AME Case Reports最新文献

Background: Endobronchial carcinosarcoma is a rare and highly malignant tumor composed of both carcinomatous and sarcomatous elements. It typically affects middle-aged and elderly men, particularly those with a history of smoking. The prognosis is generally poor due to its high potential for early metastasis and local recurrence. This case report is unique due to the presentation of endobronchial carcinosarcoma, exhibiting a gloved finger sign, coarse calcifications, and high ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) uptake, along with an exceptionally favorable long-term survival after pneumonectomy (R0) without any neoadjuvant or adjuvant therapy.

Case description: A 48-year-old man with a 30-year history of chronic productive cough, a 1-month history of shortness of breath, and a significant smoking history presented to The First Affiliated Hospital of Guangzhou Medical University. Initial examinations revealed elevated neuron-specific enolase (NSE) and reduced partial pressure of oxygen. Computed tomography identified a branching tubular mass in the left upper lobe with a gloved finger sign and coarse calcifications. ¹⁸F-FDG positron emission tomography/computed tomography showed intense FDG uptake. Preoperative imaging showed atelectasis and pleural effusion. A bronchoscopic biopsy suggested carcinosarcoma, which was confirmed post-pneumonectomy. Pathological examination confirmed complete surgical resection (R0). Microscopic analysis revealed a mix of squamous cell carcinoma and sarcoma components, primarily osteosarcoma and chondrosarcoma. The patient has remained free of recurrence or metastasis for 7 years post-surgery, without any neoadjuvant or adjuvant therapy.

Conclusions: This case illustrates that the gloved finger sign may reflect early bronchial obstruction and prompt clinical evaluation. Despite preoperative imaging suggestive of disease progression, the patient underwent R0 pneumonectomy and has remained recurrence-free for 7 years without receiving neoadjuvant or adjuvant therapy. Exceptional long-term survival after R0 resection alone may be possible in some certain patients.

Background: Acute intestinal infarction caused by portal vein and mesenteric vein thrombosis (PVMVT) can be fatal and has a high mortality rate even if surgical resection is timely performed. The diagnosis of PVMVT is frequently delayed, which can be fatal owing to complications such as mesenteric ischemia and infarction with multiorgan failure. PVMVT-related intestinal infarction is extremely rare, with only sporadic cases reported in the literature around the world. In our study, we present a case of acute superior intestinal infarction secondary to extensive PVMVT that was successfully managed through prompt diagnosis and targeted intervention in a primary care center in China.

Case description: A 50-year-old man with no significant medical history presented at the emergency department with a 2-day history of severe abdominal pain and vomiting. Physical examination, laboratory investigations and Contrast-enhanced abdominal computed tomography revealed acute superior mesenteric infarction with extensive portal-mesenteric venous thrombosis. Given concern for acute superior intestinal necrosis, a diagnostic laparoscopy was performed. Then, the open surgery removed the infarcted intestinal segment and the mesenteric vein thrombosis (MVT), and performed an anastomosis and fixation of the sigmoid colon. Subsequently, percutaneous transhepatic portal vein angiography (PTPVA) was undertaken, followed by thrombectomy (TE), thrombolysis (TL), balloon angioplasty (BA), and stent placement. The patient was discharged home on postoperative day 15 with a prescription for long-term rivaroxaban. At the 2-month follow-up visit, he was recovering well and remains on long-term anticoagulation therapy.

Conclusions: Acute PVMVT is a rare and insidious disease that is associated with significant mortality and morbidity. Physicians must maintain familiarity with this rare condition to enhance patient quality of life and prevent intestinal infarction secondary to extensive PVMVT. This case underscores the importance of early recognition and multidisciplinary team (MDT) management, which may improve outcomes for affected patients globally.

Background: Ectopic thyroid tissue (ETT) is primarily caused by embryonic dysplasia. It is commonly located laterally in the neck or in the thyroglossal duct, as well as in more remote locations like the mediastinum and the subdiaphragmatic organs. The incidence of ETT is relatively rare, and the risk of malignant transformation is extremely low. The clinical symptoms of ETT are typically linked to the site of ETT involvement, and histopathological or biopsy examination is typically used to confirm the diagnosis of ectopic thyroid cancer.

Case description: We present a rare case of a 30-year-old woman with a mass in the neck, who was otherwise asymptomatic. Relevant examinations were performed before the surgery. However, a diagnosis of ectopic papillary thyroid carcinoma (PTC) with metastases in the lateral cervical lymph nodes was confirmed.

Conclusions: An excision of the anterior cervical mass and a lateral cervical lymphadenectomy were performed. Postoperative pathology revealed PTC in the anterior neck mass, with metastases to the lateral cervical lymph nodes. This case shows that thyroid cancer can originate from ectopic tissue, even when no thyroid lesions are present. Thus, early and accurate identification are essential to optimize the diagnosis and clinical treatment of ETT.

Background: The gene CDH1 is a tumour suppressor gene. When a pathogenic variant is acquired, it loses its function and can be associated with diffuse gastric and lobular breast cancer. The incidence in the general population is not high.

Case description: We present the case of a patient with diagnosed lobular breast cancer with the CDH1 mutation. In the described patient, breast cancer had been recognized before the pathogenic variant was identified; nevertheless, consequent medical procedures were used according to the guidelines. The treatment of the described patient was multistage, and both surgery and radiotherapy were used. The patient has remained under observation after the treatment. No signs of any local recurrence or dissemination of breast cancer have been observed. The cosmetic effect is satisfactory. The patient is professionally active and runs marathons.

Conclusions: Nowadays, the choice of treatment for patients with breast cancer also depends on genetic factors. It is connected with surgical and systemic therapies. Genetic factors should be known prior to the treatment, but CDH1 is not included in breast cancer panels. Very often, women with a mutation-related breast cancer decide on mastectomy, even after a successful breast-conserving therapy. As we show, previous radiotherapy is not a contraindication for the aesthetic surgery. Cosmetic effects, even after multistage procedures, are overall positive.

Background: Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy of the adrenal glands, characterized by a high potential for local invasion and metastasis. In pediatric patients, it often presents as a localized tumor with either benign or intermediate malignant potential. While ACC is considered rare in children, early diagnosis and intervention are critical for improving outcomes. This case report presents three children diagnosed with intermediate-potential malignant ACC, diagnosed at an early stage, and successfully treated with complete surgical resection.

Case description: The first case involves a 2-month-old female neonate presenting with signs of Cushingoid syndrome and a 5.5 cm left-sided stage II ACC. The second case describes a 3-year-old male who exhibited peripheral signs of precocious puberty with a 7 cm androgen-secreting right-sided stage II ACC. The third case involves a 2.5-year-old boy who presented with a hypertensive crisis-related seizure, adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome, and peripheral precocious puberty due to a 3.5 cm right adrenal stage I ACC. All three patients underwent successful complete resection of their respective tumors, with no signs of locoregional invasion or distant metastasis. Postoperatively, there was a complete resolution of the endocrine manifestations, such as Cushingoid features and precocious puberty. All three children underwent successful complete tumor resection, resolution of the endocrine findings and no recurrences after up to 4 years of follow-up.

Conclusions: This case report highlights the diverse clinical presentations of pediatric ACC, showcasing the various hormonal profiles and symptoms associated with the disease. It emphasizes the critical importance of early detection and complete surgical resection in improving patient outcomes. Although pediatric ACC is a rare and aggressive disease, these cases demonstrate that with appropriate intervention, favorable outcomes can be achieved, even in cases with intermediate malignant potential.

Background: Dengue is a prevalent arboviral infection in which ocular disease ranges from maculopathy and hemorrhage to vasculitis and retinal vascular occlusions, appearing during the acute phase or weeks later. Retinal vein and artery occlusions after dengue are uncommon but have been described in case reports and small series. Proposed mechanisms include thrombocytopenia with bleeding tendency, capillary leakage, and immune-mediated inflammation. The true frequency, risk factors, and patterns of bilateral or asymmetric ischemic involvement remain uncertain. We report serology confirmed mild dengue with hemiretinal vein occlusion (HRVO) in one eye and contralateral retinal nerve fiber layer ischemia in a patient without systemic comorbidities, expanding the recognized spectrum and underscoring the need for early ophthalmic assessment.

Case description: A 67-year-old male presented with sudden, painless vision loss in the right eye. The patient had a fever three days prior and was diagnosed with dengue fever (DF), confirmed by positive serology. Examination revealed macular edema and flame-shaped retinal hemorrhage in the right eye. Optical coherence tomography (OCT) disclosed ischemia of the retina nerve fiber layer in the left eye. The patient was treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections in both eyes.

Conclusions: This case highlights the potential link between dengue infection and retinal vascular events, emphasizing the need for prompt recognition and management, in order to avoid ocular complications, visual impairment and blindness.

Background: Cystic fibrosis (CF) predisposes patients to allergic bronchopulmonary aspergillosis (ABPA). The objective of this study is to enhance the recognition of CF-related ABPA (CF-ABPA) in adolescents through a detailed case study. A multidisciplinary management approach is essential. Early diagnosis and intervention could substantially improve outcomes, warranting further longitudinal research on optimized treatment protocols.

Case description: A 15-year-old patient presenting with persistent respiratory symptoms underwent a series of diagnostic tests, including serum immunoglobulin E (IgE) testing, chest computed tomography (CT), bronchoscopy, bronchoalveolar lavage metagenomic next-generation sequencing (mNGS), and whole-exome sequencing to identify CFTR mutations. The diagnostic findings revealed markedly elevated serum IgE levels (2,359.0 IU/mL), the presence of bronchiectasis with mucus plugging on CT imaging, and mNGS detection of Aspergillus fumigatus with an abundance of 97.28%. The diagnosis of CF-ABPA was confirmed by identification of a pathogenic CFTR mutation. Later antifungal therapy and corticosteroids produced notable clinical improvement.

Conclusions: CF was under-recognized historically, but this case shows that it is a clinically important cause of bronchiectasis and ABPA in Chinese adolescents. The identification of Aspergillus was accurate with the mNGS. Genetic test confirmed that the subject is a CF patient with compound heterozygous mutations in CFTR gene. The finding urges the clinician to have a high index of suspicion for the CF-ABPA in those with asthma-like refractory symptoms with structural lung disease. When diagnosed early and accurately, antifungal therapy and inhaled corticosteroids can be administered timely. The patient experienced a notable improvement both clinically and radiologically, as well as functionally. The future work should promote awareness of this clinical entity and systematic screening of similar patients in China. Further multicenter studies are necessary to formulate diagnostic and therapeutic guides for CF-ABPA in Asia.

Background: Umbilical disorders in neonates are frequently benign, with umbilical granulomas, hernias, and transient inflammatory changes representing the majority of presentations. However, persistent or atypical umbilical findings may signal rare congenital anomalies originating from incomplete involution of the urachus or the omphalomesenteric duct. Early recognition of these conditions is crucial to avoid misdiagnosis, unnecessary antibiotic exposure, or delayed referral.

Case description: We describe a 27-day-old term newborn, previously healthy, who initially presented with a single vesicular scalp lesion in the context of household varicella exposure. During hospitalization, she developed new-onset erythema, edema, and clear umbilical discharge from a pre-existing small reducible umbilical lump. Despite the local inflammatory appearance, she remained clinically well, with normal white blood cell count and a C-reactive protein of 10 mg/L. Urinalysis showed no abnormalities. Abdominal ultrasound (US) demonstrated a tubular hypoechoic structure connecting the bladder dome to the umbilicus, compatible with a patent urachus. Conservative management with topical fusidic acid and antiseptic care led to rapid improvement, with resolution of inflammatory signs within 4 days. The patient was discharged asymptomatic and referred to pediatric surgery, where she remains under outpatient follow-up with elective surgical excision planned.

Conclusions: This case highlights the importance of reassessing neonatal umbilical abnormalities that deviate from typical benign patterns. Early imaging, particularly US, is essential for distinguishing urachal anomalies from more common umbilical conditions and for guiding management. Increased clinical awareness can help prevent underdiagnosis of these rare but clinically relevant lesions.

Background: Empyema is a life-threatening pleural infection that can result from various bacterial sources. While oral anaerobic bacteria are recognized as potential pathogens, severe empyema caused by mixed oral anaerobic bacterial infection remains clinically rare. Recent advances in metagenomic next-generation sequencing (NGS) have improved the etiological diagnosis of complex infections. This case demonstrates the clinical significance of NGS technology and oral health in preventing systemic infections.

Case description: An 80-year-old male with poor oral hygiene and multiple dental caries presented with acute onset of left-sided chest pain, chills, and fever. Physical examination revealed diminished breath sounds over the left lung. Imaging studies confirmed left-sided empyema. Pleural fluid NGS identified mixed oral anaerobic bacteria including Porphyromonas gingivalis, Prevotella intermedia, Fusobacterium nucleatum, and Finegoldia magna. The patient underwent thoracoscopic empyema debridement, with postoperative tissue pathology showing suppurative inflammation with fibrinous necrosis. Surgically excised tissue NGS additionally detected Finegoldia magna along with Epstein-Barr virus and human herpesvirus 6. Following targeted anti-infective therapy with meropenem and metronidazole, the patient recovered successfully.

Conclusions: This case highlights the critical role of NGS technology in identifying mixed oral anaerobic pathogens and guiding precision-targeted treatment of empyema. The atypical presentation of empyema caused by oral anaerobic bacteria warrants early surgical intervention combined with appropriate antimicrobial therapy. Our findings emphasize the importance of oral health maintenance in preventing life-threatening systemic infections and broaden our understanding of oral-systemic disease relationships.

Background: The management of advanced thyroid malignancies, particularly poorly differentiated thyroid carcinoma (PDTC), presents significant diagnostic and therapeutic challenges, especially when there is unusual bone involvement. While thyroid cancers typically do not exhibit local invasion to surrounding tissues until advanced stages, this case underscores the necessity for prompt diagnosis and a multidisciplinary approach to treatment to improve patient outcomes. The rarity of sternal infiltration by thyroid cancer and the complexities involved in surgical interventions highlight the need for awareness among healthcare professionals regarding potential diagnoses and treatment pathways.

Case description: We present the case of a 52-year-old male who presented with a painful, progressive anterior chest mass that was diagnosed as bone-infiltrating PDTC. Initial evaluations, including imaging and biopsies, revealed extensive infiltration of the sternum and surrounding structures originating from the thyroid gland. Following an interdisciplinary tumour board discussion, the patient underwent an en bloc resection of the thyroid gland along with affected chest structures and reconstruction with human acellular dermis. Postoperatively, he received radioactive iodine therapy. Despite initial management, follow-up imaging at six months indicated the emergence of bone metastases, prompting the initiation of external beam radiation therapy and recommendations for systemic treatment with a tyrosine kinase inhibitor.

Conclusions: This case illustrates the diagnostic complexities and aggressive treatment required for advanced thyroid malignancies with rare bone involvement. Highlighting the importance of a timely and collaborative approach, it emphasizes that surgical intervention, while challenging, can still offer potential for local control in carefully selected patients. However, the case also serves as a reminder of the necessity for ongoing surveillance and the readiness to adapt treatment strategies in response to emerging metastatic disease, contributing to our understanding of management protocols for similar cases in clinical practice.