Case Reports in Medicine最新文献

The recent inclusion of immune-privileged site lymphoma in the World Health Organization classification signifies a distinctive entity encompassing the central nervous system and testicles. This classification is rooted in the unique challenges posed by the blood-brain barrier and blood-testis barrier, along with the distinct cancer microenvironment compared to standard lymphomas. These intricacies contribute to the complexity of treatment strategies, and as of now, a standardized protocol remains elusive. Our presented case underscores the critical need for a comprehensive treatment plan in immune-privileged site lymphomas, where surgery alone, in the form of indolent intervention, may fall short in addressing the underlying aggressive nature of the disease. Failure to administer systemic treatment, where indicated, heightens the risk of aggressive recurrence and substantially elevates mortality rates. Through a detailed examination of our case, we aim to contribute to the evolving body of knowledge surrounding these unique lymphomas, offering valuable insights that may guide future treatment strategies and improve patient outcomes.

Vanishing bile duct syndrome (VBDS) is an extremely rare disorder characterized by the progressive destruction of intrahepatic bile ducts, leading to cholestasis and liver dysfunction. It is most commonly associated with autoimmune and infectious conditions but can also occur in immunocompromised states such as human immunodeficiency virus (HIV). We report the case of a 58-year-old Hispanic woman with HIV who presented with cyclical fevers, transaminitis, hyperbilirubinemia, and hyponatremia over a 3-month period. Laboratory workup revealed marked cholestasis with severe elevations in alkaline phosphatase. A liver biopsy confirmed VBDS with a significant reduction in intrahepatic bile ducts. The patient continued antiretroviral treatment, prophylactic antibiotics, and was started on ursodiol, resulting in improvement in liver tests. An extensive workup was done to investigate for an underlying opportunistic infection or lymphoproliferative disease as a culprit for VBDS. VBDS, while exceedingly rare in HIV-positive patients, is likely immune mediated, involving T-cell dysfunction and cytokine-mediated biliary epithelial cell apoptosis. While drug-induced hepatotoxicity from antiretroviral therapy is a possible contributing factor, it is crucial to consider other underlying etiologies in immunocompromised patients such as infections and lymphoproliferative disorders. VBDS should be considered in HIV-positive patients with unexplained liver dysfunction, particularly those with low CD4 counts. Early recognition and diagnosis are crucial for initiating appropriate treatment and preventing further liver damage. This case highlights the diagnostic complexity and need for ongoing research into the interplay between immunosuppression, cholangiopathy, and liver dysfunction in HIV patients.

Purpose: Pediatric Rosai-Dorfman disease (RDD) is extremely rare, and the current treatment plan is not unified. We hope that our study provides new ideas for the clinical treatment of RDD.

Methods: We report a case in which RDD was successfully treated with prednisone and vincristine, resulting in regression of enlarged lymph nodes. In this study, informed consent forms were obtained from participants for their involvement in the research and publication of relevant case details. Moreover, this study aimed to conceal personal patient information.

Results: The child underwent two pathological examinations before a definitive diagnosis was made. Percutaneous fine-needle aspiration biopsy was performed on his first admission, and pathological examination showed a purulent granulomatous reaction under a microscope; however, antibiotic treatment was ineffective. The second pathological biopsy performed at the time of surgery showed RDD. After treatment with vincristine and prednisone, the neck mass significantly shrank and did not increase in size after the treatment was stopped. The patient remains under follow-up.

Conclusions: Sufficient pathological tissue samples were obtained via surgical biopsy to diagnose RDD. Treatment with chemotherapy, including prednisone and vincristine, can induce remission of RDD.

Introduction: Subacute encephalopathy with seizures in alcoholics (SESA) is a rare complication of chronic alcohol abuse manifested as seizures, altered mental state, and focal neurological deficits. Electroencephalography usually shows focal epileptic anomalies, and brain MRI reveals reversible focal cortical or subcortical T2w/FLAIR hyperintense lesions. This syndrome is still underrecognized but a very important entity with a high risk of recurrent seizures requiring long-term antiseizure polytherapy treatment and has an uncertain outcome.

Case series: We report four male patients who presented with focal motor seizures or status epilepticus associated with chronic alcohol intake. They were treated with antiseizure polytherapy combined with other intensive symptomatic therapies. Two patients had a good outcome without new seizure occurrences, while the other two patients, despite intensive care treatment, developed multiorgan dysfunction and had a fatal outcome.

Conclusion: SESA is a life-threatening disease with an uncertain outcome, especially if hospitalization in intensive care units is needed.

Mycobacterial spindle cell pseudotumor (MSP) is an uncommon granulomatous inflammation often found in immunocompromised patients, especially those with HIV. This case report discusses an 18-year-old female with congenital HIV, who presented with severe epigastric pain, nausea, and noteworthy lymphadenopathy. Imaging studies identified lobulated masses, and a core needle biopsy confirmed the diagnosis of MSP, revealing spindle-shaped histiocytes and acid-fast bacilli. Additionally, we reviewed nine MSP cases documented since 2017.

A previously healthy 28-year-old woman who developed pharyngeal, pulmonary, and ocular manifestations due to Lemierre's syndrome is reported. High-grade fever, severe sore throat, neck pain, and diarrhea were the initial symptoms. Worsening of these symptoms following oral azithromycin therapy prompted the patient to present to our hospital's emergency department. Physical examination, chest X-ray, blood tests, and contrast-enhanced CT scans of the neck and chest revealed enlargement of the left palatine tonsil, thrombosis of the left internal jugular vein, multiple enlarged left cervical lymph nodes, and bilateral pulmonary consolidations, confirming the diagnosis. Admission to the intensive care unit (ICU) was required due to multiorgan failure. A combination of antibiotic therapy, anticoagulation, and surgical drainage of a left palatine tonsillar abscess was essential for a favorable outcome. After a left-sided pleural empyema was identified, a chest drainage tube was inserted for treatment. Conservative management was chosen for the ocular involvement. This case highlights the importance of maintaining a high index of clinical suspicion in primary care and emergency settings, as well as the early initiation of an appropriate antibiotic regimen, which can improve the prognosis and reduce morbidity and mortality. Its relevance is increasing, as recent guidelines for oropharyngeal infections may not adequately address this condition because of its low incidence.

Urinary tract complications can occasionally occur due to iatrogenic causes, particularly following surgical interventions for gynecological diseases. However, non-iatrogenic ureteral injuries can also occur, for example, by the cancer invasion. This study reports the case of an 83-year-old woman who was referred to our hospital for right ureteral tumor. The patient's chief complaint was macroscopic hematuria, and earlier, she had been referred to an urologist by a general physician. Right hydronephrosis and a lower ureteral tumor were observed on computed tomography and cystoscopy. Transurethral resection of the right ureteral orifice tumor had been carried out previously by an urologist. The condition was classified as urothelial cancer, Grade 2, pT1. A retroperitoneoscopic right nephroureterectomy was performed at our hospital. Extensive adhesion of the lower ureter to the surrounding tissue was detected. Consequently, the ureter, bladder cuff, and small intestine were resected en bloc. The pathological diagnosis was endometrial cancer recurrence. This is the first reported case of ureteral recurrence of the endometrial cancer. The recurrence or metastasis of endometrial cancer to the urinary tract is rare. Ureteral injuries are generally subtle; therefore, clinicians must maintain a high level of suspicion. Unrecognized or mishandled ureteral injuries might result in substantial complications. Herein, we present this rare case with some previously reported similar cases in the literature.

Interleukin-10 (IL-10) signaling is critical for intestinal immune homeostasis, and defects in this pathway underlie infantile-onset inflammatory bowel disease (IOIBD). While numerous IL-10-related mutations have been reported, their pathogenic mechanisms and genotype-phenotype correlations remain incompletely understood. Here, we describe four patients from two Chinese families with IOIBD harboring novel IL-10RA mutations. We detailed the clinical presentations and performed bioinformatics analyses to assess mutation conservation, pathogenicity, and structural impact via 3D modeling. Our findings broaden the IL-10RA mutation spectrum and provide preliminary genetic insights that may support clinical diagnosis and prenatal screening for IOIBD in Chinese populations, while also highlighting the need for further functional validation.

Introduction: Large cystic lesions of the jaws in children present unique challenges due to potential damage to developing teeth and facial structures. Traditional aggressive treatments may compromise these structures. Decompression offers a minimally invasive alternative.

Case presentation: This report describes two pediatric female patients (ages 6 and 9) in the mixed dentition phase presenting with large, asymptomatic mandibular swellings. Diagnostic assessments including clinical examination, panoramic radiography, and histopathology revealed a large cystic lesion initially suspected as odontogenic in origin and later confirmed histopathologically as an ameloblastoma involving the impacted canine and premolar in Case 2. Both lesions caused significant bone destruction and tooth displacement.

Interventions and outcomes: Both patients underwent surgical decompression under general anesthesia. Case 1 involved decompression via extraction site, while Case 2 involved decompression followed by secondary surgery for definitive treatment after initial biopsy results. Follow-up over 15-42 months showed significant radiographic bone fill, shrinkage of the cystic cavities, and successful eruption in Case 1 and preservation of the involved teeth in Case 2 of the involved permanent teeth. No nerve damage or recurrence was noted during the follow-up period.

Conclusion: Within the limitations of this report, decompression appeared to be an effective and conservative management strategy for these large mandibular cystic lesions in the mixed dentition phase, allowing for bone regeneration and preservation of developing permanent teeth.