Journal of medical cases最新文献

Papillary fibroelastomas are benign cardiac tumors that constitute the second most common cardiac tumors. Controversy exists in the management of papillary fibroelastoma. When to surgically manage the patient or use pharmaceutical therapy is not clear. There are studies that indicate that nonsurgical management might be associated with higher mortality and morbidity rates and more adverse events. There has not been a reported case of papillary fibroelastoma managed successfully with only anticoagulation. Clearer guidelines are needed for the management of papillary fibroelastoma, especially in cases where a patient is a poor surgical candidate or declines surgical intervention. In this case, a patient has been managed nonsurgically for 4 years and 7 months up to date. The patient is a 57-year-old female who presented to the emergency department with myocardial infarction symptoms. The myocardial infarction was thought to be secondary to an embolic event after a patent foramen ovale was identified on transthoracic echocardiogram or sequelae from arrhythmia. Cardionet ruled out arrhythmia, and patent foramen ovale closure workup revealed a 0.3-cm mobile papillary fibroelastoma. Surgical management was not pursued due to surgical risks and the patient's preference, and the patient was prescribed long-term apixaban. The patient was followed for 4 years and 7 months and experienced an episode of vaginal bleeding during this time. This case shows an example of when nonsurgical management can be pursued as the patient declined surgical intervention after benefits and risks were discussed. Also, this case shows the importance of considering the patient's bleeding risk, such as this patient's history of hematuria due to acute cystitis, miscarriages, and heparin-induced gingival hematoma while hospitalized, prior to initiating anticoagulation. Bleeding risk can be assessed using the HAS-BLED risk score or equivalent.

Primary cardiac tumors are rare. Cardiac tumors of substantial size may present in the perioperative setting urgently, bypassing conventional imaging, thus relying on echocardiography for characterization and operative guidance. We report a unique case of a 66-year-old female with a large left atrium mass, who presented with worsening dyspnea and fatigue, with biopsy suggesting a primary cardiac sarcoma. This case is unique, as approximately 70% of left atrial masses reported in the literature are cardiac myxomas, whereas the most common site in which cardiac sarcomas develop is the right atrium. In this particular case, the location of the left-sided sarcoma resulted in mitral valve and left ventricular outflow obstruction, as well as severe pulmonary hypertension, leading to complicated anesthetic induction during surgery. This rare case of a primary cardiac tumor highlights the sequelae of obstructive atrial masses, which potentially resulted in cardiovascular collapse with induction of anesthesia. It is especially unique for pathologic findings suggesting a cardiac sarcoma. This case provides an opportunity to discuss diagnostic challenges for patients with complex pathophysiology and contributes to the limited collection of literature on cardiac sarcomas located in the left atrium.

Primary seminal vesicle adenocarcinoma (PSVA) is an exceptionally rare malignancy, with fewer than 100 cases reported worldwide and poses significant diagnostic and surveillance challenges due to its deep pelvic location, nonspecific clinical manifestations, frequent coexistence with other genitourinary malignancies, and lack of validated serum tumor markers. A 77-year-old male with long-standing lower urinary tract symptoms and mildly elevated prostate-specific antigen was found to have a large (7.4 cm) predominantly cystic pelvic mass replacing the left seminal vesicle on magnetic resonance imaging. Histologic evaluation revealed synchronous high-grade prostate adenocarcinoma and a distinct dedifferentiated carcinoma not arising from prostatic tissue. Comprehensive immunohistochemical analysis supported a diagnosis of PSVA. The patient underwent robotic-assisted radical prostatectomy with en bloc excision of the seminal vesicle mass, rectal repair, and ureteral reimplantation. Postoperatively, prostate-specific antigen remained undetectable; however, tumor-informed circulating tumor DNA (ctDNA) testing detected molecular residual disease. Following completion of radiotherapy, ctDNA became undetectable, and the patient has remained disease-free at nearly 1 year of follow-up. This case highlights the importance of comprehensive imaging, detailed immunohistochemical profiling, and aggressive multimodal management in PSVA, and represents the first documented report of molecular clearance using ctDNA after treatment for this rare malignancy. While causal inference cannot be established from a single case, this report suggests that ctDNA may serve as a promising adjunctive tool for postoperative surveillance in rare urologic cancers lacking reliable serum biomarkers.

Koolen-de Vries syndrome (KdVS), caused by haplo-insufficiency of the KANSL1 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.

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 (KRAS) 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.

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.

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.

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.

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.

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.