AME Case Reports最新文献

Background: Patients with advanced-stage tongue cancer are often confronted with an increased risk of difficult airway management due to anatomical changes caused by prior surgeries and radiation therapy. These alterations may lead to acute airway obstruction and asphyxiation in critical situations, such as massive hematemesis, thereby necessitating the implementation of refined and context-specific airway management strategies.

Case description: We present the case of a 66-year-old male with recurrent tongue cancer who experienced a sudden episode of severe hematemesis, leading to acute respiratory distress and loss of consciousness. In this life-threatening situation, with limited resources, percutaneous transtracheal ventilation (PTV) was performed using basic, readily available equipment. The procedure was complemented by an intermittent oral-nasal occlusion technique to simulate breathing and maintain oxygenation. Despite challenges such as anatomical distortion and significant bleeding, these interventions successfully stabilized the patient's condition, raising oxygen saturation to 100%. Following stabilization, the patient underwent a complex tracheostomy.

Conclusions: This case underscores the effectiveness of combining fine-needle cricothyroid puncture with intermittent oral-nasal occlusion as a practical and resource-efficient method to maintain ventilation in emergency airway obstruction scenarios. This approach offers a valuable strategy for managing challenging airways in cancer patients, particularly when resources are scarce or time is critical.

Background: In poliomyelitis survivors, approximately 1% of patients experience long-term motor dysfunction, which includes symptoms such as reduced muscle strength, asymmetric paralysis, muscle atrophy, and joint deformities. These chronic sequelae contribute to the decline in their ability to maintain proper oral hygiene, leading to a significantly higher incidence of oral diseases and, ultimately, tooth loss. Oral implant technology provides a potential therapeutic solution for edentulous and partially edentulous patients. However, in such patients with pre-existing limitations, conventional dental implant surgery under local anesthesia (LA) is often complicated by greater operational constraints, higher technical complexity, and reduced safety. Therefore, general anesthesia (GA) is frequently employed to facilitate oral rehabilitation procedures in uncooperative patients, thus establishing the foundation for comprehensive dental care.

Case description: A 27-year-old woman with a history of poliomyelitis is scheduled to receive multiple dental implants in both her upper and lower jaws, along with a maxillary sinus lift, under GA. This procedure also got a digital restoration six months post-surgery. Postoperative assessments show successful integration of the implants and effective restoration.

Conclusions: Combining GA with implant technology presents a viable and effective treatment option for improving edentulous conditions in patients with physical and cognitive impairments.

Background: Spontaneous sternal fracture is an extremely rare cause of chest pain during or after childbirth. To date, only three cases of sternal fracture during childbirth have been reported. This case report represents the first documented case of spontaneous sternal fracture among multiparous women.

Case description: A 33-year-old multiparous woman with an uncomplicated medical history is described, who delivered a healthy fourth infant vaginally at 41 weeks of pregnancy. After the previous three deliveries, each child had been breastfed for more than a year, and the third delivery was eight months before conception, and she breastfed until 3 months of pregnancy. During the final stage of labor, while performing the Valsalva maneuver in the lithotomy position, she felt a sharp, severe chest pain. Postpartum work-up included cardioselective enzymes that were within reference values, and radiological work-up confirmed a non-displaced sternal fracture, which was treated conservatively with symptomatic therapy, with complete recovery after 6 weeks.

Conclusions: This case report suggests the need to consider sternal fracture as a differential diagnostic consideration in women who experience chest pain during or immediately after delivery. Changes in metabolism, especially calcium metabolism during pregnancy and lactation, can result in transient osteopenia and, with increased mechanical stress, cause bone fracture. Special attention should be paid to patients who breastfed immediately before conception or who breastfeed during pregnancy, to vitamin and mineral replacement therapy, adequate nutrition, and physical activity. Timely diagnosis of sternal fracture can significantly reduce the need for expensive and invasive diagnostic tests. Further research is needed on osteopenia in pregnant women, especially multiparous women who are breastfeeding immediately before conception or during pregnancy.

Background: Trastuzumab deruxtecan (T-DXd) significantly improves human epidermal growth factor receptor 2 (HER2)-positive metastatic breast cancer (MBC) outcomes. However, understanding of resistance mechanisms to T-DXd remains limited. Here, we present a case of a luminal B, HER2-positive MBC who displayed a partial response to T-DXd following five lines of prior HER2-targeted therapy but developed acquired resistance after 14 months of treatment. Organoid drug screening identified the potential strategy to overcome T-DXd resistance. Next-generation sequencing (NGS) of 550 cancer-associated genes was performed prior to T-DXd administration, and repeated after the emergence of T-DXd resistance.

Case description: We present a case of a luminal B, HER2-positive MBC. T-DXd was administered as the sixth-line regimen, resulting in a dramatic clinical response with near-complete resolution of the gluteal mass. After 14 months of therapy, the patient developed progressive cervical lymphadenopathy. Patient-derived organoids were generated, and subsequent drug screening was performed, which identified anlotinib plus T-DXd as a potential candidate regimen. She was then treated with anlotinib and T-DXd and had disease control for 6 months before progressive liver metastases were observed. Genomic analysis further revealed aberrations in the ErbB signaling and cell cycle pathways that might be implicated in the emergence of T-DXd resistance.

Conclusions: This case suggests that T-DXd resistance may be attributed to dysregulation in the ErbB signaling and cell cycle pathways. In vitro experiments are being conducted to ascertain the potential benefits of targeted inhibition of angiogenesis or cell cycle proteins in overcoming T-DXd resistance. Nevertheless, more cases and follow-up information are needed to support these views.

Background: Myocarditis due to systemic lupus erythematosus (SLE), also known as lupus myocarditis, is a rare but potentially life-threatening manifestation of this autoimmune disease. Although pericardial involvement is more commonly observed in SLE, myocarditis can occasionally lead to severe cardiac dysfunction and cardiogenic shock. Diagnosis can be challenging due to non-specific symptoms, and early recognition is crucial. Reports of cases requiring advanced circulatory support, such as venous-arterial extracorporeal membrane oxygenation (VA-ECMO), remain extremely limited in the literature.

Case description: We report the case of a 47-year-old woman with a known history of SLE who experienced sudden cardiac arrest at Osaka Keisatsu Hospital. Cardiopulmonary resuscitation was immediately initiated, and return of spontaneous circulation was achieved. Despite this, she remained in prolonged cardiogenic shock unresponsive to conventional therapy, prompting the initiation of VA-ECMO on the day of admission. Laboratory and imaging findings supported the diagnosis of lupus myocarditis and high-dose corticosteroid therapy was commenced promptly. Over the following days, her cardiac function gradually improved, and she was weaned off VA-ECMO on day 6. Remarkably, she demonstrated a full neurological recovery and was eventually discharged without significant sequelae.

Conclusions: This case highlights the severe cardiac complications that can arise in patients with SLE, particularly the rare occurrence of myocarditis leading to cardiogenic shock. The timely use of VA-ECMO provided essential hemodynamic support, allowing for patient stabilization and further management. Early diagnosis, aggressive management, and multidisciplinary care are critical to achieving favorable outcomes in such complex cases.

Background: Synaesthesia is a perceptual phenomenon where stimulation of one sensory modality leads to automatic experiences in another. While often congenital, acquired forms-particularly pharmacologically induced synaesthesia-are rare and poorly understood. Topiramate, an antiepileptic and migraine prophylactic agent, affects neuronal excitability and sensory integration, but its association with synaesthesia has rarely been documented.

Case description: We report the case of a 28-year-old male software engineer with no prior neurological or psychiatric history who developed auditory-visual synaesthesia two weeks after initiating topiramate for migraine prophylaxis. The patient consistently visualised specific colours in response to particular environmental sounds such as phone rings and rainfall. Clinical examination, neurological evaluation, and comprehensive diagnostic workup-including brain magnetic resonance imaging (MRI), audiological, and ophthalmological assessments-were normal, excluding structural lesions and primary sensory abnormalities. The symptoms, although non-distressing, significantly intrigued the patient, prompting medical consultation. Symptoms resolved gradually over eight weeks following discontinuation of topiramate, supporting a diagnosis of drug-induced synaesthesia. The patient was subsequently started on propranolol for migraine management, which was well-tolerated, effectively controlled migraines, and did not trigger any recurrence of synaesthetic experiences.

Conclusions: This case highlights a rare but clinically relevant side effect of topiramate and underscores the importance of thorough medication history in evaluating atypical sensory experiences. Primary care clinicians should consider pharmacological causes in sudden-onset synaesthesia, ensuring prompt identification, appropriate referral, and alternative treatment planning.

Background: Non-tuberculous mycobacteria (NTM), considered to be less virulent and being pathogenic. People with normal immune function are less likely to be infected. Systemic disseminated infections that spread to the abdominal tissues and organs such as the liver rarely occur with NTM.

Case description: Here, we perform a literature review and report a rare case of disseminated Mycobacterium fortuitum infection with involvement of the liver and hilar lymph node from a 44-year-old immunocompetent woman. The patient experienced prolonged fever and cholecystolithiasis with cholecystitis. Exploratory laparotomy revealed numerous white nodules covering the liver surface and enlarged lymph nodes in the hepatic hilum. Histopathological analysis showed inflammatory granulomas. Auramine O fluorescence staining and acid-fast staining revealed morphological features consistent with NTM. Fluorescence polymerase chain reaction (PCR) melting curve analysis confirmed the presence of Mycobacterium fortuitum. Following diagnosis, the patient was treated with rifampin, isoniazid, pyrazinamide, ethambutol, and clarithromycin. The fever subsided, abdominal pain resolved, and liver function improved, enabling the patient to be discharged. However, 3 months into continued oral administration of these medications, the symptoms recurred. Suspected drug resistance to Mycobacterium fortuitum prompted adjustment of the treatment regimen to alternative antimycobacterial agents. Despite these efforts, due to the unique characteristics of the infection site, repeated sampling for NTM culture and drug susceptibility testing was not feasible, making it impossible to select anti-NTM agents based on susceptibility results. Consequently, the therapeutic response was suboptimal, and the patient ultimately succumbed to multi-organ failure.

Conclusions: For patients with multi-organ disseminated infection involving the liver, conventional anti-tuberculosis drugs are less effective, and the infection continues to pose a serious threat that should be considered a high priority. When formulating NTM chemotherapy regimens, combination therapy should be selected based on drug susceptibility testing results, and ongoing monitoring of both drug sensitivity and safety should be ensured throughout the treatment process.

Background: Parahiatal hernias (PHHs) comprise of less than 1% of all diaphragmatic hernias and are frequently mistaken for paraesophageal hernias due to their close anatomical proximity to the esophageal hiatus. Unlike classic hiatal hernias PHH herniate laterally through a defect in the left crus separated from the esophageal hiatus. Because of their rarity and diagnostic ambiguity, PHHs are underrecognized and often incidentally found during imaging or endoscopy. The etiology can be congenital or acquired with known risk factors including trauma, prior esophageal and abdominal surgeries, or diaphragmatic weakness.

Case description: We present a case of a 73-year-old female with a history of small cell lung malignancy treated with thoracic radiation who was admitted for symptomatic anemia. While being evaluated for odynophagia and suspected esophagitis an esophagogastroduodenoscopy (EGD) initially revealed a paraesophageal hernia. However, upon further review of the EGD images it was diagnosed as a PHH. Notably, a previous EGD two years prior had shown no such hernia suggesting an acquired defect possibly radiation induced. The patient's symptoms improved with medical management for esophagitis and no surgical intervention was required due to the hernia's small size and absence of complications.

Conclusions: This case emphasizes the importance of distinguishing PHH from other hiatal hernias, particularly in elderly patients with complex medical histories. Misclassification may lead to inappropriate management especially if surgical repair is needed. While congenital and traumatic causes are well established this case introduces radiation therapy as a potential contributing factor to acquired PHH, a connection not previously documented in literature. Clinicians should maintain a high index of suspicion for PHHs during endoscopic or radiologic evaluation, especially when the hernia anatomy appears atypical. Early and accurate diagnosis is essential to guide appropriate treatment and prevent unnecessary surgical intervention if not indicated.

Background: Anaplastic lymphoma kinase (ALK) and ROS proto-oncogene 1 (ROS1) rearrangements are vital oncogenic drivers in non-small cell lung cancer (NSCLC), particularly in lung adenocarcinoma (LUAD), with positivity rates of 2.6% and 1.4% respectively, and are critical prognostic and predictive markers. These two rearrangements are mutually exclusive in most cases, and their co-occurrence is exceptionally rare in existing literature. Therefore, the clinical behavior, therapeutic responses, and optimal treatment strategies for this dual-rearranged subtype are poorly characterized. This case report aims to explore the efficacy of chemotherapy in this rare subtype.

Case description: A 47-year-old never-smoker woman presented with a persistent dry cough and dyspnea. Imaging and biopsy confirmed stage IV (cT2N2M1b) poorly differentiated LUAD with metastases to the mediastinal lymph nodes, pleura, and orbit. Comprehensive molecular profiling identified concurrent ALK and ROS1 rearrangements. The patient received first-line chemotherapy with pemetrexed (820 mg on day 1) plus cisplatin (40 mg on days 1-3) every 21 days and achieved a remarkable progression-free survival (PFS) of 48 months. Upon disease progression at four years, with new pulmonary and cerebral lesions, DNA-based next-generation sequencing (NGS) revealed an echinoderm microtubule-associated protein-like 4 (EML4) exon 13-ALK exon 20 fusion with a variant frequency of 10.33%. She was subsequently treated with ensartinib (225 mg once daily), yielding a favorable response. Treatment remains ongoing.

Conclusions: This case highlights that first-line pemetrexed-cisplatin chemotherapy can yield prolonged disease control in NSCLC harboring dual ALK/ROS1 rearrangements, followed effectively by targeted therapy. It underscores the importance of high-precision molecular profiling to guide sequential treatment strategies. Although tyrosine kinase inhibitors remain the cornerstone for ALK- or ROS1-positive NSCLC, the ideal initial approach for concurrent ALK/ROS1 fusions is yet to be established. Unless there are studies with large cohorts clarifying the case, an individualized regimen-potentially starting with chemotherapy and transitioning to targeted agents-may be justified. Further clinical experience and collaborative research are essential to develop evidence-based guidelines for this exceptionally rare subset.

Background: Leiomyosarcoma (LMS) is a rare form of malignant tumor affecting the small intestine, specifically the jejunum. It can cause intussusception, a condition wherein one segment of the intestine telescopes into another, leading to obstruction, ischemia, and necrosis. Small intestinal intussusception in adults is a rare clinical condition. The majority of affected individuals have pathological factors, such as tumors, polyps, diverticula, inflammation, or intestinal adhesions. Abdominal pain and bowel obstruction are the most common symptoms, but small bowel tumors are often not visible on endoscopy, making additional imaging essential for accurate diagnosis. Herein, we report the clinical presentation, diagnosis, and treatment of jejunal LMS-induced intussusception in an adult patient.

Case description: A 56-year-old female was first admitted to our hospital in June 2024 due to intermittent abdominal distension and pain with paroxysmal exacerbation, and her abdominal pain lasted for more than 10 days. There was no hematemesis or melena. Initial computed tomography (CT) scans showed no abnormalities, but subsequent imaging revealed a left mid-abdominal jejuno-jejunal intussusception. The histopathological and immunostaining findings indicated jejunal LMS without metastasis, and emergency laparotomy revealed an intestinal tumor at the intussusception site. The tumor was surgically resected, and postoperative follow-up is underway. To date, the patient remains well but has declined further recommended testing and therapy.

Conclusions: This case underscores the uncommon clinical presentation of LMS-induced intestinal intussusception in adults. Timely diagnosis and intervention are critical for improving survival outcomes in patients with LMS. Surgical resection remains the treatment of choice for eligible candidates.