Journal of medical cases最新文献

{"title":"A Forty-Three-Year-Old Male With Penile and Cavernous Metastases From Rectal Cancer.","authors":"Dina Quannouni El Moumouhi, Ignacio Calleja Duran, Jose Emilio Hernandez Sanchez","doi":"10.14740/jmc5181","DOIUrl":"10.14740/jmc5181","url":null,"abstract":"<p><p>Metastasis to the cavernous bodies from colorectal cancer (CRC) is an exceptionally rare condition, typically associated with systemic dissemination and an ominous prognosis. It often presents synchronously with liver and lymph node involvement. A 43-year-old male presented with perineal pain, rectal bleeding, and urinary obstructive symptoms. Imaging studies revealed a <i>KRAS</i>-mutated rectal adenocarcinoma, classified as stage IV, with synchronous metastases to the cavernous bodies and liver. Treatment was initiated with FOLFOXIRI (folinic acid, 5-fluorouracil, oxaliplatin and irinotecan) chemotherapy but was discontinued due to tumor lysis syndrome and toxicity linked to a <i>UGT1A1</i> mutation. Despite modified FOLFOX (folinic acid, fluorouracil, oxaliplatin) plus bevacizumab, the disease progressed rapidly, prompting transition to palliative care and subsequent death. Cavernous body involvement in CRC reflects advanced disease, frequently accompanied by synchronous metastases and a limited life expectancy. This case underscores the poor prognostic significance of such metastases, suggests pelvic lymphatic spread as a likely mechanism, and highlights the critical impact of pharmacogenetics on treatment tolerance and outcomes. A review of the literature emphasizes the aggressive biology of such presentations. Penile metastases from CRC are rare but devastating, indicating disseminated disease. Multidisciplinary management should prioritize symptom control, with targeted therapies reserved for select cases. This case illustrates the need for heightened clinical suspicion in patients with a history of malignancy presenting with urological symptoms.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"381-386"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202669","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":"Radiotherapy for Isolated Breast Myeloid Sarcoma.","authors":"Jean-Marc Bourque, Jasmine Gaudet, Arsene Manengue, Christopher Bredeson, Rajiv Samant","doi":"10.14740/jmc4334","DOIUrl":"10.14740/jmc4334","url":null,"abstract":"<p><p>Myeloid sarcoma (MS) is an uncommon solid extramedullary tumor composed of malignant myeloid blasts that can be located in various tissues. It is often associated with acute myeloid leukemia (AML), but it can also be found in patients suffering from myeloproliferative disorders or myelodysplastic syndrome. Despite the lack of consensus on the best treatment for MS, this tumor is acknowledged to be radiosensitive. We report the case of a 33-year-old female diagnosed with MS involving the breast treated with salvage radiation, after having initially undergone systemic chemotherapy and an allogeneic hematopoietic cell transplant. The purpose of this report is to discuss the significant impact of local radiotherapy in patients suffering from this unique condition.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"360-365"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201476","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":"Persistent Impairment of Coronary Microvascular Dysfunction After Percutaneous Coronary Intervention in an Ice Swimming Champion.","authors":"Gueladio Kone, Matthieu Godin, Alexandre Fuzeau, Arnaud Verdonck, Francois Raoux, Jean-Nicolas Dacher, Laetitia Neuvillers, Julien Le Moal, Quentin Landolff","doi":"10.14740/jmc5150","DOIUrl":"10.14740/jmc5150","url":null,"abstract":"<p><p>Coronary microvascular dysfunction (CMD) is a recognized cause of persistent angina post-percutaneous coronary intervention (PCI), especially in patients without epicardial coronary stenosis. We report a case of a 58-year-old top-level sportsman and world champion ice swimmer with persistent dyspnea despite successful PCI for a mid-left anterior descending artery lesion. Follow-up angiography with optical coherence tomography showed no in-stent restenosis with good stent apposition. Angiography-derived microcirculatory resistance (AMR, Pulse Medical) and cardiac magnetic resonance imaging revealed CMD as the underlying etiology. This case demonstrates the utility and feasibility of AMR in identifying CMD post-PCI and supports its use in the diagnostic workup.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"366-371"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202679","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":"Quantitative Train-of-Four Monitoring Using the TetraGraph™ to Evaluate Rocuronium Requirements During Renal Transplantation in a Pediatric Patient.","authors":"Wajahat Nazir, Edison E Villalobos, Stephania Paredes Padilla, Gregory Maves, Joseph D Tobias","doi":"10.14740/jmc5151","DOIUrl":"10.14740/jmc5151","url":null,"abstract":"<p><p>The pharmacokinetics of neuromuscular blocking agents (NMBAs) may be altered in patients with renal insufficiency or failure, including alterations in the volume of distribution or elimination of the primary drug and its metabolites. In this patient population, monitoring of the end-organ effects of NMBAs may be useful to guide initial and subsequent dosing, as well as reversal of neuromuscular blockade. Train-of-four (TOF) monitoring remains the most commonly used technique to monitor the end-organ effect of NMBAs and the neuromuscular junction. Here we present the use of an electromyography (EMG)-based TOF monitor in a 9-year-old boy with end-stage renal disease during intraoperative anesthetic care for renal transplantation. The perioperative management of such patients, including dosing of NMBAs and use of neuromuscular blockade monitoring, is discussed.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"331-336"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202684","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":"Ketofol (Ketamine-Propofol) in Pediatric Awake Neurosurgery: An Anesthetic Perspective.","authors":"Asead Abdyli, Gentian Huti, Mirel Grada, Vojsava Leka, Stela Dodaj, Florian Dashi, Filadelfo Coniglione, Krenar Lilaj, Alma Cani, Alert Drishti, Mustafa Bajraktari, Majlinda Naco, Alma Soxhuku, Rudin Domi","doi":"10.14740/jmc5178","DOIUrl":"10.14740/jmc5178","url":null,"abstract":"<p><p>Awake neurosurgical procedures for brain tumor resections are uncommon in the pediatric population, and careful consideration is required regarding the patient's cognitive maturity, emotional readiness, and ability to cooperate throughout the intraoperative mapping process. The functional significance of the tumor location may demand precise neurological monitoring, while minimizing sedation to maintain patient responsiveness during cortical stimulation and language testing. We present the case of a 14-year-old patient who was diagnosed with a left temporal lobe tumor. Neuroimaging revealed a lesion with radiological characteristics and clinical correlation highly suggestive of a low-grade glioma. The tumor was situated within the dominant hemisphere, near eloquent cortical regions critically involved in language processing and memory function. These anatomical considerations posed a significant challenge to achieving maximal resection while minimizing the risk of neurological deficits. After thorough multidisciplinary discussion, the neurosurgical team opted for an awake craniotomy. This approach was chosen to facilitate intraoperative cortical and subcortical functional mapping, allowing real-time monitoring of language and cognitive functions. The primary objective was to achieve the greatest possible extent of safe tumor resection while preserving essential neurological functions and ensuring the patient's long-term quality of life. Anesthetic management of this patient was particularly challenging, as intraoperative seizures were a major concern due to both the tumor's cortical irritability and the stimulation required for functional mapping. We administered a combination of propofol and ketamine (ketofol) to provide monitored anesthesia care during the procedure. Preoperative planning included seizure prophylaxis, clear communication with the neurosurgical and neuropsychology teams, and the development of contingency strategies for airway management in the event that conversion to general anesthesia became necessary. This case underscores the complexity of pediatric awake craniotomy and highlights the importance of a multidisciplinary, individualized approach to optimize patient safety and surgical outcomes.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"352-359"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202730","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":"Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.","authors":"Asead Abdyli, Oliatina Demiri, Gentian Huti, Filadelfo Coniglione, Alert Drishti, Krenar Lilaj, Rudin Domi","doi":"10.14740/jmc5170","DOIUrl":"10.14740/jmc5170","url":null,"abstract":"<p><p>Dandy-Walker syndrome is a rare congenital malformation of the posterior fossa that presents unique anesthetic challenges, including difficult airway management, altered consciousness, hydrocephalus, and potential for prolonged postoperative ventilation. Hydrocephalus, the most common finding, can complicate ventilation and intubation, whereas brainstem involvement, along with agenesis of the corpus callosum, pontine hypoplasia, and distortion of the medullary respiratory centers, may contribute to prolonged postoperative ventilation. Anesthetic management in such cases requires thorough airway assessment, preparation for potential airway difficulties, intracranial pressure monitoring and control, and total intravenous anesthesia (TIVA) to facilitate rapid emergence. We describe the case of a 3-year-old male with macrocephaly, movement disorders, delayed cognitive development, and altered mental status, scheduled for ventriculoperitoneal shunt placement under TIVA without muscle relaxants, with careful airway preparation and intracranial pressure control. To our knowledge, this is the first reported case of Dandy-Walker syndrome managed in this manner.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"337-344"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202746","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 Hepatitis in a Patient Treated With Ribociclib for Metastatic Breast Carcinoma.","authors":"Chika Iguh, Iqra Bakhsh, Sava Grujic","doi":"10.14740/jmc5163","DOIUrl":"10.14740/jmc5163","url":null,"abstract":"<p><p>Ribociclib, a cyclin-dependent kinase 4/6 (CDK4/6) inhibitor, is widely used in the treatment of hormone receptor-positive (HR+), human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer. Although hepatotoxicity is a recognized adverse effect, severe cases of ribociclib-induced liver injury with histologic confirmation of submassive hepatic necrosis remain rare. We describe a case of a postmenopausal woman with newly diagnosed stage IV HR+/HER2-negative invasive lobular carcinoma who developed acute hepatocellular injury 8 weeks after initiating ribociclib and anastrozole. The patient presented with fatigue, jaundice, and dark urine, and was found to have markedly elevated transaminases (alanine aminotransferase 1,825 U/L; aspartate aminotransferase 1,536 U/L) and hyperbilirubinemia. A thorough workup excluded viral, autoimmune, and obstructive hepatobiliary causes. Liver biopsy demonstrated confluent centrilobular necrosis without fibrosis or significant inflammation. Causality assessments yielded an R-factor of 20.73, a Roussel Uclaf Causality Assessment Method score of 10 (highly probable), and a Naranjo score of 7 (probable). Ribociclib was discontinued and intravenous N-acetylcysteine (NAC) initiated, leading to gradual normalization of liver enzymes. The patient was maintained on anastrozole alone, with no recurrence of liver injury and stable disease at 13-month follow-up. This case highlights the potential for ribociclib to induce severe hepatocellular injury with histologic evidence of submassive necrosis. Early recognition and structured causality assessment ensures patient safety. In patients with significant hepatotoxicity, discontinuation of ribociclib and non-rechallenge may be prudent. Furthermore, consideration of NAC in management is important in cases demonstrating persistent transaminitis despite ribociclib discontinuation.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"372-380"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202724","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":"Renal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation.","authors":"Ibrahim Alharbi, Ascia K Alabbasi, Fay K Salawati, Razan A Alghamdi","doi":"10.14740/jmc5147","DOIUrl":"10.14740/jmc5147","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a neurocutaneous disorder inherited in autosomal dominant manner. It is characterized by multisystem involvement due to the formation of hamartomas in different organs. <i>TSC2</i> gene mutations are the most common cause of the disease and are associated with more severe neurological symptoms compared to <i>TSC1</i> gene mutations. However, in our case, we are reporting a rare mutation detected at the flanking splice site of exon 37 in the <i>TSC2</i> gene in a 2-year-5-month-old girl. She presented to the emergency department at the age of 1 month with generalized abnormal body movements. A review of genetic databases revealed no prior reports of this gene in the literature. Her diagnosis was confirmed by gene panel for TCS. Later, she developed renal cell carcinoma. Such cases are managed by a multidisciplinary team including a pediatrician, a pediatric neurologist, a pediatric cardiologist, a pediatric hematology-oncology specialist, and specialist in pediatric surgery. The overall prognosis of children with TSC is variable and dependent on the severity of symptoms, especially neurologic manifestations.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"345-351"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202658","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":"Life-Threatening Calcium Chloride Ingestion.","authors":"Ki-Kwan Kang, Hyoung-Jong Kim, Dong-Yoon Kim, Nam-Seon Beck, Sang-Sin Jun, Eun-Mi Jun, Joung-Il Im, Sae-Yong Hong","doi":"10.14740/jmc5183","DOIUrl":"10.14740/jmc5183","url":null,"abstract":"<p><p>Calcium chloride dihydrate (CaCl₂·2H₂O), a common component in household dehumidifiers in South Korea, poses a significant risk of toxicity upon ingestion. We present a case of life-threatening hypercalcemia following intentional calcium chloride dihydrate ingestion, with a focus on electrolyte homeostasis and physiological adaptation. An 86-year-old Korean woman presented with transient unconsciousness after ingesting dehumidifier fluid. She exhibited drowsiness and developed sinus tachycardia 10 h later. Severe hypercalcemia (19.4 mg/dL) was the main biochemical disturbance. Parathyroid hormone was initially suppressed but later rose, facilitating renal calcium excretion and phosphorus regulation. Electrolyte levels normalized by day 4. Prompt treatment, including gastric lavage and cardiac management, led to a full recovery. A rapid parathyroid hormone response played a crucial role in restoring calcium balance.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 9","pages":"387-391"},"PeriodicalIF":0.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202707","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":"Pure Red Cell Aplasia After ABO-Incompatible Allogeneic Hematopoietic Stem Cell Transplantation Successfully Treated With Daratumumab: Report of Two Cases.","authors":"Emiliano Javier Bertone, Martin Milanesio, Mercedes de Jesus Garcia, Leandro Roberto Castellanos, Evelin Luciana Pirazzini, Virginia Alicia Damonte, Ana Lisa Basquiera","doi":"10.14740/jmc5154","DOIUrl":"10.14740/jmc5154","url":null,"abstract":"<p><p>Pure red cell aplasia (PRCA) is a potential complication after ABO-incompatible allogeneic hematopoietic stem cell transplantation (HCT). In case where PRCA persists beyond 60 days post-HCT, spontaneous resolution is rare, and therapeutic intervention is typically required. However, there is currently no established standard of care for its management. We report two cases of post-transplant PRCA that were refractory to conventional therapies, including erythropoietin and rituximab, and were successfully treated with daratumumab. These cases underscore the potential role of daratumumab as an effective therapeutic option in the management of PRCA following ABO-incompatible HCT. Given the limited data available on its use in this setting, our report contributes with valuable clinical evidence supporting its efficacy and safety.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 8","pages":"309-313"},"PeriodicalIF":0.9,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12404116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994909","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}