Reports (MDPI)最新文献

{"title":"The Transcaval AngioVac Aspiration of a Left Subclavian Artery Intimal Sarcoma Masquerading as Arterial Thrombosis: A Case Report.","authors":"Andrija Matetic, Frane Runjić, Nikola Crnčević, Goran Potočki, Antonija Sviličić, Ivona Mustapić, Darija Baković Kramarić","doi":"10.3390/reports9030315","DOIUrl":"10.3390/reports9030315","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Intimal sarcoma is a rare, aggressive malignancy of the large arteries that grows within the vessel lumen and frequently mimics thromboembolic disease, leading to diagnostic delay. Flow restoration and tissue biopsy are both difficult if the tumour occupies a technically demanding arterial segment, which is further aggravated if conventional large-bore arterial access is precluded by peripheral arterial disease. <b>Case Presentation:</b> A 66-year-old woman with multiple cardiovascular risk factors presented with subacute left upper-limb ischaemia and painless digital cyanosis (embolic phenomena) that had progressed despite therapeutic anticoagulation. Computed tomography angiography demonstrated a sub-occlusive filling defect extending from the origin of the left subclavian artery towards the aortic arch, initially interpreted as thrombus. There were no clear signs of malignant disease, despite differential screenings. Multiple on- and off-site surgical consultations were done, but the patient was repeatedly rejected for operation due to disease characteristics and high surgical risk. Severe iliofemoral peripheral arterial disease precluded usual transfemoral arterial delivery of a large-bore system, so the subclavian mass was aspirated using a 22/26-French sheath and extracorporeal aspiration system (AngioVac System (AngioDynamics)) delivered through percutaneous transcaval (caval-aortic) access, under cerebral embolic protection. Repeated aspiration runs with mechanical snare augmentation achieved substantial debulking, angiographic normalisation of flow and abolition of the invasive pressure gradient, without injury to the target artery. The caval-aortic tract was eventually closed with an occluder device. Histopathology of the aspirate revealed a malignant spindle-cell mesenchymal neoplasm consistent with intimal sarcoma. Staging subsequently demonstrated metastatic disease, and the patient proceeded to covered-stent maintenance of subclavian patency and first-line systemic chemotherapy. The patient is undergoing chemotherapy at 7-month follow-up, but palliation is being considered due to disease progression. <b>Conclusions:</b> Transcaval delivery of a large-bore aspiration system (AngioVac) is a feasible strategy to achieve both flow restoration and diagnostic tissue sampling when conventional arterial access is unavailable. Intimal sarcoma should be considered when arterial \"thrombus\" fails to respond to anticoagulation, particularly alongside constitutional symptoms.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Transient Left Atrial Appendage Filling Defect During Anticoagulation Interruption After Ischemic Stroke with Progressive Hemorrhagic Transformation: A Case Report.","authors":"Woochan Choi, Yang-Ha Hwang","doi":"10.3390/reports9030314","DOIUrl":"10.3390/reports9030314","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Anticoagulation timing after atrial fibrillation (AF)-related ischemic stroke is uncertain when hemorrhagic transformation (HT) is progressive. Although early direct oral anticoagulant (DOAC) initiation is supported in selected patients, evidence is limited for parenchymal hemorrhage or progressive HT. <b>Case Presentation:</b> A 72-year-old man receiving aspirin therapy, in whom AF was newly diagnosed on admission, presented with multi-territorial ischemic stroke and HT. He was febrile, with a C-reactive protein level of 15.54 mg/dL, and underwent serial abdominal computed tomography (CT) to investigate the source of fever. Given concern regarding intracranial bleeding associated with HT, apixaban 2.5 mg twice daily was initiated on day 4 but discontinued on day 6 because of progressive HT. No antithrombotic therapy was subsequently administered. CT on day 2 showed no left atrial appendage (LAA) filling defect. On day 10, after reduction in inflammatory activity, repeat CT demonstrated a new 15-mm LAA filling defect radiologically suggestive of thrombus. The defect was no longer visible on day 16. Transesophageal echocardiography on day 19 showed no intracardiac thrombus. Apixaban was resumed on day 35 after radiographic HT resolution. He received antithrombotic therapy for only 2 of the first 35 days after stroke onset. <b>Conclusions:</b> A transient LAA filling defect was observed during a prolonged antithrombotic-free interval and was not visualized on follow-up CT. Although contemporaneous dedicated cardiac imaging was unavailable and slow flow or contrast-mixing artifact could not be excluded, this serial observation raises the possibility of a transient thrombotic phenomenon during anticoagulation interruption.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Eosinophil-Predominant Collagenous Gastritis: From Conventional Therapy to Dupilumab: A Case Report.","authors":"Maria Rogalidou, Amalia Patereli, Kalliopi Stefanaki, Konstantina Dimakou, Eleanna Stasinou, Vasiliki-Maria Karagianni, Daphne Margoni, Alexandra Papadopoulou","doi":"10.3390/reports9030313","DOIUrl":"10.3390/reports9030313","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Collagenous gastritis (CG) is a rare disorder characterized by subepithelial collagen deposition, typically presenting in children with iron deficiency anemia (IDA) and abdominal pain. Its pathogenesis remains unclear, and no standardized treatment exists. <b>Case Presentation:</b> A female patient developed IDA at 4.5 years of age, requiring repeated intravenous iron infusions, and recurrent epigastric pain. CG was diagnosed at 13.5 years, with marked gastric eosinophilia (peak 685 eosinophils/mm²) and subepithelial collagen thickening (103.6 μm). Extensive evaluation excluded alternative causes. Proton pump inhibitor (PPI) therapy failed to meaningfully improve symptoms, endoscopic findings, or histology. A 10-week course of oral systemic corticosteroids resolved abdominal pain and normalized hemoglobin and ferritin levels, but endoscopic abnormalities persisted, histologic improvement was limited, and pain recurred after withdrawal. Dupilumab was initiated as a steroid-sparing, histology-targeted therapy. Over 15 months, the patient remained asymptomatic, hemoglobin and ferritin levels remained normal without intravenous iron or routine oral iron supplementation, and endoscopic abnormalities improved although residual histologic abnormalities persisted. Dupilumab achieved a decrease in gastric eosinophil counts and subepithelial collagen thickness by 41% and 33%, respectively; steroids achieved decreases of 17% and 13%, respectively, and PPIs achieved decreases of 23% and 0.6%, respectively. <b>Conclusions:</b> Dupilumab was associated with sustained clinical and hematologic remission together with gradual endoscopic and histologic improvement in pediatric CG with prominent eosinophilic inflammation. To our knowledge, this is the first reported pediatric case of CG treated with dupilumab. These findings suggest that dupilumab may represent a promising steroid-sparing therapeutic option and support further evaluation in larger case series and controlled studies.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Giant Recurrent Retroperitoneal and Ischioanal Lymphangioma in an Adult: A Case Report.","authors":"Edy Quizhpe, Alex Paúl Guachilema Rivadeneira, Jaime Eduardo Ortíz Flores, Melany Micaela Montalvo Cevallos","doi":"10.3390/reports9030312","DOIUrl":"10.3390/reports9030312","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Lymphatic malformations (cystic lymphangiomas) are rare benign tumors in adults, with retroperitoneal and ischioanal involvement being exceptionally uncommon. These lesions often present significant surgical challenges because of their infiltrative growth pattern and high risk of recurrence following incomplete excision. We present a rare case of a giant recurrent retroperitoneal lymphangioma with extension into the pelvic and perineal regions after two previous unsuccessful surgical interventions; <b>Case Presentation:</b> A 46-year-old Hispanic female presented with progressive pelvic and perineal swelling associated with discomfort and functional limitation. The patient had a history of two prior surgeries for lymphangioma recurrence. Imaging studies revealed a large multicystic retroperitoneal mass extending through the pelvis into the ischioanal fossa and perineal region. Given the lesion's size and complex anatomical involvement, a multidisciplinary surgical approach was planned. The patient underwent a combined abdominal-perineal en bloc resection, achieving complete removal of a 20 × 8 × 9.5 cm mass while preserving anal sphincter integrity and function. Histopathological examination confirmed the diagnosis of cystic lymphangioma. The postoperative course was uneventful, and no recurrence was observed for 6 months follow-up; <b>Conclusions:</b> Giant recurrent pelvic lymphangiomas require complete en bloc excision and a multidisciplinary approach to ensure disease clearance and prevent recurrence.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presentation and Management of High-Grade Pancreatic Injuries: Case Series.","authors":"Khalid Ahmed, Ahmad Kloub, Ayman El-Menyar, Mohammad Asim, Hassan Al-Thani, Ruben Peralta, Sandro Rizoli","doi":"10.3390/reports9030311","DOIUrl":"10.3390/reports9030311","url":null,"abstract":"<p><p><b>Background</b>: Trauma surgeons face a challenge in the management of high-grade pancreatic injuries (HGPIs), as optimal strategies remain controversial. HGPIs are uncommon and difficult to manage due to dynamic trauma physiology and complications from the injury and management. We aimed to evaluate HGPI presentations, management, and outcomes. <b>Methods</b>: This retrospective study included 13 patients with HGPIs (American Association for the Surgery of Trauma [AAST] grade III-V) who underwent interventions between 2017 and 2024. <b>Results</b>: There were 13 cases with HGPIs (five Grade III, four Grade IV, and four Grade V). Liver injury was the most common associated organ injury (61.5%), followed by splenic injury (46.2%). Distal pancreatectomy was the most frequently performed operation, with either concomitant splenectomy (53.8%) or spleen preservation (23.1%). Severe postoperative infection was observed in this cohort, with sepsis occurring in 69.2% of patients and peripancreatic collections noted in 76.9% and intra-abdominal infection in 61.5%. Other postoperative complications included ileus (61.5%), pancreatic fistula (30.8%), and diabetes (15.4%). <b>Conclusions</b>: This case series demonstrates that high-grade pancreatic injuries are associated with substantial morbidity, along with prolonged hospitalization. A higher Abbreviated Injury Scale (AIS) among HGPIs is associated with greater overall injury severity and higher rates of major complications. Clinicians should consider prioritizing early drainage procedures, particularly in Grade IV and V injuries. Multicenter and larger-sample-size studies are required.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metastatic Melanoma with an Unknown Primary Origin Presenting with Postmenopausal Bleeding: A Case Report.","authors":"Nulvin Djebbara-Bozo, Nikolaj Warming, Abdullah N Maarouf, Bence Gabor Szilvasy","doi":"10.3390/reports9030309","DOIUrl":"10.3390/reports9030309","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Melanoma is predominantly a cutaneous malignancy, whereas metastatic involvement of the endometrium is exceptionally rare. Melanoma of unknown primary (MUP) accounts for a small portion of such cases. Patients typically present with abnormal uterine bleeding, and diagnosis can be challenging because metastatic melanoma can mimic other uterine malignancies. We report a rare case of MUP presenting with synchronous endometrial and subcutaneous metastases, a combination not previously reported in the literature. <b>Case Presentation</b>: A multiparous woman in her seventies presented with persistent postmenopausal bleeding. Transvaginal ultrasonography demonstrated endometrial thickening, and endometrial biopsy revealed metastatic melanoma confirmed by immunohistochemical positivity for S100, SOX10, HMB-45, and Melan-A. Positron emission tomography-computed tomography identified fluorodeoxyglucose uptake in the uterine corpus and a metabolically active subcutaneous lesion in the right anterolateral abdominal wall. Surgical excision of the abdominal lesion confirmed metastatic melanoma. Despite extensive investigations, including dermatological examination, ophthalmological assessment, and imaging studies, no primary tumor was identified. The patient underwent hysterectomy followed by adjuvant nivolumab. At 24-month follow-up, no evidence of disease recurrence was detected. <b>Conclusions</b>: Endometrial metastasis of melanoma may occur in the absence of an identifiable primary lesion and should be considered in patients presenting with abnormal uterine bleeding, particularly those with a history of melanoma or unexplained metastatic disease. Because these lesions frequently present as polypoid, nodular, or infiltrative endometrial masses, prompt hysteroscopy and endometrial sampling are essential for diagnosis. This case highlights the importance of comprehensive histopathological evaluation and multidisciplinary management in rare presentations of metastatic melanoma.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights.","authors":"Maria Rogalidou, Konstantina Dimakou, Kalliopi Stefanaki, Amalia Patereli, Alexandra Papadopoulou","doi":"10.3390/reports9030310","DOIUrl":"10.3390/reports9030310","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Congenital tufting enteropathy (CTE), or autosomal recessive congenital diarrhea type 5 (DIAR5), is a rare intestinal epithelial disorder characterized by severe neonatal-onset watery diarrhea, failure to thrive, and intestinal failure. Most cases are caused by biallelic EPCAM variants. <b>Case Presentation:</b> A 53-day-old female infant presented with severe watery diarrhea and failure to thrive from the first days of life. She was born at term with a birth weight of 3.4 kg and had 10-20 watery stools daily. At admission, she was dehydrated, dystrophic, and below the third weight percentile. Diarrhea persisted despite an amino acid-based formula and cessation of enteral feeding. Duodenal biopsy showed disturbed villous-crypt architecture, variable lamina propria inflammation, absence of intraepithelial lymphocytosis, epithelial tufts, and regenerative epithelial changes, supporting CTE. Whole-exome sequencing identified compound heterozygous EPCAM variants: a maternally inherited likely pathogenic frameshift variant, c.687_688del, p.(Lys230Asnfs*23), and a paternally inherited missense variant, c.757G>A, p.(Asp253Asn), classified as a variant of uncertain significance. TPN was initiated for intestinal failure. Follow-up was complicated by catheter-related sepsis, cholelithiasis, and recurrent pancreatitis requiring laparoscopic cholecystectomy. She subsequently tolerated limited enteral feeding but did not achieve enteral autonomy and remained dependent on TPN, while maintaining normal growth with nutritional support. <b>Conclusions:</b> CTE should be considered in infants with severe neonatal-onset diarrhea. Histopathology combined with genetic testing is essential for diagnosis. Long-term TPN and multidisciplinary management are required.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel <i>ABCC8</i> Variant in an Adult with Hyperinsulinemic Hypoglycemia Suggestive of Congenital Hyperinsulinism: A Case Report.","authors":"Hadas Rabani, Ilana Rosenblat, Khaled Osman, Adel Shalata, Leonard Saiegh","doi":"10.3390/reports9030305","DOIUrl":"10.3390/reports9030305","url":null,"abstract":"<p><p><b>Background and Clinical Significance</b>: Congenital hyperinsulinism (CHI) is a disorder involving excessive insulin secretion due to mutations in the insulin regulation pathways. Patients are typically diagnosed during infancy following recurrent hypoglycemic events, which may lead to irreversible neurologic damage if left untreated. Adult presentation and diagnosis are rare. <b>Case Presentation</b>: Here, we report the unusual case of a 41-year-old patient who presented with recurrent episodes of hyperinsulinemic hypoglycemia. An extensive diagnostic evaluation yielded no evidence of an acquired cause. Genetic testing revealed a heterozygous novel c.4078G>C substitution in the <i>ABCC8</i> gene, which plays a role in the insulin secretion pathway. This variant may have been the cause for CHI going unrecognized during the patient's childhood and could have also contributed to his uncontrolled convulsive disorder. Treatment with diazoxide and octreotide led to significant clinical improvement, with no severe hypoglycemic events during the final week of hospitalization. <b>Conclusions:</b> This case emphasizes the importance of considering congenital hyperinsulinism in the differential diagnosis of adult patients evaluated for hyperinsulinemic hypoglycemia, especially when standard workup fails to identify an underlying cause.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bronchial Ligation as a Temporizing Procedure for Hemoptysis Caused by Acute Type B Aortic Dissection Rupturing into the Lung with Subsequent TEVAR: A Case Report.","authors":"Ryo Maekawa, Shun-Ichiro Sakamoto, Atsushi Hiromoto, Kenji Suzuki, Yosuke Ishii","doi":"10.3390/reports9030306","DOIUrl":"10.3390/reports9030306","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Hemoptysis caused by acute type B aortic dissection rupturing into the lung is rare but life-threatening; <b>Case Presentation:</b> An 81-year-old man receiving maintenance hemodialysis developed hemoptysis due to an aortobronchial fistula involving the left upper lobe. The ulcer-like projection was located on the greater curvature of the distal aortic arch and enlarged during the clinical course. Immediate thoracic endovascular aortic repair (TEVAR) and open repair were initially considered unsuitable because of hostile access through a previous abdominal aortic graft, a shaggy aorta, and severe cardiac comorbidities. Left upper lobe bronchial ligation was performed as a temporizing airway-isolation procedure and initially controlled airway bleeding. However, recurrent hemoptysis occurred after further enlargement of the aortic lesion and development of a new fistula involving the left lower lobe. Emergency TEVAR was then performed through the previous abdominal aortic prosthetic graft, and no further hemoptysis occurred; <b>Conclusions:</b> Bronchial ligation may temporarily control life-threatening airway bleeding when immediate aortic repair is not feasible, but strict surveillance and readiness for subsequent aortic intervention remain essential.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer-Associated Retinopathy Presenting with Paraneoplastic Cerebellar Degeneration in Tonsillar Squamous Cell Carcinoma: A Case Report.","authors":"Yeseo Kwon, Pooja Raibagkar, Bharat B Yarlagadda, Jayashri Srinivasan, David J Ramsey","doi":"10.3390/reports9030307","DOIUrl":"10.3390/reports9030307","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Cancer-associated retinopathy (CAR) is a rare paraneoplastic autoimmune retinopathy caused by antibodies targeting tumor antigens with cross-reactivity to retinal proteins. Paraneoplastic cerebellar degeneration (PCD) results from autoimmune injury to cerebellar tissue triggered by onconeural antigens. We report a rare case of CAR occurring concurrently with seronegative PCD in a patient with poorly differentiated tonsillar squamous cell carcinoma, and we describe the long-term sequelae of CAR-related macular atrophy; <b>Case Presentation:</b> A 66-year-old male presented with progressive painless bilateral peripheral and night vision loss, truncal ataxia, dysmetria, and dysarthria. Optical coherence tomography demonstrated diffuse outer retinal loss, and multifocal electroretinography showed markedly reduced responses bilaterally. Evaluation revealed poorly differentiated squamous cell carcinoma of the right tonsil. CAR antibody testing was positive for recoverin, enolase, and carbonic anhydrase II antibodies. Brain MRI demonstrated cerebellar atrophy. After exclusion of other autoimmune etiologies, he was diagnosed with seronegative PCD. Treatment included robotic tonsillectomy with neck dissection, intravenous immunoglobulin, high-dose corticosteroids, and maintenance rituximab. At 6 months, visual acuity, color vision, and electro-retinography improved. Seven years later, he remains independent in activities of daily living despite the progression of retinal atrophy and cerebellar dysfunction; <b>Conclusions:</b> This case highlights the rare coexistence of CAR and seronegative PCD associated with tonsillar squamous cell carcinoma. Multimodal oncologic and immunosuppressive therapy produced meaningful neurologic and visual improvement, despite progressive long-term retinal degeneration.</p>","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"9 3","pages":""},"PeriodicalIF":0.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13611654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}