Medical Case Reports最新文献

{"title":"Brown tumor mimicking giant cell tumor in primary hyperparathyroidism: a case report.","authors":"Luljeta Z Abdullahu, Brunilda I Haxhiu, Nimet H Orqusha, Naser A Gjonbalaj, Armend M Jashari, Fisnik I Kurshumliu, Vjollca I Dedushaj Fazliu, Basri Z Lenjani, Shemsi R Veseli, Ilir N Kurtishi, Ylli R Kaçiu","doi":"10.1186/s13256-025-05509-3","DOIUrl":"https://doi.org/10.1186/s13256-025-05509-3","url":null,"abstract":"<p><strong>Background: </strong>Differentiating brown tumor due to primary hyperparathyroidism from a giant cell tumor remains a clinical challenge. Misdiagnosis may lead to inappropriate oncologic treatment and unnecessary surgical interventions.</p><p><strong>Case presentation: </strong>We report the case of a 52-year-old Caucasian white woman of Albanian ethnicity with multiple osteolytic bone lesions and a history of repeated orthopedic surgeries over 5 years. Initial histopathology suggested aneurysmal bone cyst and giant cell tumor, while imaging findings were interpreted as metastatic bone disease, and led to chemotherapy and radiotherapy in the absence of a confirmed primary malignancy. The patient was later referred to our Nuclear Medicine Unit, where a repeat bone scintigraphy indicated metabolic bone disease. A full biochemical evaluation revealed severe hypercalcemia and elevated parathyroid hormone. Parathyroid scintigraphy confirmed a hyperfunctioning parathyroid adenoma. Retrospective review of previous pathology reports supported the diagnosis of brown tumor. The patient underwent successful parathyroidectomy. Biochemical parameters normalized within 3 months postoperatively, and no complications such as hypocalcemia were observed.</p><p><strong>Conclusion: </strong>This case illustrates the importance of early consideration of primary hyperparathyroidism in the differential diagnosis of multifocal lytic bone lesions. Accurate diagnosis requires a multidisciplinary approach combining imaging, histopathology, and biochemical evaluation to prevent misdiagnosis and overtreatment.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"429"},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957468","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":"Treatment of liver abscess caused by Klebsiella pneumoniae with multi-site infection: a case report.","authors":"Yong-Gang Gui, Song-Tao Shou, Yi Jiang, Qiu-Ling Wang","doi":"10.1186/s13256-025-05511-9","DOIUrl":"https://doi.org/10.1186/s13256-025-05511-9","url":null,"abstract":"<p><strong>Background: </strong>Pyogenic liver abscesses are a fatal condition often seen in emergency departments. The major clinical presentations include weakness, anorexia, fever, chills, ventosity and abdominal pain. They occur in immunocompromised individuals who suffer from diabetes mellitus, malignant tumors, hepatocirrhosis, kidney failure, and solid organ transplantation, or those with long-term administration of glucocorticoids. Invasive Klebsiella pneumoniae liver abscess syndrome resulting from hypervirulent Klebsiella pneumoniae often presents with extrahepatic complications such as endophthalmitis, meningitis, brain enlargement, pneumonia, necrotizing fasciitis, and spondylitis. Prompt diagnosis is crucial for the treatment of invasive Klebsiella pneumoniae liver abscess syndrome.</p><p><strong>Case report: </strong>A 75-year-old Han Chinese female patient who presented to the emergency department primarily for fever accompanied by chills was diagnosed with pyogenic liver abscess complicated with pulmonary infection, involving multiple pus emboli in the branches of the right hepatic vein. The patient accepted intravenous imipenem and cilastatin sodium for anti-infection, and subcutaneous insulin to control hyperglycemia. Percutaneous liver puncture and drainage was performed under ultrasound guidance. During the treatment the patient presented with headache, weakness in both lower limbs and lower back pain. Brain magnetic resonance imaging showed intracranial infection and lumbar magnetic resonance imaging showed infection of the vertebral body, intervertebral disc, and soft tissue. The patient had a liver abscess positive for Klebsiella pneumoniae together with infection of other organs, thus she was eventually diagnosed with invasive Klebsiella pneumoniae liver abscess syndrome. The antibiotics were adjusted according to the site of infection and drug sensitivity test. The patient recovered after percutaneous liver puncture and drainage under ultrasound guidance and anti-infection treatment for 3 months. Reexamination of abdominal computed tomography, chest computed tomography, brain magnetic resonance imaging and lumbar magnetic resonance imaging suggested that the infectious lesions had disappeared.</p><p><strong>Conclusion: </strong>This medical case report describes a patient with a pyogenic liver abscess caused by Klebsiella pneumoniae who was eventually diagnosed with invasive Klebsiella pneumoniae liver abscess syndrome. Invasive Klebsiella pneumoniae liver abscess syndrome has permanent morbidity, poor quality of life, and lacks warning signs. Despite the complexity of the condition, the patient received effective treatment and the abscess was successfully managed. Through this case, we propose that invasive Klebsiella pneumoniae liver abscess syndrome caused by hypervirulent Klebsiella pneumoniae should be considered for patients with diabetes and fever in the emergency department. Targeted intravenous antibiotics and pe","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"428"},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957460","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":"Presentation of osteoid osteoma in the fifth metatarsal: a case report and review of the literature.","authors":"Ehsan Behzadi, Mohammadhadi Mollaabbasi","doi":"10.1186/s13256-025-05366-0","DOIUrl":"https://doi.org/10.1186/s13256-025-05366-0","url":null,"abstract":"<p><strong>Background: </strong>Osteoid osteoma is a benign bone tumor commonly affecting the lower extremities, typically the femur or tibia. However, its occurrence in the fifth metatarsal bone is rare, and atypical presentations can lead to delayed diagnosis and misinterpretation as other pathologies.</p><p><strong>Case presentation: </strong>We report the case of a 14-year-old Persian male athlete who presented with persistent lateral forefoot pain lasting 2 years, initially attributed to a traumatic injury. The pain was progressively worsening, nocturnal, and unresponsive to nonsteroidal anti-inflammatory drugs, deviating from the classical dramatic relief associated with this tumor. Radiographs initially showed diffuse sclerosis without a visible nidus, further complicating the diagnosis. Computed tomography imaging later identified a well-defined nidus in the neck of the fifth metatarsal, confirming osteoid osteoma. Owing to the atypical symptoms, larger lesion size (> 1.5 cm), and poor response to conservative management, the patient underwent curettage and bone grafting, leading to complete symptom resolution. Histopathology confirmed the diagnosis, and postoperative follow-up showed full recovery with no recurrence at 6 months.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering osteoid osteoma in cases of unexplained, persistent metatarsal pain, even in the absence of classical imaging findings and nonsteroidal anti-inflammatory drug responsiveness. Early recognition with advanced imaging, such as computed tomography, is crucial in preventing misdiagnosis and ensuring timely intervention.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"427"},"PeriodicalIF":0.8,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957413","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":"Successful live birth via in vitro fertilization in a patient with lymphangioleiomyomatosis: a case report.","authors":"Yusen Ou, Yanqiu Xie, Xinyue Zhang, Weilin Wang, Yun Lin, Yequn Chen, Haiying Wang, Yang Zeng","doi":"10.1186/s13256-025-05465-y","DOIUrl":"https://doi.org/10.1186/s13256-025-05465-y","url":null,"abstract":"<p><strong>Background: </strong>Lymphangioleiomyomatosis is a rare, estrogen-sensitive multisystem disorder that predominantly affects women of reproductive age. Pregnancy and fertility interventions present a unique challenge in patients with lymphangioleiomyomatosis, as an elevated estrogen level during controlled ovarian hyperstimulation and pregnancy may exacerbate the disease.</p><p><strong>Case presentation: </strong>We describe a 43-year-old Han Chinese female patient diagnosed with sporadic lymphangioleiomyomatosis because of recurrent pneumothorax and diminished ovarian reserve who had a strong desire for pregnancy. In vitro fertilization was considered the most effective treatment to improve pregnancy rate, with low-estrogen protocols recommended following a comprehensive multidisciplinary evaluation. In the first controlled ovarian hyperstimulation cycle, the patient was treated with a microstimulation protocol, resulting in a peak estradiol level of 621 pg/ml. Two fresh embryos were transferred but did not achieve pregnancy. In the second controlled ovarian hyperstimulation cycle, a combination of letrozole and antagonist protocol was used, with a peak estradiol level of 248 pg/ml. Endometrial preparation for the frozen embryo transfer was conducted using a natural cycle, leading to a successful pregnancy. Throughout the pregnancy, multidisciplinary collaboration ensured continuous monitoring of both lung function and fetal development. Eventually, she achieved a full-term live birth via elective cesarean section, and pulmonary parameters remained stable after pregnancy.</p><p><strong>Conclusion: </strong>This is the first case report presenting a female diagnosed with sporadic lymphangioleiomyomatosis and diminished ovarian reserve who successfully achieved a live birth via in vitro fertilization with no lymphangioleiomyomatosis-related complication. The use of low-estrogen protocols and multidisciplinary collaboration are essential to ensure maternal-fetal safety and to minimize the risk of lymphangioleiomyomatosis progression during controlled ovarian hyperstimulation and pregnancy.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"426"},"PeriodicalIF":0.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12374301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957386","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 Sister Mary Joseph's nodule in fallopian tube cancer: exploring the metastatic pathway through gene expression profiling-a case report.","authors":"Takuto Uyama, Yusuke Matoba, Hikaru Nakahara, Akira Ishikawa, Hiroaki Niitsu, Kosuke Nakamoto, Iemasa Koh, Shinji Mii, Takao Hinoi, Kouji Banno","doi":"10.1186/s13256-025-05432-7","DOIUrl":"https://doi.org/10.1186/s13256-025-05432-7","url":null,"abstract":"<p><strong>Background: </strong>A Sister Mary Joseph's nodule is an umbilical metastasis from an intra-abdominal or pelvic malignancy, associated with a poor prognosis. Three possible metastatic pathways for Sister Mary Joseph's nodule have been postulated: hematogenous spread, lymphatic dissemination, and direct invasion. However, detailed analyses of these metastatic pathways, particularly those involving gene expression profiling, are lacking in literature. We investigated the metastatic patterns of Sister Mary Joseph's nodule by performing RNA microarray analysis of the primary tumor and each metastatic site in a case of fallopian tube cancer presenting with Sister Mary Joseph's nodule and inguinal lymph node metastases.</p><p><strong>Case presentation: </strong>A 48-year-old Japanese woman presented with swelling in an inguinal lymph node. Positron emission tomography-computed tomography imaging revealed multiple lymph node metastases, right ovarian tumor, umbilical metastasis, and peritoneal dissemination. The patient underwent a laparoscopic right adnexal resection, left inguinal lymph node biopsy, and umbilical resection. Pathological examination confirmed the diagnosis of primary high-grade serous carcinoma of the right fallopian tube. Metastatic high-grade serous carcinoma was identified in the lymph nodes and umbilical tissue. Tumor tissue samples were collected from the primary lesion, umbilical metastasis, and inguinal lymph node metastasis for RNA microarray analysis. The results showed that genes involved in cell adhesion, migration, and stromal remodeling associated with the metastatic processes were more highly expressed in both inguinal lymph node metastasis and Sister Mary Joseph's nodule than in the primary lesion. Interestingly, distinct differences in gene expression profiles were observed between umbilical and lymph node metastases, suggesting different metastatic mechanisms.</p><p><strong>Conclusion: </strong>Our findings suggest differences in the RNA expression patterns between Sister Mary Joseph's nodule and lymph node metastases in fallopian tube cancer, indicating the possibility of distinct metastatic mechanisms. Further examination of similar cases and longitudinal studies are necessary to elucidate the metastatic patterns of Sister Mary Joseph's nodule. This case highlights the potential value of molecular profiling for understanding the complex metastatic processes in gynecological malignancies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"425"},"PeriodicalIF":0.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957335","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":"Two-stage treatment of cholecystobronchial fistula secondary to gallbladder perforation: a case report.","authors":"Wenbo Li, Liang Li, You Jiang, Jiayang Liu","doi":"10.1186/s13256-025-05489-4","DOIUrl":"https://doi.org/10.1186/s13256-025-05489-4","url":null,"abstract":"<p><strong>Background: </strong>Gallbladder perforation is a serious complication of acute cholecystitis. Among its rarest manifestations, cholecystobronchial fistula represents an exceptionally uncommon form of type III perforation and is frequently misdiagnosed due to its nonspecific presentation. A 67-year-old Chinese (East Asian) male presented with a chief complaint of cough and hemoptysis. His medical history was significant for nephrotic syndrome, for which he had been receiving long-term corticosteroid therapy. Imaging demonstrated cholelithiasis, a cholecystobronchial fistula, and a right-sided lung abscess. A staged treatment approach was implemented. Stage I involved ultrasound-guided percutaneous transhepatic gallbladder drainage for infection control. Following clinical stabilization, stage II consisted of laparoscopic cholecystectomy. Intraoperative findings confirmed spontaneous closure of the fistula. The patient achieved an uneventful recovery and remained recurrence-free during follow-up.</p><p><strong>Conclusion: </strong>Cholecystobronchial fistula typically results from chronic gallbladder inflammation. Prolonged corticosteroid use may obscure clinical manifestations, potentially delaying diagnosis. Contrast-enhanced computed tomography is essential for fistula identification, supplemented by bronchoscopic bilirubin or microbiological analysis. A staged minimally invasive approach enhances both safety and therapeutic efficacy. This report underscores the critical importance of multidisciplinary collaboration, precise imaging, and individualized surgical planning in the management of rare biliary fistulas.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"422"},"PeriodicalIF":0.8,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12369030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957444","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 case of adrenal insufficiency presenting with seizures, complicated by developmental cerebral venous anomaly and Takotsubo cardiomyopathy: a case report.","authors":"Katrina Villegas, Brittany Eason, Karolina Janiec, Alaa Musallam, Ahmed Hammouda, Samia Ammar Aldwaik, Radhika Tailor","doi":"10.1186/s13256-025-05463-0","DOIUrl":"https://doi.org/10.1186/s13256-025-05463-0","url":null,"abstract":"<p><strong>Background: </strong>Adrenal insufficiency is a potentially life-threatening condition that often presents with nonspecific symptoms. While fatigue, hypotension, and electrolyte disturbances are common features, seizures and stress-induced cardiomyopathy are rare initial manifestations. This case is reported for its atypical presentation and to highlight the diagnostic challenge it posed in the absence of classic biochemical findings.</p><p><strong>Case presentation: </strong>We report a case of a 68-year-old Hispanic woman with diabetes, hypertension, dyslipidemia, and hypopituitarism secondary to Sheehan syndrome, who presented with new-onset seizures after abruptly discontinuing chronic steroid therapy. Her symptoms included progressive weakness and behavioral changes over several weeks. Initial evaluation revealed hyperglycemia, mild hyponatremia, and no hyperkalemia-findings consistent with secondary adrenal insufficiency-associated seizures, although contributing to initial diagnostic uncertainty. Brain imaging incidentally identified a developmental cerebral venous anomaly, which was initially suspected as a potential cause of the seizures. In addition, echocardiographic findings were consistent with Takotsubo cardiomyopathy, likely precipitated by the stress of her medical condition. However, further evaluation confirmed adrenal insufficiency with low cortisol and adrenocorticotropic hormone levels, and subnormal response to cosyntropin stimulation. Management included hydrocortisone for adrenal insufficiency and levetiracetam for seizure prophylaxis, leading to symptom resolution and no recurrence of seizures.</p><p><strong>Conclusion: </strong>This case emphasizes the importance of maintaining a high index of suspicion for adrenal insufficiency in patients with a suggestive history, even when classic electrolyte abnormalities are absent and neuroimaging reveals confounding findings. Recognizing rare presentations such as seizures and stress cardiomyopathy can prevent delays in diagnosis and improve outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"424"},"PeriodicalIF":0.8,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957363","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":"Mandibular metastasis of invasive ductal carcinoma of the breast: a case report.","authors":"Faraz SeyedForootan, Nazanin Mahdavi, Maryam Koopaie","doi":"10.1186/s13256-025-05499-2","DOIUrl":"https://doi.org/10.1186/s13256-025-05499-2","url":null,"abstract":"<p><strong>Background: </strong>Metastasis of breast carcinoma to the oral cavity is an uncommon event, and mandibular involvement is even rarer. This case is notable owing to the delayed occurrence of mandibular metastasis 6 years after the primary diagnosis, highlighting its aggressive behavior, which resulted in a pathological mandibular fracture. Reporting such rare presentations can aid clinicians in identifying atypical metastatic patterns in breast cancer survivors.</p><p><strong>Case presentation: </strong>A 45 year-old Persian female with a history of invasive ductal breast carcinoma, diagnosed initially and treated 6 years earlier, presented with facial swelling and pain in the left lower jaw. She had been receiving bisphosphonate therapy for bone metastases. Clinical and radiographic evaluations revealed a radiolucent mandibular lesion with cortical bone perforation. Histopathological and immunohistochemical analyses confirmed metastasis from the primary breast cancer. Despite subsequent radiotherapy and chemotherapy, the lesion progressed, resulting in a pathological mandibular fracture and further metastases to the lungs and liver.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering metastatic disease in diagnosing oral lesions in patients with a history of malignancy. Early recognition of atypical presentations such as mandibular metastasis may facilitate timely intervention, although prognosis remains poor in such advanced stages.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"423"},"PeriodicalIF":0.8,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957394","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 CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report.","authors":"Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi","doi":"10.1186/s13256-025-05481-y","DOIUrl":"https://doi.org/10.1186/s13256-025-05481-y","url":null,"abstract":"<p><strong>Background: </strong>Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially tendons, lenses, and the central and peripheral nervous systems. This condition manifests with systemic symptoms such as neurological disorders, atherosclerosis, tendon xanthomas, and cataracts. Cerebrotendinous xanthomatosis typically presents in individuals with homozygous or compound heterozygous mutations in the CYP27A1 gene because of its autosomal recessive inheritance pattern. However, the phenotypic expression in heterozygous carriers remains uncertain.</p><p><strong>Case presentation: </strong>We report a 53-year-old Japanese man who was clinically diagnosed with familial hypercholesterolemia. He presented with marked Achilles tendon xanthomas and refractory hyper-low-density-lipoprotein cholesterolemia. Initiation of intensified lipid-lowering therapy, including inclisiran, resulted in improvement of hyper-low-density-lipoprotein cholesterolemia. Genetic testing revealed heterozygous mutations in CYP27A1 (p.Arg405Gln) and apolipoprotein B (APOB) (p.Pro955Ser). He had no neurological symptoms, cataracts, or other features suggestive of cerebrotendinous xanthomatosis without Achilles tendon xanthomas.</p><p><strong>Conclusion: </strong>This case highlights a rare presentation of a potential CYP27A1 heterozygous mutation-related phenotype. The APOB (p.Pro955Ser) variant is associated with reduced low-density-lipoprotein receptor activity, contributing to hyper-low-density-lipoprotein cholesterolemia and Achilles tendon xanthomas. However, this patient's Achilles tendon xanthoma was thicker than those reported in previous cases with APOB (p.Pro955Ser) gene mutations, suggesting a potential contribution from the CYP27A1 mutation. Although the patient did not exhibit elevated serum cholestanol levels or other cerebrotendinous xanthomatosis features, the marked Achilles tendon thickening raises the possibility that the combination of a heterozygous CYP27A1 gene mutation and an APOB gene mutation contributed to the condition.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"421"},"PeriodicalIF":0.8,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12369076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957389","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":"Laminaria tent use for dilation, extraction, and curettage leading to septic shock: a case report.","authors":"A Ferreira, V Mongrain, L Mardini","doi":"10.1186/s13256-025-05238-7","DOIUrl":"https://doi.org/10.1186/s13256-025-05238-7","url":null,"abstract":"<p><strong>Background: </strong>Laminaria tents are commonly used to aid cervical dilation in gynecological procedures, but their potential risks are not well documented in the literature. This case report describes a severe adverse outcome following their use.</p><p><strong>Case presentation: </strong>A 27-year-old Caucasian woman G2P1 with a 14 + 1 weeks arrested pregnancy was consented for a dilation, extraction, and curettage. Two laminaria tents were inserted into the endocervix, and the following day the dilation and curettage was performed without immediate complications, although laminaria tents were in an unusual state of disintegration upon removal. Post-procedure, the patient developed fever and pelvic pain, and was found to have positive inflammatory markers, hypoxemic respiratory failure, and disseminated intravascular coagulation. A computed tomography scan revealed multiple septic emboli, and blood cultures grew Staphylococcus aureus. The clinical presentation and imaging suggested septic shock and multi-organ failure likely due to retained laminaria tent fragments. A diagnostic hysteroscopy followed by total abdominal hysterectomy and bilateral salpingectomy were performed, which revealed significant endometrial necrosis. The postoperative stay was complicated by diffuse alveolar hemorrhage needing intubation, and infective endocarditis. Despite prolonged antibiotic therapy and surgical intervention, the patient experienced persistent bacteremia but eventually recovered after a 26-day hospital stay.</p><p><strong>Conclusion: </strong>This case report underscores the risks associated with laminaria tents, including severe infection. Although laminaria tents are typically used for short procedures, their use in this case led to catastrophic outcomes, highlighting the need for careful consideration of prophylactic measures and the potential benefits of antibiotic prophylaxis. This case report describes a patient who suffered from severe complications from laminaria tent insertion.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"419"},"PeriodicalIF":0.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957455","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}