AME Case Reports最新文献

Background: Wilson's disease (WD) is a rare genetic disorder characterized by copper accumulation in the body, leading to a spectrum of health issues, such as liver disease, neurological disturbances, and psychiatric disorders. In recent years, there has been increasing recognition that WD can also result in osteoarticular defects. Research has shed light on the potential of WD to cause these findings, which in some instances, can progress to osteoarthritis and persistent pain. However, the exact pathophysiological process through which WD leads to osteochondral defects remains unclear.

Case description: We present a case of a 30-year-old male diagnosed with WD exhibiting musculoskeletal symptoms. The patient's medical history revealed chronic intermittent knee pain. Radiographic and magnetic resonance imaging (MRI) studies revealed a substantial osteochondral lesion with high-grade chondral fissuring. This report reviews the proposed pathophysiology of orthopedic pathology in WD, offers an updated literature review, and provides clinical recommendations for management. Treatment options including nonsurgical options and surgery are discussed.

Conclusions: This case underscores the significance of identifying the orthopedic manifestations of WD, even in the absence of classic signs and symptoms. Any WD patient suspected of having osteoarticular defects should be thoroughly evaluated, with a low threshold for initiating imaging studies. Moreover, treatment plans should be tailored to the patient's specific presentation, emphasizing the importance of individualized patient care. This case highlights key findings in WD and provides important insights, particularly on the clinical relevance of osteoarticular defects in WD, the potential application of nonsurgical and surgical treatments, and the importance of individualized patient care in the management of WD.

Background: Granulomatosis with polyangiitis (GPA) is a systemic autoimmune disease characterized by necrotizing granulomatous vasculitis of the small- and medium-sized vessels. Classical GPA affects the upper and lower airways and kidneys. It commonly affects the nose and paranasal sinuses, middle and inner ear, and subglottic region of the larynx. Therefore, otolaryngological involvement is common in GPA and can sometimes be the initial presentation. In rare cases, otologic signs and symptoms can be the initial manifestations of this disease, including recurrent otitis media, otitis media with effusion, and sensorineural hearing loss.

Case description: In the present study, we describe an atypical case of GPA of a 22-year-old female. The patient presented with severe and complicated otitis media with hearing loss and polyneuropathy (facial nerve paralysis and trigeminal nerve impairment), in addition to nasopharyngeal and parotid infiltration, in the absence of other otolaryngologic and systemic manifestations of GPA.

Conclusions: The diagnosis of GPA can be challenging due to its wide range of clinical manifestations. Otologic signs and symptoms are rare in this disease and can sometimes be the initial manifestations. Early diagnosis and treatment are important to prevent serious and permanent complications of the disease. Otolaryngologists should have high index of suspicion to systemic diseases such as GPA.

Background: Reasonable nutritional intervention is very important to promote wound healing and rehabilitation in patients with radical esophagectomy for esophageal cancer. This report aims to summarize the experience of nutritional and continuous nursing intervention in a patient who underwent radical resection of esophageal cancer after liver transplantation, by testing a comprehensive approach to optimize nursing plans in similar clinical practice. We hope that the implementation of home enteral nutrition can improve the nutrition status and quality of life of postoperative patients.

Case description: A patient with liver transplantation was admitted to The Fourth Hospital of Hebei Medical University for postoperative care. The nursing intervention were subsequently summarized and analyzed. In July 2023, the patient successfully underwent radical resection for esophageal cancer. Following the operation, the patient received regular medication and on-site nutritional intervention with the consent of her family. At discharge, the prealbumin, albumin, total protein and hemoglobin values of the patient were low, and body weight was 91 kg. The patient's nutritional risk screening (NRS2022) score was 5 points, and the Patient-Generated Subjective Global Assessment (PG-SGA) score was 4 points. After discharge, the patient continued to receive family enteral nutrition treatment, dietary guidance and psychological nursing. A follow-up review conducted 4 weeks after discharge showed improvements in the patient's NRS2022, albumin, total protein, hemoglobin, and body weight.

Conclusions: Strengthening postoperative nutritional intervention are vital for promoting rehabilitation in patients who undergo radical resection of esophageal cancer after liver transplantation.

Background: Intravenous leiomyomatosis (IVL) is a special type of uterine leiomyoma and is rare. Intravenous lipoleiomyomatosis (LPL) is a rare subtype of IVL, distinguished by the presence of adipose tissue. Although histologically benign, this disease exhibits aggressive biological behavior such as local invasion and high recurrence rate. The disease initially presents with no obvious clinical features, and cardiac symptoms may only appear in the later stages. Diagnosis primarily relies on imaging studies, and due to its rarity and atypical clinical presentation, imaging diagnosis can be challenging, leading to misdiagnosis and missed diagnosis. Previously, there was no report on the imaging findings of this disease.

Case description: This article reports a case of a 52-year-old patient who presented with lower abdominal discomfort due to IVL, and who underwent surgical resection and had a good recovery.

Conclusions: This is the first time we report the imaging features of a disease of intravenous LPL with an extension of the inferior vena cava (IVC), and its characteristic imaging features [ultrasound shows a mass with high echogenicity, computed tomography (CT) shows low-density signal similar to fat, magnetic resonance imaging (MRI) shows high signal on T1-weighted (T1W) image and low signal on T1W with fat-suppression (T1FS)] can lead to an accurate preoperative diagnosis and guide clinical treatment.

Background: Papillary thyroid cancer (PTC) is the most common type of well-differentiated endocrine malignancy. Generally, thyroid nodules with multiple oncogenic mutations are uncommon with an occurrence which may be related to more aggressive biological behavior of tumors. RET/PTC rearrangement, RAS, and BRAF mutations are considered to be mutually exclusive in PTC. Concomitant RET/PTC, RAS, or BRAF mutations have been documented, although the impact of these mutations for tumor growth and survival is debated.

Case description: Here we present a rare case of woman 46 years old with a neck mass and thyroid nodule classified as TIR5 on cytological examination. We found contemporary BRAF p.(Val600Glu) [p.(V600E); c.1799T>A] and NRAS p.(Gln61Arg) [p.(Q61R); c.182A>G] mutations in morphologically different areas within the same lobe (the right one); The two lesions show different morphology. The mutated BRAF lesion showed morphological characteristics compatible with classic papillary carcinoma. The mutant NRAS lesion shows morphological features compatible with follicular variant papillary carcinoma. To the best of our knowledges, this is the first time that such mutations, which are normally mutually exclusive, have been detected at the same time.

Conclusions: The finding of synchronous mutations is a rare occurrence suggesting for intratumoral heterogeneity (ITH) even in PTC. Patients with multiple mutations have a clinical worse prognosis, generally characterized by an aggressive thyroid cancer, which may influence the surgical treatment, chemotherapy, and BRAF V600E mutation-targeting therapy.

Background: Subungual exostosis is a type of heterotopic ossification, which often has unclear margins. Therefore, marginal resection may cause recurrence and wide resection is sometimes required to achieve a complete cure. However, wide resection may cause postoperative nail deformity and revision of this deformity is generally difficult. The primary treatment of subungual exostosis is surgical treatment, and there have been no comprehensive reports on the efficacy of adjunctive treatments. Although postoperative electron beam irradiation has been successfully used after heterotopic ossification excision to prevent recurrence, there are no reports on the use of this procedure following subungual exostosis resection.

Case description: Herein, we report a case of refractory subungual exostosis that developed as a result of chronic irritation and inflammation caused by an ingrown nail and recurred after initial resection. We performed marginal resection of the lesion to preserve the nail matrix and nail bed as possible, a two-stage skin grafting procedure, and electron-beam irradiation to prevent recurrence.

Conclusions: Excellent results were achieved both in terms of complete cure and cosmetic appearance, suggesting that electron-beam irradiation following refractory subungual exostosis excision may help prevent its recurrence. We expect a further study including many cases of subungual exostosis treated with postoperative electron-beam irradiation to be conducted.

Background: Anomalous right coronary artery from pulmonary artery (ARCAPA) is one of four known anomalies of the coronary arteries originating from the pulmonary artery. ARCAPA is a rare congenital anomaly that is associated with possible long-term complications including myocardial ischemia and left ventricular dysfunction. Clinical presentation can vary from asymptomatic murmur to angina, dyspnea, fatigue, congestive heart failure, myocardial infarction and even cardiac arrest.

Case description: We present a case of a 52-year-old male who presented to the hospital for intermittent chest pain. The patient was vitally stable and examination was unremarkable. Upon workup, electrocardiogram (EKG) on admission showed no acute ischemic changes and troponin were <0.03 ng/mL. The patient was evaluated by cardiology and had a dobutamine stress echocardiogram (ECHO) for ischemic evaluation. During the recovery phase of dobutamine stress ECHO, the patient reported having 10/10 chest pain with a drop in blood pressure to 90 mmHg systolic. He was subsequently given sublingual nitroglycerin and fluids. Pain did resolve and blood pressure improved after treatment. No wall motion abnormalities were noted on ECHO, but there were inferior ST depressions on EKG during the stress portion of the test. The patient had repeated blood work after the stress test which showed an elevated troponin level of 0.08 ng/mL. The patient was taken to the catheterization lab for diagnostic coronary angiogram. Cardiac catheterization showed a right coronary artery (RCA) arising from the pulmonary artery and diagnosis of isolated ARCAPA was made because of his intermittent chest pain. No intervention was performed as no significant lesions were found. The patient was started on medical therapy including aspirin, beta blocker and statin. The patient did not want to pursue surgery at that point and he did not want any further intervention. He was discharged home with instructions to follow up with cardiology in an outpatient setting to be referred for surgical repair.

Conclusions: The purpose of writing this case is to increase awareness among physicians to be able to recognize possible anomalous coronary artery origins during cardiac catheterization and to understand the risk of long-term complications of ARCAPA and need for surgical repair.

Background: Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with limited clinical data that can guide treatment choices. The diagnosis of EHE is based on its unique histological, immunohistochemical, and molecular characteristics. Differential diagnoses are broad and include autoimmune diseases. Treatments include hepatic resection, liver transplantation, systemic/regional chemotherapy, and radiotherapy.

Case description: We describe EHE in a patient with weight loss and general weakness. The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. In our case, hepatic EHE had metastasized to the lungs and brain. Histopathological examination of the liver tissue revealed an epithelial hemangioendothelioma. On CK7 staining, hepatocytes were clearly reactive and arranged in the plates (CK7: negative), with positive immunohistochemical staining for CD34 (CD34: positive) alone. Surveillance was conducted and the clinical course was better than expected, probably due to her relatively good general condition, the lack of genetic factors associated with her familial medical history, and normal levels of tumor markers such as α-fetoprotein and carcinoembryonic antigen (CEA). During a follow-up examination, she was asymptomatic with a healthy general appearance.

Conclusions: The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. The treatment method for EHE should be determined according to the patient's condition.

Background: Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the tumor protein p53 (TP53). It causes a predisposition for the development of multiple malignancies, primarily including breast cancers, sarcomas, and central nervous system tumors. There are a few cases reported in the literature of patients with LFS presenting with an epidermal growth factor receptor (EGFR) mutated lung cancer. Still, it has been suggested that there may be an association between the TP53 pathogenic variant and lung cancer with EGFR mutation in somatic cells.

Case description: A 47-year-old non-smoker woman with LFS with a history of multiple tumors, including bilateral breast cancer, pecoma, and sarcoma. In one of her computed tomography, a lesion in the lingula of the lung was detected. It was biopsied, which diagnosed lung adenocarcinoma, and genetic studies detected an EGFR exon 19 deletion. She was treated with a left inferior lobectomy, followed by pemetrexed and cisplatin.

Conclusions: The association between TP53 and lung cancer with EGFR mutation has been suggested in case reports. Studies in lung cancer cell lines have shown a link between TP53 mutation and EGFR overexpression. Nonetheless, as more cases are reported, further research is needed to comprehend the interrelation between these two pathologies and the risk posed by LFS to the emergence of EGFR-mutated lung cancer.

Background: Multiple primary malignant tumors (MPMTs) pose a significant clinical challenge, denoting the occurrence of two or more distinct malignant tumors with differing histological characteristics, all diagnosed within a 6-month timeframe. MPMT is a rare condition and due to the unique treatment requirements for each specific cancer type, it is crucial for healthcare professionals to accurately differentiate between metastatic growth and distinct primary tumors.

Case description: In this case report, we present a 41-year-old female patient who received diagnoses of three separate synchronous primary tumors. The patient presented for evaluation of a right breast mass that had been present for 1 year. Initial diagnostic tests, including mammography and ultrasound, did not provide any conclusive results. Subsequent magnetic resonance imaging (MRI) of the breast prompted an ultrasound-guided biopsy which confirmed moderately differentiated invasive ductal carcinoma (IDC). During pre-surgical testing, a suspicious opacity was detected on a chest X-ray, prompting further investigation with a computed tomography (CT) scan of the chest to distinguish between metastatic disease and a potential new primary tumor. Clinical and pathological examinations revealed the presence of bilateral masses originating from two different origins: invasive mucinous pulmonary adenocarcinoma in the left lower lobe and a neuroendocrine carcinoma in the right middle lobe of the lung.

Conclusions: Cases of this nature present a complex challenge to physicians and underscore the critical importance of maintaining a high level of clinical suspicion to ensure the delivery of high-quality care. Effective management of such patients requires a multidisciplinary collaboration among breast surgeons, thoracic surgeons, and medical and radiation oncologists.