Journal of medical cases最新文献

{"title":"Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion.","authors":"Alaa Soliman, Jonathan Schmidt, Joseph D Tobias, Ashley Smith","doi":"10.14740/jmc5234","DOIUrl":"10.14740/jmc5234","url":null,"abstract":"<p><p>Koolen-de Vries syndrome (KdVS), caused by haplo-insufficiency of the <i>KANSL1</i> gene, is a rare neurodevelopmental disorder characterized by hypotonia, intellectual disability, facial dysmorphism, and multi-system end-organ involvement. Given the potential for skeletal and central nervous system involvement, patients with KdVS may require anesthetic care during diagnostic imaging or surgical procedures. Due to the rarity of the syndrome, information regarding anesthetic management remains sparse, derived primarily from isolated case reports. We present the anesthetic management of a 13-year-old patient with KdVS during posterior spinal fusion for neuromuscular scoliosis. Previous case reports are reviewed, the spectrum of end-organ involvement is presented, and options for perioperative care are discussed.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 2","pages":"48-53"},"PeriodicalIF":0.9,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12861521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146108874","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":"Long-Term Disease-Free Survival After Sorafenib-Combined Chemotherapy for Refractory Metastatic Testicular Germ Cell Tumor: A Five-Year Follow-Up.","authors":"Hong Liang Gao, Yue Jia Du, Zi Yi Wu, Tian Yu Cao, Yuan Jie Li, Jing Li","doi":"10.14740/jmc5235","DOIUrl":"10.14740/jmc5235","url":null,"abstract":"<p><p>The management of late-stage refractory metastatic non-seminomatous germ cell tumor (NSGCT) remains a significant challenge in oncology. While first-line BEP (bleomycin, etoposide, cisplatin) chemotherapy achieves high cure rates in most patients, those who progress after multiple lines of therapy have a poor prognosis and limited treatment options, highlighting a critical gap in effective treatment decision-making for advanced disease. This previously reported case is an example of precision medicine and also demonstrates that the therapeutic effect is not transient but can be sustained long term, as shown by our 5-year follow-up. This 21-year-old man with widely metastatic NSGCT initially underwent orchiectomy followed by BEP chemotherapy, which achieved only a partial response. He then experienced rapid progression with new lung and brain metastases that were unresponsive to second-line GEMOX (gemcitabine + oxaliplatin) chemotherapy and a programmed death-ligand 1 (PD-L1) blockade clinical trial. When treatment options were exhausted, comprehensive molecular profiling of a new lung lesion identified 22 oncogenic alterations, including Kirsten rat sarcoma viral oncogene (<i>KRAS</i>) amplification. Guided by a molecular tumor board (MTB) recommendation, an off-label regimen of carboplatin, paclitaxel, and sorafenib (CPS) was initiated, targeting the MAPK pathway. The tumor again developed resistance to CPS, prompting a rational BEP rechallenge that resulted in disease stabilization and ultimately a durable long-term remission. At the 5-year follow-up in July 2025, the patient remains disease-free with a normal quality of life. We present this N-of-1 case to illustrate how molecularly guided post-resistance treatment can inform therapeutic decision-making in advanced disease. Tumors are highly complex, and gene-cancer interaction is still being elucidated. In this context, key learning points from this case include: 1) the critical role of iterative molecular profiling and MTB guidance in identifying actionable targets when standard options are exhausted; 2) the potential value of rational drug rechallenge informed by the evolving \"tumor ecology;\" and 3) the necessity of long-term follow-up to link treatment responses with biomarkers, allowing N-of-1 learning that may offer a template for personalized management in similarly challenging cases.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 2","pages":"54-61"},"PeriodicalIF":0.9,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12861522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146109508","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":"Intravenous Thiamine-Induced Thrombocytopenia in a Patient With Chronic Adrenal Insufficiency.","authors":"Mohammed Ayed Alanazi","doi":"10.14740/jmc5250","DOIUrl":"10.14740/jmc5250","url":null,"abstract":"<p><p>Thiamine (vitamin B1) is generally considered safe, with rare adverse effects, including anaphylaxis. Although thrombocytopenia related to thiamine deficiency is known to improve with supplementation, thrombocytopenia occurring after thiamine administration has not been well described. We report the case of a 63-year-old female with adrenal insufficiency and malnutrition who developed severe thrombocytopenia shortly after initiation of intravenous thiamine for nutritional support. Platelet counts declined rapidly during therapy and recovered completely following thiamine discontinuation, with no alternative etiology identified after systematic evaluation. Drug-induced immune thrombocytopenia was suspected, with Naranjo score of 6 indicating a probable adverse drug reaction; the temporal relationship and clinical course were consistent with this diagnosis. No alternative causes were identified. This case highlights a rare and previously undocumented association between thiamine therapy and thrombocytopenia. Clinically, this report demonstrates that even medications generally regarded as safe may, in rare cases, lead to serious hematological adverse effects, underscoring the importance of reporting such events to increase clinical awareness of this uncommon but potentially severe reaction. Clinicians should maintain a high index of suspicion for drug-induced thrombocytopenia in patients receiving intravenous thiamine and consider platelet monitoring in high-risk or critically ill patients.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 2","pages":"75-79"},"PeriodicalIF":0.9,"publicationDate":"2026-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12861520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146109438","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":"Anesthetic and Transfusion Management in Placenta Accreta Spectrum: Lessons From a Resource-Limited Setting and Mini-Review.","authors":"Alma Soxhuku Isufi, Genci Hyska, Kastriot Dallaku, Vjollca Shpata, Xhensila Frasheri Prendushi, Albana Shahini, Asead Abdyli, Krenar Lilaj, Hektor Sula, Rudin Domi, Fatos Sada","doi":"10.14740/jmc5204","DOIUrl":"10.14740/jmc5204","url":null,"abstract":"<p><p>Placenta accreta spectrum (PAS) is a severe obstetric condition characterized by abnormal placental invasion of the myometrium, often resulting in massive hemorrhage and high maternal morbidity and mortality. Optimal management requires early recognition, multidisciplinary coordination, and prompt activation of massive transfusion protocols (MTPs). We report the case of a 41-year-old gravida 3 woman at 36 - 37 weeks of gestation, with two prior cesarean deliveries and a transverse fetal lie, who developed life-threatening hemorrhage during cesarean section for PAS. Spinal anesthesia was promptly converted to general anesthesia to allow safe surgical intervention, which included hysterectomy, hemostatic and vaginal sutures, bladder repair, and massive transfusion. Postoperatively, the patient was stabilized in the intensive care unit and discharged in good condition after 10 days. This case demonstrates that early MTP activation, rapid anesthetic adaptation, and coordinated multidisciplinary care can result in favorable outcomes even in resource-limited settings. It underscores the importance of preparedness, flexible intraoperative decision-making, and collaboration across obstetric, anesthetic, surgical, and critical care teams in the management of high-risk PAS cases.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"21-27"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902174","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 Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.","authors":"Khalid Aloqeely, Amal Yousif, Fatima Aljaziri","doi":"10.14740/jmc5223","DOIUrl":"10.14740/jmc5223","url":null,"abstract":"<p><p>Acute compartment syndrome (ACS) is a rare but limb-threatening emergency in children, usually associated with displaced fractures, crush injuries, or high-energy trauma. Prompt recognition and fasciotomy are essential to prevent permanent disability. An unusual case of ACS after non-displaced fractures is presented, challenging traditional risk factors. A healthy 4-year-old girl presented 12 h after a 2-m fall with severe forearm pain, swelling, an absent radial pulse, delayed capillary refill (3 - 4 s), and cold digits. Radiographs showed non-displaced proximal ulna and distal radius fractures. Emergency fasciotomy was performed based on clinical findings of ACS. ACS can occur in children after non-displaced fractures, even without conventional risk factors. Clinicians should rely on careful neurovascular assessment and clinical suspicion rather than fracture type or mechanism alone. Early recognition and surgical intervention are critical to preserve limb function.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"37-40"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902169","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":"Flumazenil Reversal of Remimazolam Sedation During Posterior Spinal Fusion in Two Adolescents.","authors":"Nikole Lee, Kelly Moon, Joshua C Uffman, Joseph D Tobias","doi":"10.14740/jmc5221","DOIUrl":"10.14740/jmc5221","url":null,"abstract":"<p><p>Remimazolam is a novel, ester-metabolized benzodiazepine, which received approval by the United States Food and Drug Administration (FDA) for procedural sedation in adults in 2020. Since then, its clinical uses have expanded to intraoperative use both as the primary agent or as an adjunct to general anesthesia. Although its novel route of metabolism through tissue esterases generally results in a rapid resolution of its effects when the infusion is discontinued; in certain clinical scenarios, reversal of its clinical effects may be achieved with flumazenil. We present two clinical cases outlining the use of flumazenil to reverse the effects of remimazolam, which was used as an adjunct to total intravenous anesthesia during posterior spinal fusion (PSF) in two adolescent patients. In our first case, to facilitate an intraoperative wake-up test, the clinical effects of remimazolam were reversed with flumazenil. In the second case, flumazenil reversed the residual effects of remimazolam to speed awakening and tracheal extubation at the completion of the surgical procedure. The clinical uses of remimazolam are reviewed, experience with its use as an adjunct during PSF is discussed, and the clinical role of reversal with flumazenil is presented.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"32-36"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902146","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":"Cyclophosphamide for the Treatment of Refractory Immune Effector Cell-Associated Neurotoxicity Syndrome Following CD19-Targeted CAR T-Cell Therapy.","authors":"Austin Frisch, Loren Marino, Deena Alsaadi, Aditya Kasarabada, Gwen Hua, Germame Ajebo, Stephen Medlin, Zartash Gul","doi":"10.14740/jmc5211","DOIUrl":"10.14740/jmc5211","url":null,"abstract":"<p><p>Immune effector cell-associated neurotoxicity syndrome (ICANS) is a serious complication of chimeric antigen receptor T-cell (CAR-T) therapy, associated with significant morbidity and mortality. While corticosteroids and anakinra are cornerstones of treatment, a subset of patients develop severe, steroid-refractory ICANS, highlighting a critical need for more effective therapies. We present the case of a 51-year-old male with relapsed/refractory Philadelphia chromosome-positive (Ph+) B-cell acute lymphoblastic leukemia (B-ALL) who developed grade 4 ICANS following brexucabtagene autoleucel CAR-T therapy. His neurotoxicity was refractory to high-dose corticosteroids, anakinra, and intrathecal chemotherapy. Following administration of low-dose cyclophosphamide (375 mg/m²), patient achieved full neurological recovery. This case suggests that earlier, lower-dose cyclophosphamide may be an effective strategy to mitigate ICANS while preserving CAR-T function, warranting further investigation to define its role in treatment algorithms.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"28-31"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902184","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":"Delayed Presentation of Metachronous Ascending Colonic Adenocarcinoma in Early-Onset Colorectal Cancer Undergoing Curative Resection.","authors":"Budhi Ida Bagus, Febriagi Bayu Aji, Nafa Unnisa, Arga Scorpianus","doi":"10.14740/jmc5184","DOIUrl":"10.14740/jmc5184","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is the third most common cancer in both age groups in the world and one of the increasing causes of mortality each year. Particularly in early-onset colorectal cancer (EOCRC), this age group tends to metastasize to distant organs like the liver, lung, bone, and brain and in metachronous cases. Metachronous cancer in the colorectal adenocarcinoma is usually found in the first 2 - 3 years following curative treatment, with delayed recurrences being extremely rare. We report a rare case of a 42-year-old male with a history of ascending colon adenocarcinoma diagnosed at the age of 31. He underwent curative R0 resection with lymph node involvement, followed by 6 months of adjuvant FOLFOX chemotherapy. He remained disease-free for 11 years under routine surveillance. In 2025, he presented with symptoms of bloody diarrhea and altered bowel habits. Imaging and colonoscopic biopsy revealed a new adenocarcinoma in the distal rectum, representing a delayed metachronous. Clinical staging confirmed localized rectal cancer with limited metastasis (T3N2bM1a). Despite surgical resection being indicated, the patient declined surgery and opted for systemic chemotherapy. He tolerated treatment well, maintained functional status, and reported a good quality of life. Delayed metachronous recurrence can occur in EOCRC even after standard adjuvant therapy and prolonged remission. EOCRC also has a chance to be a delayed metachronous case. Closed follow-up should be performed, particularly in the case of those who refused the operative treatment.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"9-13"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902132","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 Myeloid Leukemia With a Non-Canonical <i>FLT3</i> V491L Mutation: A Case Report With <i>Ex Vivo</i> FLT3 Inhibitors Sensitivity Testing.","authors":"Mateusz Pospiech, Michelle P Ngo, Misk Alrawashdeh, Usama Qamar, Amir Ali, Eric Tam, George Yaghmour, Houda Alachkar, Abdullah Ladha","doi":"10.14740/jmc5197","DOIUrl":"10.14740/jmc5197","url":null,"abstract":"<p><p>Approximately 30% of patients with acute myeloid leukemia (AML) harbor FMS-like tyrosine kinase 3 (<i>FLT3</i>) mutations, which are associated with poor overall survival. Although United States Food and Drug Administration (FDA)-approved FLT3 inhibitors are available, their efficacy against non-canonical <i>FLT3</i> mutations remains elusive. Here we present a case of a 72-year-old female Jehovah's Witness with newly diagnosed AML carrying a rare pathogenic <i>FLT3</i> V491L mutation identified by next-generation sequencing. Given the patient's religious beliefs, blood transfusion was not an option, making the patient ineligible for high-intensity chemotherapy and leading to alternative treatment approaches. To our knowledge, this is the first case report of the effectiveness of gilteritinib in an older patient with AML with a non-canonical <i>FLT3</i> mutation and limitation on blood products usage. Initial treatment with hydroxyurea and leukapheresis followed by azacitidine and venetoclax resulted in an inadequate treatment response. Given the lack of research on the <i>FLT3</i> V491L mutation, we conducted an <i>ex vivo</i> sensitivity study using the patient's diagnostic bone marrow blasts to assess and compare the anti-leukemic efficacy of midostaurin, quizartinib, and gilteritinib. The <i>ex vivo</i> study revealed the lowest half-maximal inhibitory concentration (IC₅₀) value and the highest number of apoptotic cells in gilteritinib treated patient's blasts under Flt3 ligand-supplemented conditions. An initial clinical improvement with gilteritinib was observed. However, after the third cycle, gilteritinib was substituted with midostaurin because of high copay costs with gilteritinib. Subsequently, an increase in leukemic blasts was observed, and soon after, the patient expired. Treatment of relapsed AML with a non-canonical mutation is challenging due to the lack of data regarding FLT3 inhibitors. This case highlights the potential role of gilteritinib in targeting the rare <i>FLT3</i> V491L mutation, underscoring the need for further research and improved accessibility to effective therapies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 1","pages":"14-20"},"PeriodicalIF":0.9,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145902140","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":"Remimazolam as an Adjunct to General Anesthesia During Surgery for Congenital Heart Disease in a Pediatric Patient With a Family History of Malignant Hyperthermia.","authors":"Bradley Blansky, Christopher McKee, Joseph D Tobias","doi":"10.14740/jmc5216","DOIUrl":"10.14740/jmc5216","url":null,"abstract":"<p><p>Malignant hyperthermia (MH) is an inherited disorder of muscle physiology, triggered by various pharmacologic agents including succinylcholine or the volatile anesthetic agents. In susceptible patients, intraoperative care may be provided by total intravenous anesthesia (TIVA) with propofol or other sedative-hypnotic agents. Remimazolam is a novel benzodiazepine which possesses sedative, anxiolytic, and amnestic properties similar to those of midazolam. Metabolism by tissue esterases results in a half-life of 5 - 10 min, a limited context sensitive half-life, which may make it a suitable agent for continuous administration during TIVA. We present anecdotal experience with the use of remimazolam as an adjunct to general anesthesia during the intraoperative care of a 6-month-old patient undergoing surgery for congenital heart disease with cardiopulmonary bypass. Previous reports regarding the use of remimazolam in MH-susceptible patients are reviewed, and its role in this clinical scenario is discussed.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 12","pages":"517-521"},"PeriodicalIF":0.9,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12683905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145717213","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}