Journal of medical cases最新文献

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.

Approximately 30% of patients with acute myeloid leukemia (AML) harbor FMS-like tyrosine kinase 3 (FLT3) 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 FLT3 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 FLT3 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 FLT3 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 FLT3 V491L mutation, we conducted an ex vivo sensitivity study using the patient's diagnostic bone marrow blasts to assess and compare the anti-leukemic efficacy of midostaurin, quizartinib, and gilteritinib. The ex vivo 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 FLT3 V491L mutation, underscoring the need for further research and improved accessibility to effective therapies.

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.

Disseminated intravascular coagulation (DIC) is an uncontrolled activation of the coagulation cascade which is often a complication observed in patients with malignancies. DIC can occur in both hematologic and solid malignancies. Management of DIC is often focused on treating the underlying cause and supportive care, which varies based on thrombotic versus bleeding-predominant phenotypes. We report a case of a 69-year-old man with metastatic malignant gastrointestinal stromal tumor (GIST) diagnosed 9 years prior and actively on imatinib, who presented to the emergency department (ED) with gingival bleeding. On presentation, he was hypertensive with active gingival bleeding and was found to have anemia, thrombocytopenia, and mildly elevated coagulation parameters. His initial bleeding was thought to be due to poor dental hygiene and thrombocytopenia, which may be a side effect of imatinib. His imatinib was discontinued, yet he returned to the ED within 2 days with hematuria and melanic stools. He developed multiple sources of bleeding with worsening bicytopenia, progressive coagulopathy, and high levels of fibrin degradation products. He was diagnosed with DIC. He went on to have four additional hospitalizations for bleeding from various sites and abdominal pain. His DIC was attributed to malignancy with findings of disease progression, tumor thrombi, pulmonary embolism, and intracranial hemorrhage through his course. This case represents a rare occurrence of chronic DIC in metastatic GIST and is only the second known report of chronic DIC in a patient with GIST. Despite adjustments to his cancer therapies and anticoagulation, he continued to have episodes of DIC with frequent hospitalizations and ultimately death. Further research is warranted on the selection of and potential variability in bleeding risks of different anticoagulants in DIC. The complexity of tumor-induced coagulopathy and impact of cancer therapies on coagulation highlights the need for additional research into tailored management to improve outcomes in similar cases.

Gangrenous cholecystitis (GC) represents a severe complication of acute cholecystitis, characterized by full-thickness necrosis of the gallbladder wall. This condition arises from persistent cystic duct obstruction, causing local ischemia and inflammation. Its incidence ranges from 2% to 29.6% of acute cholecystitis cases and is associated with risk factors including male gender, age over 50, history of cardiovascular disease, diabetes mellitus (DM), and leukocytosis greater than 17,000 white blood cells/mL. GC carries significant morbidity and mortality, with increased operative complications compared to non-gangrenous acute cholecystitis. Early diagnosis and intervention are crucial to the prevention of disease progression and complications. Diagnosing GC preoperatively is challenging, particularly in diabetic patients who may lack typical symptoms such as right upper quadrant pain due to diabetic autonomic neuropathy. These patients often present with non-specific findings, increasing the difficulty of early diagnosis. This report presents a 56-year-old man with uncontrolled DM initially diagnosed with diabetic ketoacidosis (DKA), later found to have GC despite non-elevated liver function tests, absence of leukocytosis, and no reported history of postprandial or right upper quadrant pain. Despite imaging findings suggestive of acute cholecystitis, the absence of right upper quadrant pain and leukocytosis lowered clinical suspicion, leading to delayed diagnosis and intervention. Ultimately, intraoperative findings confirmed GC, and the patient underwent a successful laparoscopic cholecystectomy. This case highlights the complexities of diagnosing GC in diabetic patients and suggests that underlying microvascular disease and autonomic neuropathy contribute to atypical presentations. Clinicians should consider GC in diabetic patients with non-specific abdominal symptoms and maintain a low threshold for surgical intervention. Further studies are needed to elucidate the pathophysiology and clinical presentation of GC in diabetic patients and to optimize diagnostic and management strategies.

We present the case of a 56-year-old male with cecal involvement of non-Hodgkin's lymphoma (NHL), whose tumor was refractory to multiple chemotherapy regimens and ultimately resulted in significant local complications due to tumor erosion, leading to considerable morbidity. NHL is the most common hematologic cancer with many subtypes of disease, with diffuse large B-cell lymphoma (DLBCL) being the most common. Extra-nodular presentation in the gastrointestinal tract is typical in many cases; however, the involvement of the colon is rare. This case details a patient with extra-nodal involvement of the cecum. The patient initially presented with an enlarging neck mass. This report highlights the importance of evaluating extra-nodular disease.

Iatrogenic aortic dissection (IAD) is an extremely rare complication of coronary angiography, most often occurring during percutaneous coronary intervention (PCI) and typically resulting from retrograde extension of a coronary artery dissection. The coexistence of IAD with acute coronary syndrome (ACS) presents significant management challenges, with no established guidelines to guide therapy. Management decisions are influenced by several factors, including whether angiography is performed in the setting of stable angina versus ACS, the extent of ischemic myocardium at risk, the patient's hemodynamic stability, and the extent of aortic involvement - particularly whether the dissection is confined to the aortic root or extends into the ascending aorta by less than or greater than 4 cm. Treatment strategies may include PCI alone for the coronary dissection or urgent surgical repair of the aorta with coronary artery bypass grafting (CABG). The role of off-pump CABG in this context remains poorly defined. We describe a unique case of a patient with severe mid-left anterior descending (LAD) artery disease presenting with a non-ST elevation myocardial infarction (NSTEMI), who developed a type II IAD during diagnostic coronary angiography without associated coronary artery dissection. Prompt recognition, careful imaging with transesophageal echocardiography (TEE) and computed tomography angiography (CTA), and immediate medical stabilization prevented progression of the dissection. This allowed for a successful and uncomplicated off-pump left internal mammary artery (LIMA) CABG to the LAD, resulting in excellent short- and long-term clinical outcomes.

Coccygodynia, characterized by persistent pain in the coccyx area, is a debilitating condition with limited effective treatments. We report a case exploring the use of radial extracorporeal shockwave therapy (ESWT) as a noninvasive treatment for chronic refractory coccygodynia. A 39-year-old female patient presented with chronic coccygeal pain unresponsive to conventional therapies. A thorough review of the patient's medical history, clinical presentation, and imaging findings led to a diagnosis of idiopathic coccygodynia. Given her clinical situation and the failure of previous interventions, radial ESWT was considered a possible option due to its noninvasive nature and reported success in treating other chronic musculoskeletal conditions. Significant pain reduction and improved quality of life were observed 3 months post-treatment, as confirmed by the Visual Analog Scale (VAS), Pain Self Efficacy Questionnaire, Oswestry Disability Index, and Tampa Scale of Kinesiophobia scores. The beneficial effects were confirmed even at 12 months post-treatment follow-up, suggesting radial ESWT is a promising alternative therapeutic option. The positive outcomes in this case (though the evident limits of a case report) provide a foundation for considering radial ESWT in the broader context of managing chronic treatment-resistant coccygeal pain.

The anesthetic management of a patient with an extensive biliary mucinous cystadenoma presents unique challenges that necessitate careful consideration of the patient's physiological status, potential cardiopulmonary and hemodynamic changes resulting from elevated intra-abdominal pressure and possible compression of major abdominal vessels or, as well as the requirement for meticulous fluid and electrolyte management due to fluid and blood loss, and the provision of appropriate analgesic therapy. This case report describes the anesthetic management of a 22-year-old female diagnosed with a sizeable biliary mucinous cystadenoma measuring approximately 32 × 22 × 24 cm. It emphasizes the anesthetic considerations essential to ensure a safe and successful outcome.

Aortic regurgitation (AR) can be difficult to accurately quantify on echocardiography alone, potentially leading to erroneous grading. A 52-year-old male presented following resuscitation after an out-of-hospital cardiac arrest. He had been followed in the cardiology outpatient clinic for a number of years for monitoring of bicuspid aortic valve and associated AR. Regular transthoracic echocardiography and one transesophageal echocardiogram had shown moderate range AR. Cardiac magnetic resonance imaging reported the AR as severe with associated severely dilated left ventricle. Echocardiography grading and the patient's lack of symptoms supported a strategy of active surveillance. The presentation with cardiac arrest prompted re-evaluation of the severity of this patient's AR. Repeat cardiac magnetic resonance imaging re-affirmed severe AR, and the patient proceeded to surgical aortic valve replacement with a bioprosthetic valve. Post-operatively, the patient had heart failure with severely reduced ejection fraction. During hospital stay, he developed thyrotoxicosis secondary to amiodarone. This case demonstrates the discrepancy in assessing severity between different imaging techniques and highlights the potential complications in delayed intervention in AR.