American Journal of Case Reports最新文献

BACKGROUND Coronary artery anomalies (CAAs) are rare congenital conditions, with an incidence of approximately 0.01-0.03%. While often asymptomatic and discovered incidentally, certain variants carry serious prognostic implications. Among these, an anomalous left anterior descending (LAD) artery arising from the right coronary artery (RCA) with an inter-arterial course between the aorta and pulmonary artery is considered malignant due to its association with myocardial ischemia and sudden cardiac death, particularly in young adults. Early recognition and tailored management are therefore essential. CASE REPORT We describe the case of a 37-year-old man with a background of dyslipidemia, heavy smoking, and illicit drug use who presented with recurrent chest pain and suspected acute coronary syndrome. Electrocardiography revealed anteroseptal ST-segment elevation, although initial troponin was negative. Coronary angiography demonstrated an anomalous LAD originating from the RCA, with myocardial bridging at the mid-segment. Computed tomography coronary angiography confirmed a malignant inter-arterial course. A submaximal stress SPECT perfusion study achieved 77% of target heart rate, reproducing chest pain and revealing a small, reversible perfusion defect in the anteroseptal wall, consistent with ischemia. Despite optimal medical therapy, the symptoms persisted. He underwent on-pump coronary artery bypass grafting (CABG), and his postoperative recovery was uneventful. CONCLUSIONS An anomalous LAD with a malignant course is a potentially life-threatening condition. Multimodality imaging, functional assessment, and definitive surgical revascularization are critical to preventing adverse outcomes. This case highlights the importance of considering coronary anomalies in patients with unexplained or recurrent chest pain.

BACKGROUND Statins are widely prescribed for managing hypercholesterolemia and reducing cardiovascular risk but can cause myotoxicity ranging from mild myalgia to severe rhabdomyolysis. While statin-induced rhabdomyolysis typically manifests early, delayed-onset presentation is rare and poses diagnostic challenges. We report a rare case of delayed-onset rhabdomyolysis associated with rosuvastatin in a 63-year-old woman. CASE REPORT A 63-year-old woman with coronary artery disease, hyperlipidemia, and hypertension, which had been well-controlled on rosuvastatin (40 mg/day) for 1 year without adverse effects, developed progressive bilateral lower-limb swelling, pain, and weakness. One week after a fall attributed to sudden leg weakness, she presented to the emergency department with bilateral lower-extremity edema and moderate-to-severe pain on palpation. Laboratory findings showed markedly elevated creatine kinase (CK, 26 000 U/L), mildly elevated creatinine (1.3 mg/dL), and abnormal liver function. Rosuvastatin was discontinued on admission, and intravenous hydration was initiated. Magnetic resonance imaging confirmed diffuse muscle edema. A muscle biopsy revealed myofiber degeneration consistent with rhabdomyolysis, excluding autoimmune myopathies. CK peaked at 31 080 U/L on day 3, then declined with treatment. By day 10, CK and creatinine had returned to normal levels, muscle strength had improved, and the patient's edema had resolved. She was discharged after 2 weeks without restarting statins. CONCLUSIONS This case highlights the rare occurrence of delayed-onset statin-induced rhabdomyolysis, emphasizing the need for vigilant monitoring, prompt recognition, and cessation of statins to prevent severe complications, including acute kidney injury. Clinicians must remain alert to the potential of statin-induced myopathy, even in previously unaffected patients.

BACKGROUND Methamphetamine use has dramatically increased among young adults worldwide, contributing to a surge in cardiovascular complications. While typically associated with QT prolongation, nonspecific ST-T wave abnormalities, and tachyarrhythmias, high-grade atrio-ventricular (AV) blocks are exceedingly rare. Methamphetamine's sympathomimetic effects usually enhance AV nodal conduction, making bradyarrhythmia an unusual presentation. CASE REPORT A 40-year-old man with methamphetamine dependence presented with dyspnea, bilateral lower-extremity edema, and intermittent chest pain. He admitted to recent methamphetamine use earlier that day and requested detoxification. Initial vital signs revealed sinus tachycardia (123 bpm) and systolic blood pressure in the 130 s to 150 s mmHg. A physical exam showed an S3 gallop, a displaced point of maximal impulse, and a soft systolic murmur. Continuous telemetry monitoring later revealed a 2: 1 AV block. Subsequent electrocardiogram captured a transient 3: 1 AV block preceded by PR prolongation, following a period of sinus tachycardia and coinciding with apnea and oxygen desaturation for both events. Echocardiography showed severe global hypokinesis and a left ventricular ejection fraction (LVEF) of 20%. Cardiac MRI demonstrated severe biventricular dilation and dysfunction, prominent trabeculations, and a suspected LV thrombus without late gadolinium enhancement. Nuclear imaging was negative for amyloidosis. The patient underwent dual-chamber implantable cardioverter-defibrillator (ICD) placement for primary prevention of sudden cardiac death and pacing support and was discharged in stable condition. CONCLUSIONS This case illustrates the potential for methamphetamine toxicity to unmask distal conduction system disease. Early recognition is critical, as such presentations can progress to complete heart block requiring permanent pacing.

BACKGROUND Shepherd's crook deformity, a rare and severe skeletal malformation, is characterized by a distinctive shepherd's crook-like curvature of the proximal femur. This pathological condition manifests as a marked reduction in the femoral neck-shaft angle (typically measuring less than 90 degrees). The deformity is most frequently observed in patients with fibrous dysplasia (FD), where it is a hallmark skeletal manifestation of the disease. CASE REPORT A 12-year-old boy presented with progressive deformity of both lower limbs. Physical examination revealed a typical "shepherd's crook" deformity of both femurs with associated abnormalities of the left tibia and fibula. Radiographic findings confirmed polyostotic fibrous dysplasia affecting multiple bones and causing severe lower-limb malalignment. Preoperative three-dimensional (3D) CT reconstruction and digital planning were performed to design an individualized osteotomy, and a patient-specific surgical guide was fabricated to ensure accuracy. Postoperative imaging demonstrated restoration of anatomical axes and improved mechanical alignment. Measurements showed a right femoral neck-shaft angle of 125.7°, a left angle of 129.1°, and a residual limb length discrepancy of 9 mm. The patient recovered well without complications. CONCLUSIONS This case report demonstrates the integration of preoperative virtual surgical planning with 3D-printed patient-specific guides for precise correction of femoral shepherd's crook deformity, exemplifying the clinical application of digital orthopedic technologies in complex skeletal reconstruction.

BACKGROUND Autoimmune encephalitis (AIE) is considered one of the challenging neurological diseases marked by various neuropsychiatric symptoms. These symptoms can manifest as cognitive deficits, seizures, and status epilepticus. Diagnosis can often be complex due to the diverse clinical presentation and the absence of detectable neuronal autoantibodies. CASE REPORT We report the case a 27-year-old man who presented with generalized tonic-clonic seizures, headache, and fever, initially treated as infectious meningoencephalitis. He was given extensive antiviral and antibiotic treatment, but his condition did not improve and he developed refractory status epilepticus. Further investigations using cerebrospinal fluid analysis revealed no infectious cause. This raised a clinical suspicion of AIE, which yielded the use of the "possible AIE criteria." An initial brain magnetic resonance imaging (MRI) scan revealed asymmetrical bilateral cortical areas of abnormal hyperintensities on T2-weighted images with diffusion restriction involving the temporal, frontal, and parietal lobe. Due to the high suspicion of AIE, corticosteroids and plasmapheresis were initiated, leading to marked clinical improvement and significant seizure control with the resolution of fever. A follow-up MRI 4 weeks later showed a significant decrease in the hyperintensities previously depicted on FLAIR, T2-weighted images, and DWI. CONCLUSIONS The diagnosis of seronegative AIE can be challenging because detectable neuronal autoantibodies can be absent. This emphasizes that early suspicion of AIE and the initiation of empirical immunotherapy are crucial for improving patient outcomes, reducing mortality and long-term complications, even with negative or pending autoantibody testing. Further research is needed to improve diagnostic and therapeutic approaches, particularly in regions where antibody testing is limited.

BACKGROUND Malignant peritoneal mesothelioma (MPM) is a rare subtype of malignant mesothelioma (MM) that arises from mesothelial/serosal surfaces of the peritoneal lining and carries a poor prognosis. Given the rarity of this disease, many expert groups such as the Peritoneal Surface Oncology Group International (PSOGI) and the National Comprehensive Cancer Network (NCCN) have developed recommendations to guide the optimal treatment for MPM. Currently, the standard of care for resectable MPM is a combination of cytoreductive surgery (CRS) followed by hyperthermic intraperitoneal chemotherapy (HIPEC). There are no clear guidelines for treatment of inoperable malignant mesothelioma, but several studies have demonstrated a benefit of incorporating immunotherapy in the treatment plan. CASE REPORT We present a case of a 63-year-old woman who sought medical attention for several months of persistent vague abdominal discomfort, weight loss, and night sweats. Laboratory workup and diagnostic imaging led to the diagnosis of borderline/unresectable MPM. A multidisciplinary tumor board discussion based on the published literature and guidelines on malignant mesothelioma (MM) was undertaken, and the decision was made to treat the patient with nivolumab-ipilimumab in the perioperative period. The patient had a positive clinical response allowing for subsequent CRS and HIPEC. She remains disease free 30 months following her surgery, with the intention to continue the immunotherapy. CONCLUSIONS This case report contributes to the current literature demonstrating a potential role for perioperative immunotherapy in the treatment of aggressive subtype or borderline resectable/unresectable MPM and a bridge to consolidative CRS/HIPEC.

BACKGROUND Transcranial magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy has become an established and effective therapeutic option for patients with essential tremor (ET) who do not adequately respond to medication. Although generally safe and minimally invasive, this procedure is lengthy and highly interactive; it requires patients to remain awake, cooperative, and motionless for several hours. Intraprocedural side effects (SEs) are relatively common. Reports frequently describe symptoms such as vertigo, scalp burning sensation, nausea, perioral paresthesia, headache, and reduced patient cooperation. Management of these issues usually relies on pharmacologic interventions, including anxiolytics or analgesics, which may interfere with patient responsiveness. Non-pharmacologic strategies have received far less attention. To date, the potential role of hypnosis, either before or during MRgFUS, has not been explored in this context, although it may reduce SEs and promote greater patient comfort. CASE REPORT We describe a 75-year-old woman with longstanding, medication-refractory ET who underwent MRgFUS thalamotomy targeting the ventral intermediate nucleus of the thalamus. Before the intervention, a standardized hypnosis protocol was implemented for both emotional and physical preparation. During frame fixation and pre-procedural stages, guided hypnosis was provided. Patient-directed self-hypnosis was performed during the sonication process. No sedatives or anxiolytics were administered. The patient tolerated the procedure exceptionally well, without complications, interruptions, or pharmacologic support required; she expressed strong satisfaction with the experience. CONCLUSIONS These observations suggest that hypnosis represents a safe, feasible, and effective non-pharmacologic adjunct to MRgFUS thalamotomy, with the potential to reduce intraprocedural SEs and enhance patient cooperation.

BACKGROUND DEGCAGS syndrome is an exceptionally rare genetic disorder caused by mutations in the ZNF699 gene. It presents with a broad spectrum of clinical features, including neurodevelopmental delays and dysfunction or anomalies affecting the gastrointestinal, cardiovascular, genitourinary, and skeletal systems. Although these features have been described in the literature, reports of airway complications remain exceedingly rare. This report describes the case of a 1-year-old infant with a confirmed diagnosis of DEGCAGS syndrome who presented with progressive stridor and respiratory distress. CASE REPORT A 1-year-old girl with DEGCAGS syndrome (confirmed by ZNF699 mutation via whole-exome sequencing) presented with progressive stridor, hoarseness, respiratory distress, and feeding difficulties since birth. Despite prior suspicion of congenital laryngomalacia, her symptoms persisted. Clinical evaluation revealed microcephaly, coarse facial features, oropharyngeal masses, and developmental delay. Computed tomography and magnetic resonance imaging identified a nasopharyngeal soft-tissue mass and vocal cord edema. Fiberoptic nasopharyngoscopy demonstrated bilateral vocal cord dysfunction and laryngomalacia. Surgical resection of nasopharyngeal and tongue-base masses with supraglottoplasty was performed. Histopathology confirmed hamartomas. Postoperatively, the patient required transient ICU support but achieved stable respiration and normal feeding by discharge. Follow-up at 2 months revealed no recurrence or functional deficits. CONCLUSIONS To the best of our knowledge, this is the first documented case of multiple laryngeal hamartomas in a patient with DEGCAGS syndrome. This case emphasizes the need for heightened clinical vigilance in recognizing rare complications in genetic disorders and underscores the importance of a multidisciplinary approach to diagnosis and management.

BACKGROUND Pseudoachalasia is a rare condition, with up to 4% of cases presenting with achalasia-like symptoms. The early diagnosis of pseudoachalasia can be challenging due to nonspecific manifestations and the limited diagnostic yield of imaging modalities. This report presents the case of a 62-year-old man with a delayed presentation of pseudoachalasia with negative results of various diagnostic methods. CASE REPORT A 62-year-old man with long-term tobacco use and gastroesophageal reflux disease presented with a 2-year history of dysphagia, progressively worsening in the 2 months before this admission. Esophagogastroduodenoscopy (EGD) demonstrated an increased difficulty passing through the esophagogastric junction (EGJ) within a 1-month period. High-resolution manometry suggested EGJ outflow obstruction. Chest magnetic resonance imaging and a computed tomography scan showed a small nodule of the upper lobe of the left lung, suspected to be a tuberculosis lesion, no dilated esophagus, mild thickening of the muscle layer of the distal esophagus, and EGJ. An endoscopic ultrasound was performed, and no clues of malignancy were found. After a failed peroral endoscopic myotomy, a nasogastric tube was placed for nutrition support. Multiple biopsies produced normal findings. After 3 sessions of pneumatic dilation, with rapid recurrence of dysphagia and a failed stent replacement, surgical intervention was performed, revealing adenocarcinoma at the EGJ. CONCLUSIONS Pseudoachalasia due to EGJ adenocarcinoma should be suspected in patients without weight loss, regardless of the duration of symptom onset or imaging findings. Surgical exploration may be warranted early in selected patients when a definitive diagnosis of pseudoachalasia remains elusive despite extensive investigation.

BACKGROUND Irritation fibroma (IF) is a benign reactive exophytic oral lesion arising from chronic trauma, most frequently found on the buccal mucosa, tongue, and lips. Its association with a diastema is a rare occurrence. While typically asymptomatic, such lesions can enlarge due to repeated irritation. This report documents a case of a tongue-tip IF in a 53-year-old woman, caused by trauma from a mandibular midline diastema. CASE REPORT A 53-year-old woman presented with a 2-year history of a firm, asymptomatic nodule on the tip of her tongue that enlarged during eating. Intraoral examination revealed a 0.5-1 cm, well-circumscribed nodule and a 2-4 mm diastema between the mandibular central incisors. The lesion was attributed to the patient's habit of repetitively rubbing her tongue against the diastema. The fibroma was completely excised using a diode laser under local anesthesia, a method chosen for its hemostatic properties and patient comfort. Histopathological examination of the excised tissue confirmed the diagnosis of irritation fibroma. Postoperative healing was uneventful, and no recurrence was observed at a 12-month follow-up visit. CONCLUSIONS This case shows that dental diastemas can serve as a source of chronic trauma and must be considered an etiological factor in the development of irritation fibromas. Identifying and eliminating the source of trauma is crucial to preventing recurrence. Diode laser excision proved to be an effective and minimally invasive treatment modality, ensuring precise removal and excellent healing.