AME Case Reports最新文献

Background: Hyperammonemic encephalopathy caused by high-dose infusion of 5-fluorouracil (5-FU) is a rare adverse reaction in rectal cancer patients with an incidence rate of 5.7%. Although the patient could be restored to normal after supportive treatments, the occurrence of this side effect was still inevitable. Therefore, we analyzed the data of patients during chemotherapy and combined with relevant literature to provide reference for the prevention and treatment of hyperammonia-induced encephalopathy.

Case description: The patient experienced severe consciousness disorders, unresponsive to stimuli, and stiff limbs during two cycles of 5-FU chemotherapy (after 40 hours of infusion), meanwhile the levels of blood ammonia were 117.0 and 349.0 µmol/L, lactate were 9.1 and 7.6 mmol/L respectively. The patient recovered consciousness and all of those laboratory indicators and vital signs turned to be normal through interrupting use of 5-FU and corresponding treatments after approximately 12 hours.

Conclusions: Hyperammoniac encephalopathy was hard to prevent, we still recommended to conduct a comprehensive evaluation of the patient's physical condition including nutritional status, liver and kidney function, dihydropyrimidine dehydrogenase (DPD) level before chemotherapy in cases of muscle loss, infection or dehydration. In additional, therapeutic drug monitoring (TDM) can be considered to monitor blood drug concentration and guide the 5-FU dosage if possible. The early consciousness changes of patients during chemotherapy can remind us of prompt detection and treatment to avoid coma or even death.

Background: While acute occlusion of the subclavian artery (SCA) proximal to the vertebral artery (VA) origin is an uncommon but recognized cause of embolic stroke, an occlusion distal to the VA is rare and can be easily overlooked.

Case description: We describe the clinical presentation and evaluation of a previously healthy 56-year-old woman who experienced four life-threatening posterior circulation strokes within 1 month, three of which led to basilar artery (BA) occlusions requiring thrombectomies. Workup revealed an occlusion of the right SCA located less than 1 cm distal to the VA origin. After the fourth posterior circulation ischemic event and three BA thrombectomies, a decision was made to sacrifice the right VA origin. Following the sacrifice of the origin of the right VA, she recovered with minimal neurological deficits and regained complete functionality with no further ischemic episodes in the following 2 years.

Conclusions: This case highlights an exceedingly rare etiology of posterior circulation stroke: an occlusion of the SCA distal to the VA origin. Though unconventional, the decision to sacrifice the VA origin proved crucial in this context and underscores the need for consideration in similar scenarios. Her recovery emphasizes the safety and effectiveness of recurrent thrombectomy procedures when appropriately indicated.

Background: Parathyroid carcinoma is a rare and challenging malignancy, often confirmed by histopathological analysis. Due to its rarity, it can present in atypically. We present a case of parathyroid carcinoma with an unusual course of pulmonary metastasis emphasizing the complexities of its diagnosis and management.

Case description: A 38-year-old lady was referred to our department when her newborn was found to have hypoparathyroidism. Laboratory tests showed elevated parathyroid hormone (PTH) and adjusted calcium levels. Imaging studies suggested the presence of parathyroid tumors, and histopathology confirmed parathyroid carcinoma. Immunohistochemistry was positive for GATA3 in the tumor cells, and next generation sequencing revealed CDC73 mutation, MYC rearrangement, ASXL1 mutation, and a tumor mutational burden (TMB) of 11 Muts/Mb. Despite surgical intervention and initial remission, she developed pulmonary metastasis, which was surgically addressed. She is currently under immunotherapy with six cycles of pembrolizumab due to recurrence.

Conclusions: This case highlights the importance of prolonged surveillance and imaging for parathyroid carcinoma due to recurrence and metastasis. Aggressive resection of parathyroid carcinoma and metastasis are important to decrease mortality. This case also highlights the importance of genetic factors, like CDC73 mutations, confirmed in this study.

Background: Collision tumors of the gastrointestinal (GI) tract are thought to be uncommon, with those of the colon being rare with very few cases reported in current literature. There are three proposed theories regarding the etiology of collision tumors currently, including the "double primaries", the "biclonal malignant transformation", and the "tumor-to-tumor carcinogenesis" theories. Prognosis of collision tumors remains unclear. To our knowledge, this is the fifth case of a collision carcinoma involving the cecum and ileocecal valve and the first report of a collision carcinoma including both mucinous adenocarcinoma and neuroendocrine tumor of the cecum and the ileocecal valve. The aim of this paper is to explore the history of collision tumors and associated nomenclature, defined diagnostic criteria, and proposed theories for etiology in addition to patient presentation, approach to diagnosis, treatment options, and prognosis.

Case description: We present the case of an 83-year-old female who presented to the emergency room with a 4-month history of cramping abdominal pain associated with nausea, emesis, and decreased appetite with associated weight loss. Diagnostic imaging demonstrated a bowel obstruction secondary to a mass in the cecum and she underwent an exploratory laparotomy with right hemicolectomy. She was found to have a collision carcinoma of the cecum and ileocecal valve containing both mucinous adenocarcinoma and neuroendocrine tumor. Diagnosis was confirmed post-operatively with pathologic examination and immunohistochemical testing.

Conclusions: Diagnosing collision tumors upon patient presentation is exceedingly difficult as the symptoms are often identical to other neoplasms of the GI tract and vary based on location of the tumor. It is thought that the true prevalence of collision tumors is underestimated due to history of changing nomenclature, unclear diagnostic criteria, unreported cases, and unrecognized cases. Furthermore, new advances in immunohistochemical evaluation have allowed for better characterization of these neoplasms. With clarification regarding nomenclature, diagnostic criteria and expanding awareness, it is our hope that this leads to an increase in reported cases, allowing for an expanded discussion and resulting growth of literature and further studies. Further knowledge regarding the pathogenesis, treatment, and prognosis is needed.

Background: Cardiac resynchronization therapy (CRT) implantation has significantly improved quality of life and reduced overall mortality due to heart failure. The conventional method of CRT implantation is implanting a left ventricle (LV) lead into a side branch of the coronary sinus (CS) tributary to pace the epicardial surface and capture the LV. This is safe, and well tolerated with a high success rate. The rate of failure to place an LV lead has decreased over time, however, there are still challenging cases where a conventional CRT implant fails and alternative techniques are being considered, one such technique is trans-septal endocardial LV lead placement used to capture the LV, endocardially but its use is limited due to lack of evidence, practice uptake and clinical trials.

Case description: We present, a case report of a patient for whom we successfully used a trans-septal left ventricle (TSLV) endocardial lead implantation approach following a failed LV lead implant via the CS to get effective cardiac resynchronisation.

Conclusions: Post-TSLV lead implantation follow-up checks were normal with good electrical parameters and appropriate biventricular pacing. No post-procedural complications were reported, and echocardiographic parameters improved at follow-up. We believe, although, TSLV lead implant is more complex and often double operators are required, in selected patients, it can be a safe alternative following a failed traditional LV lead implant via the CS.

Background: Local anesthetic (LA) resistance is an exceedingly rare phenomenon. Incidence is unknown given the rarity of disease. Often, inadequate response to LA can be attributed to many factors including suboptimal dosing, maldistribution, or poor procedural technique. However, in the absence of these technical factors, true LA resistance can be attributed to mutations in the voltage gated sodium channel and is strongly associated with hypermobility conditions such as Ehlers Danlos and muscular dystrophies such as Emery-Dreifuss. There have also been reports describing LA resistance after scorpion bites, although the underlying mechanism for this type of resistance is unknown. We aim to present a case of suspected LA resistance in the setting of multiple failed LA delivery.

Case description: In this case report, we describe a patient with suspected LA resistance after failed intrathecal, perineural, intraarticular and subcutaneous delivery of LA. Our patient was unresponsive to three different LAs at varying doses.

Conclusions: Patients with failure to achieve adequate anesthesia with more than one route of LA administration should be evaluated for LA resistance. A thorough medical history and physical examination, along with a focus on identifying prior LA failure such as with dental procedures, and physical examination findings suggestive of connective tissue disorders may help establish the diagnosis with confirmatory genetic testing.

Background: The theophylline toxidrome presents with multisystemic involvement that includes cardiovascular, neurologic, metabolic, musculoskeletal, and gastrointestinal manifestations. Considering such a varied spectrum of presentations, it is often difficult to ascertain the diagnosis of this particular toxidrome. Review of home medications is an important step when working with a patient presenting as a toxidrome.

Case description: The case report is about a 69-year-old female patient who was brought to the emergency room in status epilepticus and atrial fibrillation with rapid ventricular response. She had a prolonged state of drowsiness following an initial antiepileptic therapy and a toxicologic screen positive for toxic levels of theophylline at 59.7 mcg/mL. Emergent dialysis was performed leading to improvement of her overall clinical status. We suspect the patient had built up toxic levels of theophylline due to evolving drug interactions after she discontinued many of her routine home medications following her husband's death.

Conclusions: Theophylline is a methylxanthine derivative medication that is used sparingly in the treatment of airway diseases. It has become less favorable over the years due to its narrow therapeutic index and potential for development of toxicity. Monitoring serum drug levels and adjusting the dose frequently to maintain a therapeutic range is essential to prevent toxicity related to theophylline. There is emerging evidence that the drug might have anti-inflammatory properties to aid in treating many chronic airway disorders and pharmacovigilance is necessary for its continued use.

Background: Multiple myeloma (MM) relapse in the central nervous system (CNS) confers an adverse prognosis, usually occurring in a short period after stem cell transplant and with a short overall survival. Isolated CNS relapse is so rare that there is no current standard treatment.

Case description: We present a 59-year-old male with an isolated CNS MM relapse, who had received autologous stem-cell transplant (ASCT) and thalidomide maintenance 11 years prior. He returned to our clinic with cauda equina syndrome and a nuclear magnetic resonance (NMR) identified a spinal lesion, a lumbar puncture was performed and plasma cells were identified in his cerebrospinal fluid (CSF). He was initially treated with intrathecal (IT) chemotherapy with methotrexate and steroid + radiotherapy and plasma cells disappeared after a few bi-weekly doses. Later on, treatment with pomalidomide/dexamethasone was given for 12 cycles with good clinical response with 80% recovery of his motor function.

Conclusions: In this rare case of a very late CNS MM relapse, we demonstrate that IT chemotherapy complemented with a systemic pomalidomide-based treatment is safe and effective. This is particularly important in contexts where newer therapies such as bispecifics, chimeric antigen receptor-T (CAR-T) cells or even daratumumab or selinexor are not widely available. Further clinical experience in this particular scenario will be required to confirm this observation and define overall the best strategy for this rare group of patients.

Background: Orbital floor fractures typically manifest as eyeball mobility disorders with double vision (diplopia), enophthalmia, and infraorbital paresis. Surgical treatment of these fractures involves orbital floor reconstruction. The procedure involves freeing the trapped tissues from the lumen of the maxillary sinus and rebuilding the orbital floor. Technological progress in the field of three-dimensional (3D) printing allows physical prototyping of the implants to be used during the procedure.

Case description: A 43-year-old female patient presented to the hospital with diplopia, which first occurred after a fall from own height. Examinations, including a computed tomography (CT) confirmed the diagnosis of an orbital floor fracture. 3D printing was used to plan the surgical treatment of the patient. Based on preoperative CT, a 1:1 scale model was prepared by means of 3D printing to demonstrate the fractured orbital area. It was later used to pre-cut a Codubix prosthesis, which was subsequently used to reconstruct the fractured bone. The patient's postoperative course was uneventful. Instant improvement in diplopia was noted. A CT scan was performed on the 3^rd day after surgery. No herniation into the maxillary sinus was observed.

Conclusions: 3D printing seems to be a useful method that allows more thorough preparation for the surgery and also could potentially shorten its duration.

Background: The medial collateral ligament (MCL) is crucial for ensuring implant stability after unicompartmental knee arthroplasty (UKA). Intraoperative MCL lesions can cause valgus instability, affecting function and implant longevity, and thereby negatively impacting the patient's outcome. Every surgeon who performs UKA may encounter this complication in their daily practice. In this context, this case report presents a rescue technique. The existing literature does not specify a protocol for managing this complication. This article presents the first instance of accidental midsubstance section of the MCL during medial UKA, managed through primary suture and augmentation repair with a fascia lata (FL) autograft. The procedure was subsequently replicated step by step on an anatomical specimen.

Case description: A 54-year-old woman, previously successfully treated with right medial UKA, was referred to our clinic following an unsuccessful attempt at conservative treatment for osteoarthritis in the left knee. Scheduled for a left medial UKA, an inadvertent midsubstance transection of the deep part of the MCL was encountered during the procedure, resulting in valgus instability. The MCL was promptly repaired and reinforced using an ipsilateral FL augmentation autograft. Subsequent UKA surgery was successfully completed. Follow-up at one year revealed favorable post-operative outcomes, with symmetrical stability on stress radiographs and no indications of early loosening.

Conclusions: To our knowledge, this article represents the first documentation of the direct management for this rare yet severe complication. This case report could therefore inspire any surgeon facing this complication. The technique, grounded in biomechanical principles, ensures direct medial stability whilst allowing uninterrupted continuation of the initial procedure. Characterized by simplicity and reproducibility, the approach demonstrates favorable short-term outcomes. Because the results should be interpreted considering the limited impact of a case report, further prospective studies are essential to substantiate and strengthen these findings.