Reports (MDPI)最新文献

Background and Clinical Significance: Immune checkpoint inhibitors (ICIs) have transformed the management of advanced solid tumors but can trigger severe immune-related adverse events (irAEs). Among the rarest and most life-threatening is hemophagocytic lymphohistiocytosis (HLH), a hyperinflammatory syndrome driven by uncontrolled immune activation. Case Presentation: We report the case of an 80-year-old man with clear cell renal carcinoma with sarcomatoid features who developed secondary hemophagocytic lymphohistiocytosis (HLH) after receiving four cycles of adjuvant pembrolizumab therapy. Following four cycles of immunotherapy, he presented with persistent fever, pancytopenia, hyperferritinemia (>49,000 ng/mL), hypofibrinogenemia, and elevated soluble IL-2 receptor (>7500 U/mL), fulfilling at least five HLH-2004 diagnostic criteria. Despite treatment with high-dose corticosteroids and intravenous anakinra (100 mg every 6 h), his condition rapidly deteriorated, leading to multiorgan failure and death. Discussion: ICI-induced HLH is an exceptional but increasingly recognized irAE, with fewer than 30 pembrolizumab-related cases reported to date. Diagnosis is challenging due to its nonspecific presentation, which can mimic infection, hepatic toxicity, or disease progression. The pathogenesis is believed to involve excessive activation of cytotoxic T cells and cytokine storm. While established pediatric protocols (HLH-94, HLH-2004) guide management, adult cases often require individualized approaches using corticosteroids and cytokine-targeted therapies such as IL-1 or IL-6 blockade. Conclusions: HLH secondary to ICIs should be considered in the differential diagnosis of patients receiving immunotherapy who develop unexplained fever and cytopenia. Early recognition and prompt initiation of immunosuppressive therapy are critical to improving outcomes in this potentially fatal complication.

Background and Clinical Significance: We present a rare case of an infected urachal remnant involving four microorganisms, including anaerobic bacteria. Case Presentation: A 23-year-old man presented with abdominal pain around the umbilicus, diarrhea and discharge. Laboratory findings and imaging led to a diagnosis of an infected urachal remnant. He was treated with broad-spectrum antibiotic therapy, and the abscess in the urachal remnant was drained. In cultures from the purulent urachal remnant, Bacteroides ovatus, Anaerococcus vaginalis, Bacteroides uniformis, and Peptostreptococcus stomatis were detected. After 2 months, the urachal remnant infection had not relapsed. Conclusions: This report presents the first documented case of an infected urachal remnant in which four anaerobic microorganisms were identified. In patients with fever, abdominal pain, and discharge from the umbilicus, physicians should consider the possibility of an infected urachal remnant in their differential diagnosis. Treatment should include appropriate antibiotic therapy to cover anaerobic organisms, and in cases where the clinical course does not improve, drainage of the urachal remnant may be necessary.

Background and Clinical Significance: Traumatic ulcerative granuloma with stromal eosinophilia (TUGSE) of the oral cavity is a chronic, rapidly developing mucosal lesion with an unclear pathogenesis, manifesting as a solitary ulcer. Given the malignant clinical appearance of the lesions, it is crucial to ensure the accuracy of the diagnosis to avoid unnecessary invasive surgical interventions. Case Presentation: We present a case involving a 69-year-old female affected by a wide, painful ulcer on the left margin of the tongue. An incisional biopsy was performed, and histopathological examination confirmed the diagnosis, revealing a neutrophilic inflammatory infiltrate with components of eosinophils and lymphocytes. Considering the condition's reactive and inflammatory nature, we planned a corticosteroid treatment with intralesional injections of triamcinolone acetonide. This therapy delivers the active principle directly to the tissues beneath the ulcerative lesion. In three treatment sessions, we achieved the complete regression of the lesion's signs and symptoms. During a one-year follow-up period, no recurrences were reported. Conclusions: The scarcity of documented cases and the ambiguity of definitions in the scientific literature highlight the importance of clinical reports, which refine scientific knowledge about this condition. At the same time, we record an effective and non-invasive treatment that could facilitate healthcare professionals in managing these types of oral pathologies.

Background and Clinical Significance: Intermediate-high-risk pulmonary embolism is characterized by right-ventricular dysfunction and positive cardiac biomarkers in the absence of hemodynamic instability. Current guidelines recommend anticoagulation with vigilant monitoring, and reserve systemic fibrinolysis for patients who deteriorate hemodynamically. However, some patients may experience physiologic decompensation manifested by refractory hypoxemia rather than hypotension, despite preserved systemic perfusion and normal lung parenchyma. In such cases, oxygenation failure reflects the severity of perfusion impairment and incipient right-ventricular-circulatory collapse. Whether this scenario justifies systemic fibrinolysis remains uncertain. Case Presentation: We present a 75-year-old man, five days after arthroscopic meniscus repair, presenting with acute dyspnea, tachycardia, and severe respiratory failure despite normal chest radiography. Laboratory findings revealed elevated troponin-I and brain natriuretic peptide, and echocardiography demonstrated marked right-ventricular dilation. Computed tomographic pulmonary angiography confirmed extensive bilateral central emboli with preserved lung parenchyma. Despite high-flow nasal oxygen at 100% fraction of inspired oxygen, respiratory failure worsened, necessitating intubation under lung-protective settings. With catheter-directed therapy unavailable and transfer unsafe, a multidisciplinary team administered staged systemic fibrinolysis with alteplase, pausing heparin during infusion. No bleeding or surgical complications occurred. Oxygenation and right-ventricular indices improved promptly. The patient was extubated on day 2, discharged from intensive care unit on day 7, and remained asymptomatic with normal echocardiography at 3 months. Conclusions: Refractory hypoxemia in intermediate-high-risk, normotensive pulmonary embolism, particularly when parenchymal disease and ventilator confounding are excluded, may represent an early form of circulatory decompensation warranting rescue reperfusion. In the absence of catheter-directed options and with acceptable bleeding risk, staged full-dose systemic fibrinolysis can be life-saving and physiologically justified. This case supports expanding the concept of "clinical deterioration" in intermediate-risk pulmonary embolism to include isolated, unexplained respiratory failure, highlighting the need for future trials to refine individualized reperfusion thresholds.

Background and Clinical Significance: Ingestion of foreign bodies may lead to perforation of the gastrointestinal tract in its various segments. This may be accompanied by infections of the mediastinum after esophageal perforations and peritonitis after perforations of the stomach and bowel. Case Presentation: A 64-year-old man was admitted to the hospital because of abdominal pain and fever. The laboratory testing showed increased indices of inflammation. A CT scan of the abdomen revealed perforation of the stomach pylorus wall from a foreign body. Additionally, there were imaging findings suggesting concealed peritonitis in the adjacent area of stomach perforation. A 3.9 cm foreign body was removed with gastroscopy. The investigation into the nature of the foreign body suggested that it was a fish otolith (a structure composed of calcium carbonate, also known as an ear bone). The patient adhered to a Mediterranean diet. He recalled ingesting parts of the head of a 2.5 kg sea bream about 40 days before his admission to the hospital. The patient received broad-spectrum antimicrobial treatment, specifically intravenous ampicillin/sulbactam (2 g/1 g) every 8 h. He had complete resolution of his infection, with full resolution of symptoms and normalization of all abnormal signs noted in the physical examination at outpatient follow-up. Conclusions: Ingestion of a fish otolith may lead to perforation of the gastrointestinal tract and subsequent intra-abdominal infection. Prompt diagnosis with abdominal imaging, especially a CT scan, removal of the foreign body by upper gastrointestinal endoscopy (if possible), and broad-spectrum antibiotics are necessary for the successful management of such cases.

Background and Clinical Significance: To report a case of bilateral sterile intraocular inflammation following intravitreal aflibercept 8 mg (Eylea HD) injections. Case Presentation: An 89-year-old woman with bilateral neovascular age-related macular degeneration (nAMD) developed blurred vision and mild ocular pain in both eyes four days after receiving aflibercept 8 mg injections in both of her eyes. Examination revealed a marked anterior chamber reaction with Descemet's folds, 2+ vitreous cells, and 3+ vitreous haze bilaterally. Intraocular pressures were normal, and B-scan ultrasonography confirmed attached retinas with bilateral vitreous opacities. The clinical presentation initially raised concern for infectious endophthalmitis; however, the bilateral presentation, quiet conjunctivae, and prior history of sterile inflammation after aflibercept 2 mg supported a diagnosis of sterile intraocular inflammation. The patient was hospitalized and treated with intensive topical corticosteroids, antibiotics, and cycloplegics, resulting in rapid improvement and complete resolution of symptoms within four days with recovery of baseline vision. Conclusions: Intravitreal aflibercept 8 mg can be associated with bilateral sterile intraocular inflammation, even in patients who previously tolerated standard-dose aflibercept. Awareness of this potential adverse event is essential to avoid unnecessary interventions and to guide appropriate management.

Background and Clinical Significanc: Congenital duodenal diaphragm (CDD) is a rare congenital condition causing partial or complete obstruction of the duodenum, most frequently located in the second part of the duodenum. It is a rare but important cause of intestinal obstruction in infants and young children. Clinically, it often presents with persistent vomiting and failure to thrive. Diagnosis can be made through abdominal X-ray showing the characteristic "double bubble" sign, upper gastrointestinal (GI) series, or gastroscopy. Case Presentation: A 17-month-old female infant with known psychomotor retardation was admitted for evaluation of inadequate weight gain and intermittent postprandial vomiting, both present since birth. Laboratory investigations, including metabolic and electrolyte panels, were within normal limits. Given the persistent clinical symptoms, an upper gastrointestinal series was performed to assess for possible anatomical abnormalities. Imaging revealed a significant delay in the passage of contrast into the second portion of the duodenum, with marked prestenotic dilatation. Subsequent gastroscopy identified a duodenal diaphragm nearly occluding the duodenal lumen at the same site, impeding the passage of the endoscope. Associated findings included gastritis and the presence of food debris in the stomach and proximal duodenum, indicating impaired gastric emptying. The patient underwent successful surgical management via duodenotomy with resection of the septum. Postoperative recovery was uneventful. Conclusions: In infants or young children with persistent postprandial vomiting and inadequate weight gain, anatomical causes such as duodenal diaphragm/web should be considered in the differential diagnosis. Once identified, treatment should be initiated promptly, either endoscopically or surgically, depending on the severity and anatomical characteristics of the obstruction.

Background and Clinical Significance: Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disorder caused by prion protein misfolding. The disease poses significant diagnostic challenges, particularly when its initial symptoms mimic other conditions, such as transient ischemic attacks. Early recognition and differentiation from other neurological conditions are critical, as misdiagnosis may lead to unnecessary interventions. This case highlights a unique presentation of CJD in a male Caucasian patient with a history of cardiac surgery and mitral valve prosthesis, emphasizing the role of multidisciplinary evaluation in complex neurological cases. Case Presentation: A male patient in his mid-sixties with a history of mitral valve mechanical prosthesis and prior infective endocarditis presented with progressive cognitive decline, memory impairment, and episodes of confusion. Initial cardiovascular investigations suggested mitral valve prosthesis thrombosis, while neurological assessment pointed toward transient brain ischemia. However, brain imaging remained inconclusive. Given the rapid deterioration of cognitive and motor functions, further diagnostic workup was performed. MRI findings revealed cortical diffusion restrictions consistent with probable CJD. Despite symptomatic management, the patient's condition worsened, leading to akinetic mutism and death within eight days of diagnosis. Conclusions: This case underscores the diagnostic complexity of CJD, particularly when initial symptoms overlap with transient ischemic events. It highlights the importance of comprehensive neuroimaging and an interdisciplinary approach in recognizing atypical neurodegenerative diseases to improve diagnostic accuracy and patient management.

Background and Clinical Significance: Calcinosis cutis is a rare condition that can develop through several mechanisms. These include dystrophic, calciphylaxis (classical, metastatic, and iatrogenic), and idiopathic mechanisms. Idiopathic calcinosis cutis is rare and always a diagnosis of exclusion. A particularly rare site for the development of idiopathic calcinosis cutis is the penis. Case Presentation: A previously healthy 18-year-old male presented to our institution with a three-month history of a painless, firm swelling on the outer layer of the prepucium in the area of the commissure. Histopathology of the excised specimen showed a varying caliber of calcium deposits within the dermis, ranging from small psammoma-like bodies to larger calcium deposits measuring up to 2.5 mm. The deposits were freely dispersed within the dermal collagen and did not exhibit vascular affinity, nor surrounding foci of inflammation. The epidermis was not involved, with only mild reactive hyperkeratosis. The results of detailed physical, imaging, and laboratory tests were normal, and hence the diagnosis of idiopathic calcinosis cutis of the penis was established. Conclusions: Penile calcinosis cutis is a rare condition that falls within the broader group of genital calcinosis cutis. The condition is typically present in young males and has an excellent prognosis after excision.

Background and Clinical Significance: Targeted biologic therapies, especially monoclonal antibodies (mAbs) such as nivolumab and alemtuzumab, have revolutionized treatment for malignancies and autoimmune conditions but can cause rare immune-related adverse events (IRAEs), including orbitopathy. To date, only a handful of cases have described the treatment of thyroid eye disease secondary to mAbs, and even fewer have described how to treat refractory disease. Case Presentation: We are illustrating two cases in this report: a 73-year-old woman who developed thyroid eye disease (TED) after nivolumab therapy for melanoma, and a 36-year-old man who presented with TED following alemtuzumab treatment for multiple sclerosis. Both patients failed corticosteroid therapy but showed a significant improvement with teprotumumab, an anti-insulin-like growth factor (IGF)-1 receptor mAb. Conclusions: These cases highlight underrecognized orbital IRAEs linked to mAb therapy and demonstrate teprotumumab's potential as an effective option for steroid-refractory thyroid orbitopathy. Clinicians should maintain an awareness of orbital complications in patients receiving mAbs to enable prompt diagnosis and intervention, minimizing visual morbidity. Further studies are needed to clarify the pathogenesis of mAb-associated orbitopathy and to establish evidence-based treatment protocols for these rare but impactful complications.