AME Case Reports最新文献

Background: Immunoglobulin G4-related disease (IgG4-RD) is a rare autoimmune fibroinflammatory condition that can affect multiple organs. Sinonasal and orbital involvement is exceedingly uncommon and poses significant diagnostic challenges. These manifestations often mimic malignancy, chronic infection, or other inflammatory disorders, leading to delayed diagnosis and repeated investigations. This study aims to illustrate the diagnostic challenges and management of IgG4-RD and to increase awareness of this rare presentation among clinicians.

Case description: We present a case of a 52-year-old male with a history of diabetes mellitus who developed a left-sided nasal mass extending into the orbit, resulting in nasal obstruction, epistaxis, proptosis, and diplopia. Imaging revealed a sinonasal mass with orbital extension through the lamina papyracea, raising suspicion for invasive or neoplastic pathology. Initial biopsies were inconclusive, demonstrating chronic inflammatory changes with no evidence of malignancy, granulomatous disease, or invasive fungal infection. Despite surgical debulking and close follow-up, symptoms persisted and recurred. Multiple subsequent biopsies were performed, which continued to show non-specific inflammatory findings. Further evaluation revealed elevated serum IgG4 levels, and repeat histopathological analysis demonstrated dense lymphoplasmacytic infiltration with an increased number of IgG4-positive plasma cells and an elevated IgG4/IgG ratio, consistent with IgG4-related disease. Correlation of clinical features, radiologic findings, laboratory results, and histopathology confirmed the diagnosis of IgG4-RD involving the sinonasal cavity and orbit.

Conclusions: This case emphasizes the importance of maintaining a high index of suspicion for IgG4-RD in patients presenting with sino-nasal-orbital masses, considering the disease's rarity and non-specific initial symptoms. Early diagnosis through repeated tissue sampling and comprehensive evaluation is essential to avoid misdiagnosis and unnecessary interventions.

Background: Percutaneous endoscopic gastrostomy (PEG) provides long-term enteral nutrition in patients who cannot maintain adequate oral intake. However, altered gastric anatomy after sleeve gastrectomy can make PEG technically challenging because the stomach becomes narrow and tubular, limiting its distensibility. Although several reports describe PEG placement in patients with reduced stomach size, there is very limited data available for patients with a history of sleeve gastrectomy. This makes such cases unique and important to report, as they add to the limited experience and help guide clinicians in managing similar situations in the future.

Case description: We report a 64-year-old woman with a prior history of sleeve gastrectomy who was referred for PEG tube placement before starting radiotherapy for squamous cell carcinoma of the right buccal mucosa. The patient had previously undergone sleeve gastrectomy in 2010 without any adverse events and later had an incisional hernia repair. During the procedure, identification of the insertion site was initially difficult due to post-surgical changes and obesity. Using careful insufflation, transillumination, and the finger indentation method, a safe site was located and a 24-Fr PEG tube was placed using the pull (Ponsky-Gauderer) technique. The procedure was uneventful, and the patient remained stable post-procedure. She began PEG feeding 12 hours later and was followed up after 24 hours, 5 days, and 1 month, with no complications or tube-related issues.

Conclusions: This case highlights that PEG placement after sleeve gastrectomy is feasible when performed cautiously. With proper patient selection and technique, PEG can be safely achieved in surgically altered anatomy and can serve as an alternative to interventional radiology-guided methods.

Background: Extramammary Paget's disease (EMPD) is a rare malignancy of the skin arising in apocrine gland-rich areas, most commonly the vulva, scrotum, and perianal region. Often misdiagnosed due to resemblance to benign dermatologic conditions, EMPD presents diagnostic and therapeutic challenges. While localized disease usually has a favorable prognosis after surgery, metastatic EMPD is rare, with poor outcomes and limited options. Recent molecular profiling has identified human epidermal growth factor receptor 2 (HER2) overexpression as a potential therapeutic target. We present a clinical series of HER2-positive EMPD treated with targeted therapies and review the literature to assess their role in disease control and outcomes.

Case description: We report two cases of metastatic HER2-amplified vulvar EMPD treated with HER2-directed agents, including trastuzumab, pertuzumab, trastuzumab emtansine (T-DM1), and trastuzumab deruxtecan (T-DXd), and integrate our findings into a narrative review of reported cases. Both patients achieved clinical benefit from HER2-targeted therapy with disease control across sequential regimens.

Conclusions: We describe one of the first documented real-world cases of vulvar EMPD treated with T-DXd, showing a meaningful clinical response. HER2-positive metastatic vulvar EMPD may respond to targeted therapy, and T-DXd appears promising for disease control. Molecular HER2 testing should be incorporated into the diagnostic workup to guide therapy selection in this rare malignancy.

Background: Heterotopic gastric mucosa (HGM) and heterotopic pancreas (HP) are two relatively rare congenital disorders that typically occur independently in the esophagus and stomach and seldom leading have been to severe symptoms. In this study, we describe the simultaneous presence of these two ectopic tissues in the small intestine, which resulted in gastrointestinal perforation. This rare case underscores the significant pathogenic potential when HGM and HP coexist in an uncommon anatomical location.

Case description: A 16-year-old female underwent exploratory laparotomy due to suspicion of gastrointestinal perforation. During the surgical procedure, a perforation of the small intestine was identified, and a suspicious submucosal nodule was observed near the site of perforation. A partial small bowel resection with end-to-end anastomosis was subsequently performed. Postoperative pathological examination revealed that the nodule contained gastric fundic mucosa and pancreatic acinar cells. The patient's postoperative recovery was uneventful, with resolution of abdominal pain and successful resumption of a normal diet. The patient was discharged on the 15^th postoperative day.

Conclusions: We report a rare and instructive case of concurrent HGM and HP in the small intestine causing life-threatening perforation. Our analysis, supplemented by a review of the literature, indicates that the coexistence of these two ectopic tissues significantly increases the risk of severe complications compared to their isolated occurrence. This finding underscores the necessity for a heightened index of clinical suspicion for dual ectopia in patients with unexplained abdominal symptoms. Therefore, we propose that upon early identification of such dual ectopia, even if asymptomatic, a more proactive management strategy should be considered to prevent catastrophic complications like perforation.

Background: In clinical practice, primary thyroid lymphoma (PTL) is a rare malignant neoplasm, making up only 2-5% of all thyroid malignancies. The most common type of PTL is diffuse large B-cell lymphoma (DLBCL), which accounts for about 60-70% of thyroid lymphomas. Typically, patients present with a painless progressive growth of neck masses, accompanied by local compressive symptoms. Currently, accurate diagnosis and treatment selection for PTL are significantly challenging. Research on PTL involving the pyramidal lobe is relatively scarce, resulting in persistently high rates of misdiagnosis and missed diagnosis. Additionally, uncertainties remain regarding the optimal surgical resection range and chemotherapy dosage for such combined lesions.

Case description: Here, we report a case involving a 66-year-old woman with a 16-year history of hypothyroidism, who presented with typical compression symptoms. After surgical resection, the patient was diagnosed with DLBCL of the right thyroid and pyramidal lobe, based on pathology and then underwent rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP) chemotherapy. Following treatment, there was no recurrence or metastasis observed during the 6-month follow-up period.

Conclusions: This case proves that the incidence of pyramidal lobe lymphoma involvement in PTL is extremely low and prone to missed diagnosis. Perioperatively, we should strengthen the awareness of this issue to reduce the possibility of misdiagnosis and missed diagnosis. Meanwhile, with a clear pathological diagnosis, a reasonable and effective chemotherapy regimen can achieve excellent therapeutic effects. Local symptoms can also be effectively alleviated through surgical resection.

Background: Pulmonary artery sling (PAS) is a rare congenital vascular anomaly, in which the left pulmonary artery arises aberrantly from the right pulmonary artery and courses between the trachea and esophagus, often causing tracheobronchial compression. It is frequently considered within the spectrum of vascular rings. Prenatal diagnosis remains challenging yet crucial for optimizing perinatal management and neonatal outcomes. This case report illustrates the enhanced diagnostic capability achieved by integrating conventional two-dimensional (2D) ultrasound with spatiotemporal image correlation (STIC) technology for the accurate prenatal identification of PAS.

Case description: A 33-year-old gravida 2 para 0 woman was referred for routine fetal assessment at 31 weeks of gestation. Initial 2D ultrasonography in the three-vessel tracheal view revealed an anomalous vascular configuration, suggesting the left pulmonary artery (LPA) originating from the right pulmonary artery (RPA). To confirm the diagnosis and delineate the vascular course, STIC technology was employed. The STIC volumetric acquisition and subsequent multi-planar reconstruction unequivocally demonstrated the LPA arising from the RPA and coursing posteriorly behind the trachea, thereby confirming the diagnosis of PAS. A comprehensive fetal echocardiogram excluded associated intracardiac anomalies. Following extensive parental counseling, the pregnancy continued uneventfully. The infant was delivered via elective cesarean section at 38⁺² weeks and developed mild respiratory symptoms postnatally, requiring transient non-invasive support. Postnatal computed tomography angiography (CTA) confirmed the prenatal findings. Surgical correction was successfully performed at 3 months of age, with an excellent outcome at 6-month follow-up.

Conclusions: The synergistic use of routine 2D ultrasound and STIC technology provides a robust, clinically accessible method for the precise prenatal diagnosis of fetal PAS. This integrated imaging approach facilitates definitive diagnosis, enhances parental counseling, enables coordinated multidisciplinary perinatal planning, and ensures timely surgical intervention, all of which are pivotal for achieving favorable long-term outcomes in affected infants.

Background: Ocular tuberculosis (OTB) is difficult to confirm microbiologically, so diagnosis often rests on characteristic posterior segment phenotypes supported by systemic immunologic evidence and therapeutic response. This case series from a high-prevalence setting illustrates the heterogeneity of posterior OTB and provides practical diagnostic anchors, treatment approaches, and complication surveillance that are directly applicable to routine uveitis care.

Case description: Six immunocompetent males (28-46 years) presented with posterior disease entities that included: choroidal granulomas with papillitis; multifocal choroiditis with venous occlusion; bilateral granulomatous sclerouveitis with inactive multifocal/serpiginous-like choroiditis; choroiditis with occlusive vasculitis; bilateral serpiginous-like choroiditis; and unilateral occlusive vasculitis with vitreous hemorrhage. Four reported prior incarceration, all were human immunodeficiency virus (HIV)-negative. Pulmonary involvement was absent or limited, though chest computed tomography (CT) revealed cavitary or nodular changes in some patients. Diagnostic support comprised a positive tuberculin skin test (TST) and/or interferon-gamma release assay (IGRA), multimodal imaging, and subsequent anti-tubercular response. All patients received standard RIPE (rifampin, isoniazid, pyrazinamide, ethambutol) therapy with a tapered oral corticosteroid course. Most eyes achieved inflammatory quiescence by nine months; visual outcomes ranged from 20/20 in quiescent eyes to limited improvement where macular scarring or ischemic detachment occurred.

Conclusions: Posterior OTB may present without overt pulmonary disease and spans granulomatous, serpiginous-like, and occlusive vasculitic phenotypes. In endemic regions, early suspicion supported by TST/IGRA and multimodal imaging, followed by RIPE plus corticosteroids, can control inflammation and mitigate vision-threatening complications. Vigilance for secondary choroidal neovascularization (CNV) and timely surgical intervention is essential.

Background: Managing emerging infectious exposures in the context of urgent surgical intervention, where standard guidelines may not provide direct answer, can be challenging.

Case description: We present a unique case involving a 69-year-old female patient undergoing video-assisted thoracic surgery (VATS) for biopsy-confirmed adenocarcinoma of the right lower lobe (RLL). During preoperative preparation, a live Ixodes tick was found embedded in the patient's right flank, directly over the intended surgical site, accompanied by a large erythematous rash suggestive of erythema migrans. Despite the patient being asymptomatic of Lyme disease, this finding posed an important question of whether to delay a time-sensitive surgery or proceed through a potentially infected field. The tick was resected fully intact and sent to the path lab for analysis. In adherence with Centers for Disease Control and Prevention (CDC) and Infectious Diseases Society of America (IDSA) guidelines, and after infectious disease consultation, the surgical team proceeded with the surgery. The surgery and recovery proceeded uneventfully.

Conclusions: This case illustrates a rare intersection of vector-borne illness and thoracic oncologic surgery. It demonstrates that timely surgery can safely proceed, in the appropriate context, after complete tick excision. The case also underscores the importance of preoperative skin examination in endemic regions and the need for clinical guidelines when unexpected, rare infections occur at surgical sites.

Background: Spontaneous pneumothorax in a tuberculosis-induced destroyed lung is uncommon and challenging, particularly when surgery poses prohibitive risk. Practical, non-surgical strategies that reliably control persistent air leak are therefore needed.

Case description: A 48-year-old woman with prior pulmonary tuberculosis and a destroyed right lung presented with right-sided pneumothorax. On arrival, she maintained adequate oxygenation on room air and did not require supplemental oxygen. Despite appropriate chest drainage, a persistent air leak continued for more than 2 weeks. Chemical pleurodesis was performed via the chest tube using a combined regimen of minocycline 100 mg diluted in 50 mL normal saline plus 50 mL autologous blood (total instilled volume 100 mL). Because leakage persisted, a second pleurodesis with the same regimen was performed 48 hours later. Within 24 hours after the second procedure, the air leak ceased. Follow-up chest radiography confirmed re-expansion, the chest tube was removed on day 21, and the patient was discharged without complications. Outpatient follow-up at approximately 2 weeks, 1 month, and 3 months included chest radiographs at the first two visits; no recurrence was observed, and the patient reported satisfactory daily activity without dyspnea beyond baseline.

Conclusions: In high-risk patients with post-tuberculosis destroyed lung and persistent air leak, combined autologous blood and minocycline pleurodesis can provide effective, bedside control and avert surgery. This case details a simple two-step protocol with explicit dosing and timing that may be considered when operative management is unsuitable.

Background: Intradural dorsal arteriovenous fistula (AVF) is a rare spinal vascular malformation that primarily affects the blood-supplying arteries of the intradural dorsal. Its clinical manifestations are dominated by bilateral lower limb weakness and a lack of specificity in early symptoms, which can easily lead to underdiagnosis or misdiagnosis. Thus, the successful diagnosis of intradural dorsal AVF is difficult.

Case description: A 56-year-old woman presented with lower limb weakness for 3 months without significant sensory deficits. The patient has a history of hyperthyroidism, but the condition has been cured, and the patient is not currently taking any long-term medications. Upon admission, the patient reported no abnormal sensations related to urination or defecation. We performed muscle strength testing, which revealed a grade V-muscle strength in both lower limbs. Magnetic resonance imaging (MRI) of the lumbar spine showed abnormal vascular shadows in the lumbar spinal canal. Initially misdiagnosed as extradural AVF, right iliac artery angiography via digital subtraction angiography (DSA) revealed an AVF at the L3-4 segment, supplied by nerve root artery from sacral external arteries and drained through chondromalacia veins. Due to the tortuous and delicate nature of the vessels at the lesion site, the microcatheter cannot reach the affected area. Therefore, we opted for surgical treatment. During surgery, the fistula in intradural dorsal was found to be supplied by upward and downward radicular arteries, draining through a soft meningeal vein. The drainage veins were clipped using an aneurysm clip and subsequently resected by electrocoagulation. The operation was successful, with significant improvement in lower limb weakness to class V muscle strength. Postoperative MRI at 2 weeks showed disappearance of abnormal vascular shadow. During subsequent telephone follow-ups, the patient did not report any significant abnormalities.

Conclusions: Intradural dorsal AVF treatment aims to block arteriovenous shunts through surgical or endovascular methods. Surgical resection is the primary treatment. In this case, the long, narrow feeder arteries favored direct surgery. However, surgery risks trauma, cerebrospinal fluid leakage, infection, and neurologic injury; therefore, treatment decisions should consider fistula characteristics, vascular anatomy, and patient health status.