AME Case Reports最新文献

Background: Patients with multiple comorbidities can present as a diagnostic challenge as overlapping symptomatology complicates the discovery of emergent pathology. Symptoms of alcohol misuse or orthostatic hypotension may especially cloud the diagnosis of insidious neurological disease, such as posterior circulation infarct. With a growing elderly population, it is expected that the complex multimorbid patient will represent a growing challenge to prompt stroke detection and treatment.

Case description: Herein, we present a 69-year-old male with a history of alcohol abuse, chronic obstructive pulmonary disease, type 2 diabetes mellitus, paroxysmal atrial fibrillation, and congestive heart disease. The patient arrived at our emergency department with dizziness, ataxia, and diplopia. His symptoms had a sudden onset and gradual exacerbation over a span of 2 days, notably aggravated by standing and walking, but relieved when seated or supine. Notably, a month before admission, the patient had been treated with anti-congestive medications for severe congestive heart failure leading to a weight loss of 55 lbs over period of 2 weeks. The initial differential diagnoses were orthostatism, Wernicke's encephalopathy (WE), and ischemic stroke. Magnetic resonance imaging (MRI) revealed a subacute infarct in the medial longitudinal fasciculus (MLF).

Conclusions: The case underscores the challenge in diagnosing neurological conditions in multimorbid individuals. The combination of various underlying conditions may drastically complicate the diagnosis. Successful diagnosis and treatment necessitates meticulous evaluation of clinical observations, medical history, current medications, and pertinent diagnostic evaluations to effectively narrow down the potential differential diagnoses.

Background: Primary malignancies of the cervical lymph nodes with special pathological characteristics are relatively uncommon in clinical settings, and there have been few reports on these tumors. The precise basis for their pathogenesis is poorly understood, and their diagnosis can be challenging. In addition, no clinically validated treatments have been established to date for affected patients.

Case description: Here, we describe a case of a 65-year-old male patient who exhibited the enlargement of several lateral and supraclavicular lymph nodes on the right side of his neck that presented as a large mass associated with a high fever and benign leukocytosis. He did not exhibit any relevant prior history. Radiological assessment revealed that this lesion was the primary tumor and that it has since spread to the liver. Histological assessment was unable to definitively classify the pathological characteristics of this tumor. Without any relevant morphological findings, immunohistochemical outcomes were not sufficiently specific to clarify the origin of these cells. When distinguishing it from similar sarcomas of the lymphohematopoietic system, it was found to not be typical of a histiocytic or dendritic cell tumor. Treatment to this patient was performed following multidisciplinary consultation and consisted of one course of a cyclophosphamide plus doxorubicin, vincristine, and dexamethasone regimen and two courses of the cyclophosphamide plus pirarubicin, vincristine, and dexamethasone regimen. However, the tumor exhibited minimal response to such treatment. While radiotherapy was proposed, the patient lacked confidence in the approach and declined treatment. He eventually developed severe tumor-associated complications. In the discussion section of this report, we detail and analyze the pathogenesis, diagnosis, and referential treatments of this rare malignancy.

Conclusions: This is the first report describing such a malignancy, and we hope that the publication of these findings can lead to the recognition of this tumor while supporting efforts to acquire greater experience in the diagnosis and treatment of affected patients.

Background: Following the era of remote access thyroid surgery in the 1990s, several techniques were developed including transoral endoscopic thyroidectomy vestibular approach (TOETVA), which was invented in 2016. TOETVA has gained acceptance and proven comparable results to the conventional open thyroidectomy. Despite the potential complications that may occur as a result of remote access thyroid surgery, such as nerve, vascular, and tracheal injury, seroma, and hypoparathyroidism, there was an extremely rare late complication of a benign subcutaneous thyroid implantation, which have not been reported following TOETVA.

Case description: A 28-year-old female was developed multiple subcutaneous nodules after undergoing right lobe TOETVA for 2 years due to a 3.1 cm benign nodular goiter. The nodules were excised via submandibular incision and the pathological results were shown as benign.

Conclusions: Thyroid tissue implantation may result from intracorporeal thyroid tissue rupture, as reported in this research. Extending the vestibular incision to 2-2.5 cm and partially cutting the specimen within the retrieval bag were options to prevent further tissue damage or spillage during specimen extraction. Meanwhile, a separate incision, such as the axillary or submandibular incision, may be required to retrieve the larger nodules. Even though there were no absolute guidelines or contraindications for patient selection in TOETVA, an awareness of tissue breakage should always be considered. The optimal size of the nodule for vestibular removal, which would minimize the risk of tissue breakage, still required additional research.

Background: Type II endoleaks are common and embolization is often performed if treatment is necessary. Although transarterial embolization is common, other methods including trans-caval embolization are also utilized. Complications can occur and we report a case of infection that was challenging to diagnose and treat. There is no data regarding the risk of aortic stent graft infection after trans-caval embolization with n-butyl 2-cyanoacrylate (n-BCA) glue of a type II endoleak.

Case description: We report a rare case of infected, Gore Excluder infrarenal stent graft after transcaval embolization with coil and n-BCA glue to treat a type II endoleak in a 71-year-old male. The endoleak caused a rapid sac enlargement. The stent graft was placed 5 years earlier electively. Soon after the endoleak embolization, the patient experienced abdominal pain and malaise. There was an intense inflammatory reaction involving the aneurysm wall and the adjacent bowel mesentery. Our differential included normal inflammation after embolization vs. infection and this was difficult to distinguish. The infection was confirmed by positron emission tomography scan and tissue biopsy. The patient was deemed high-risk for surgery because of his extensive cardiac history, status post coronary bypass and tissue mitral valve replacement, congestive heart failure with residual left ventricular ejection fraction of 36%. He was optimized by correcting fluid status, administration of intravenous antibiotic, and nutrition consultation with dietary supplementation before surgery over the course of 2 weeks. The graft was explanted through a transabdominal approach, and the aorta was reconstructed with cryopreserved allograft. Interestingly, the small and large intestine with their mesentery were found to be plastered to the aneurysm sac. The post-operative course was unremarkable except for a transient acute kidney injury that resolved within 1 week. Follow-up computed tomography scan at 6 months showed widely patent bypass.

Conclusions: Glue embolization induces inflammation promoting thrombus formation inside the aneurysm sac. With a transcaval approach to the sac, there is the risk of extravasation of glue outside the sac as well as contamination of the graft with instrumentation. Differentiating between inflammation and infection can be difficult, and tissue biopsy provided the most conclusive diagnosis. Risk minimization considerations include, pre-operative optimization, a transabdominal approach, ureteral stenting, and tissue buttressing of anastomosis.

Background: Metaplastic thymoma (MT), an exceedingly rare variant of primary thymic epithelial neoplasms, is distinguished by its indolent progression and unique histopathological profile. It presents a biphasic pattern characterized by solid epithelial and spindle cell components, potentially leading to diagnostic confusion with type A thymomas or the type A component of type AB thymomas. Accurate diagnosis is pivotal for optimal therapeutic strategies and prognostication.

Case description: We document an exceptional case of a 32-year-old woman, incidentally discovered to have a mediastinal nodule in the middle compartment on chest computed tomography (CT). The lesion was excised via video-assisted thoracoscopic surgery. Histological evaluation revealed a biphasic cellular architecture comprising epithelioid and spindle cells. Immunohistochemical analysis demonstrated significant positivity for CK5/6 and P40 in epithelial cells, and vimentin and epithelial membrane antigen in spindle cells, with a low proliferation index marked by Ki-67. Noteworthy, fluorescence in situ hybridization (FISH) analysis identified a YAP1::MAML2 gene fusion, with a predominant pattern suggestive of fusion gene presence, thus corroborating the diagnosis of MT.

Conclusions: This report underscores the critical role of a multifaceted diagnostic approach, including histopathological, immunohistochemical, and genetic analyses, in the identification of MT. The detection of the YAP1::MAML2 gene fusion through FISH analysis provides a robust diagnostic marker, highlighting the necessity for clinical and pathological vigilance for this rare tumor.

Background: Well-differentiated liposarcoma arising from the paratesticular region is rare, with only a few hundred cases reported in the literature. Due to their unexpected location, these tumors are often confused for common pathologies found in the groin, including inguinal hernia, seroma, or lymphoma. Standardized diagnostic and treatment pathways have not been established for patients with paratesticular liposarcoma, thereby elevating the importance of sharing our experience.

Case description: This case describes the presentation of a 65-year-old man with a well-differentiated liposarcoma of the spermatic cord. Diagnosis was made after he underwent open herniorrhaphy to repair what was presumed to be a recurrent left inguinal hernia. Although a recommendation for formal oncologic resection and orchiectomy was made, the patient elected to proceed with watchful waiting and remains well up to last known contact.

Conclusions: Paratesticular liposarcoma remains a rare clinical entity. While a few hundred cases have been reported in the literature, only a handful describe its presentation masked as an early recurrence of a groin hernia. Wide local resection along with orchiectomy and potential radiation therapy have been the mainstay of treatment. Clinicians should maintain a healthy level of suspicion for this uncommon pathology, especially in cases where patients present with early recurrence of an inguinal hernia.

Background: Adult intussusception is a rare condition that is often associated with a high incidence of malignancy. The optimal management strategy remains controversial, particularly regarding the necessity for bowel reduction before resection. To date, there is a paucity of data on adult intussusception in the English literature. We present two cases of sigmoid colon cancer with intussusception prolapsing through the anus and highlight the different surgical approaches.

Case description: Case 1: an 84-year-old woman presented with sigmoid colon prolapse and biopsy-confirmed adenocarcinoma. Urgent surgery revealed intussusception. Despite unsuccessful manual reduction, the Hutchinson technique successfully resolved the intussusception. Resection with a temporary colostomy was performed. Histopathological examination revealed mucinous adenocarcinoma without metastasis; the patient recovered well. Case 2: a 76-year-old woman with sigmoid colon prolapse presented with abdominal pain and blood-streaked stools. Emergency surgery was performed because of failed reduction attempts and persistent symptoms. Intussusception resolution was achieved through transanal insertion of a circular sizer. Resection with temporary colostomy was performed, after which tubular adenocarcinoma was identified. The patient remains symptom-free 3 years post-surgery.

Conclusions: Choice of the surgical approach depends on the ease of intussusception reduction. In cases wherein reduction is straightforward, routine preoperative examinations are preferred given the low risk of injury or cancer cell dissemination. Conversely, in situations such as ours, gentle reduction under general anesthesia might be crucial. In addition, laparoscopic surgery could be beneficial. Importantly, accumulation of reports on adult intussusception could contribute to the standardization of this approach.

Background: Catheter malfunction is a common problem following the placement of a peritoneal dialysis (PD) catheter, and it is characterized by inadequate dialysate drainage, which can also limit infusion. Common causes include constipation, catheter migration, catheter kinking, omental wrapping, and fibrin obstruction. However, catheter obstruction by other intra-abdominal organs has been observed infrequently.

Case description: We present two cases of female PD patients experiencing catheter dysfunction after catheter implantation. The first case involves a 28-year-old female who suffered from problematic drainage and infusion of dialysate 1 month after catheter insertion, evidenced by catheter displacement from the pelvis on abdominal X-ray. The second case concerns a 49-year-old female PD patient who also encountered a bidirectional catheter malfunction 40 days post-implantation. Conservative methods failed to restore the catheter function in both patients. Laparoscopic examination revealed fallopian tube, not the omentum, was tightly wrapped around the PD catheter in both cases. Finally, laparoscopic surgery with catheter fixation restored the catheter function, enabling continued continuous ambulatory peritoneal dialysis (CAPD) with favorable outcomes.

Conclusions: Our findings indicate that healthcare providers should consider fallopian tube wrapping as a potential cause of catheter dysfunction. Prompt consideration and utilization of laparoscopy with catheter fixation can play an important role in restoring catheter function and improving patient outcomes.

Background: Porphyria cutanea tarda (PCT) is usually caused by acquired defects in uroporphyrinogen decarboxylase (UROD) activity in the liver. This more common form of PCT is called type 1 PCT. Major known risk factors for PCT include iron overload, such as occurs due to mutations in HFE, associated with classical hereditary hemochromatosis, chronic hepatitis C infection, heavy alcohol use, tobacco use, and estrogen therapy. In addition, in about 25% of patients with PCT, namely, those with PCT type 2, an inherited partial defect in UROD activity is found. In such persons, this partial defect, which is found in all cells, including hepatocytes, red blood cells, and others, contributes to the development of biochemically and clinically active disease.

Case description: Herein we describe salient features of a man in his eighth decade of life with onset of clinical PCT. Among risk factors were heavy alcohol and tobacco use. Genetic testing revealed a novel mutation in one of his alleles of the UROD gene, namely, c.224 G>C; p. Arg 75 Pro, and enzymatic testing revealed that red blood cell UROD activity was decreased by 50%. This mutation in the UROD gene is predicted to have a major effect on protein structure and function, confirmed by the 50% decrease in activity of the enzyme.

Conclusions: The previously undescribed mutation in UROD, found in this man, namely, c.224 G>C; p. Arg 75 Pro is pathogenic.

Background: Solitary rectal ulcer syndrome (SRUS) is a rare chronic rectal lesion with potential for malignant transformation, although cases of rapid progression to mucinous adenocarcinoma are infrequent. This case report highlights such an instance in a 29-year-old male patient, emphasizing the importance of vigilance among clinicians for detecting canceration in SRUS patients.

Case description: The patient presented with recurrent constipation and anal discomfort, initially diagnosed with SRUS based on colonoscopy and pathological examination. Despite long-term mesalazine treatment, symptoms persisted, and subsequent evaluation revealed the development of mucinous adenocarcinoma within a short period. Surgical resection, combined with adjuvant FOLFOX chemotherapy, effectively controlled cancer progression. Immunohistochemical analysis showed positive expression of MLH1(+), MSH2(+), MSH6(+), PMS2(+), and HER2(+), providing molecular insights into SRUS-associated mucinous adenocarcinoma.

Conclusions: This case underscores the need for increased awareness among clinicians regarding the potential for cancerous transformation in SRUS patients. Early detection and intervention are crucial for improving outcomes in SRUS-associated malignancies. Furthermore, this case adds to existing literature by presenting a rare instance of SRUS progressing rapidly to mucinous adenocarcinoma, highlighting the significance of regular monitoring and timely intervention in such cases. Further research is warranted to elucidate underlying mechanisms and risk factors, guiding future clinical practice and treatment strategies.