Radiology Case Reports最新文献

Case series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants. 病例系列：由SLC2A10纯合子变异证实的动脉扭曲综合征。

Radiology Case Reports Pub Date : 2026-05-28 eCollection Date: 2026-08-01 DOI: 10.1016/j.radcr.2026.05.005

Abdullah AlBathi, Bader A AlHariqi, Tasneem Rashid, Moayad AlMaimani, Omar AlKhajah, Ahmed AlDraihem

{"title":"Case series: Arterial tortuosity syndrome confirmed by homozygous <i>SLC2A10</i> variants.","authors":"Abdullah AlBathi, Bader A AlHariqi, Tasneem Rashid, Moayad AlMaimani, Omar AlKhajah, Ahmed AlDraihem","doi":"10.1016/j.radcr.2026.05.005","DOIUrl":"10.1016/j.radcr.2026.05.005","url":null,"abstract":"<p><p>Arterial tortuosity syndrome (ATS) is a very rare inherited connective tissue disorder caused by pathogenic variants in Solute Carrier Family 2 Member 10 (SLC2A10) gen<i>e</i>. It primarily affects the large and medium-sized arteries, leading to abnormal elongation and tortuosity of the vascular tree. In children, the condition can present in markedly different ways, making early diagnosis challenging. We describe 3 children with genetically confirmed ATS who demonstrated strikingly different clinical courses. They underwent comprehensive cardiovascular evaluation using echocardiography, CT angiography, and whole-body MRI. Imaging in these cases revealed diffuse arterial tortuosity involving the aorta and its major branches, without aneurysm formation, dissection, or significant obstruction. Clinically, however, the presentations differed substantially. One patient, a neonate, presented early with respiratory distress and severe feeding difficulties and showed extensive systemic and pulmonary arterial involvement. The second patient, a 15-month-old infant, was clinically well and demonstrated a much milder vascular phenotype with preserved cardiopulmonary function. The third patient, a 6-month-old male, was referred for surgical management of a diaphragmatic hernia and evaluation of suspected ATS with an associated atrial septal defect (ASD) based on initial echocardiography. These cases highlight the wide clinical and imaging spectrum of ATS, even among patients with the same genetic diagnosis. Awareness of characteristic imaging features is essential for radiologists, as early recognition can lead to timely genetic confirmation, appropriate multidisciplinary care, and tailored long-term follow-up.</p>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 8","pages":"3504-3510"},"PeriodicalIF":0.0,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13233726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148201142","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}

引用次数: 0

Cervical flexion-induced myelopathy (Hirayama disease): A radiology case report. 颈椎屈曲性脊髓病（平山病）：影像学1例报告。

Radiology Case Reports Pub Date : 2026-05-25 eCollection Date: 2026-08-01 DOI: 10.1016/j.radcr.2026.04.078

Balamurugan Ulaganathan, Arul Sakthi Priya Pandian, Eswaramoorthy Sellamuthu, Usha Jayagurunathan

{"title":"Cervical flexion-induced myelopathy (Hirayama disease): A radiology case report.","authors":"Balamurugan Ulaganathan, Arul Sakthi Priya Pandian, Eswaramoorthy Sellamuthu, Usha Jayagurunathan","doi":"10.1016/j.radcr.2026.04.078","DOIUrl":"10.1016/j.radcr.2026.04.078","url":null,"abstract":"<p><p>Hirayama disease is a self-limiting cervical flexion myelopathy that typically affects adolescent and young adult males presenting with unilateral or asymmetric distal upper-limb weakness and atrophy. Early diagnosis is important because avoiding neck flexion with cervical collar immobilization may limit ongoing spinal cord injury and selected patients may require surgery. We report a 19-year-old male with 1 year of left-hand weakness involving the middle and ring fingers with progressive difficulty in daily activities. Neurologic examination revealed distal hand muscle wasting and weakness without sensory loss or upper motor neuron signs. Abnormalities were observed in Nerve conduction studies. Cervical MRI demonstrated subtle lower cervical cord atrophy and focal intramedullary T2 hyperintensity in the neutral position. Dynamic flexion MRI showed anterior displacement of the posterior dura with widening of the posterior epidural space, prominent epidural flow voids, and post-contrast enhancement consistent with engorged epidural venous plexus. The patient was managed conservatively with a cervical collar and activity modification; he remained clinically stable at 12-month follow-up. This case emphasizes the neutral-position MRI clues that should prompt flexion imaging and provide a reproducible dynamic MRI technique description relevant to radiology practice.</p>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 8","pages":"3436-3440"},"PeriodicalIF":0.0,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13223860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152213","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}

引用次数: 0

Herpes zoster ophthalmicus with atypical occipital lobe and splenial lesions: A case report 带状疱疹伴不典型枕叶及脾损害1例

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1016/j.radcr.2026.01.062

Serena Fadell BSc , Steve Nelson MD, PhD

{"title":"Herpes zoster ophthalmicus with atypical occipital lobe and splenial lesions: A case report","authors":"Serena Fadell BSc , Steve Nelson MD, PhD","doi":"10.1016/j.radcr.2026.01.062","DOIUrl":"10.1016/j.radcr.2026.01.062","url":null,"abstract":"<div><div>A 32-year-old male with past medical history of migraine headaches (last episode 15 years prior) presented with persistent headache lasting 2 days and with associated nausea, photophobia and phonophobia concerning for migraine. Subsequent visits to outside facilities suggested a cortical/subcortical infarct of the left medial occipital lobe secondary to migraines. However, after continued symptoms and the subsequent development of a maculopapular rash along the right orbit and eyelid, suspicion grew that this was not a simple case of migraine induced infarct. Cerebral spinal fluid analysis showed markedly elevated VZV antibodies further raising suspicion. After a 1-week course of high-dose oral valacyclovir the rash and headache resolved. This case demonstrates an atypical pattern of CNS involvement in herpes zoster ophthalmicus, with simultaneous splenial and medial occipital lesions - an imaging pattern not commonly reported in immunocompetent adults. The findings also highlight the importance of a good clinical history and the superior sensitivity of MRI in detecting subtle varicella-zoster-related encephalitic changes when CT is nondiagnostic.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 5","pages":"Pages 1856-1860"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146192949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe neuro-behçet’s disease refractory: Radiologic improvement with tocilizumab 严重神经性难治性疾病：托珠单抗的放射学改善

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1016/j.radcr.2026.01.032

Kaouthar Benyarou MD, Sanae El hasnaoui MD, Samah Yousfi MD, Yassine Mebrouk MD,PhD

{"title":"Severe neuro-behçet’s disease refractory: Radiologic improvement with tocilizumab","authors":"Kaouthar Benyarou MD, Sanae El hasnaoui MD, Samah Yousfi MD, Yassine Mebrouk MD,PhD","doi":"10.1016/j.radcr.2026.01.032","DOIUrl":"10.1016/j.radcr.2026.01.032","url":null,"abstract":"<div><div>Neuro-Behçet’s disease (NBD) is a rare and potentially severe manifestation of Behçet’s disease, frequently associated with poor neurological outcomes. Management relies on high-dose corticosteroids and immunosuppressive agents, yet a subset of patients develops rapidly progressive and treatment-refractory disease. We report the case of a 39-year-old man with Behçet’s disease who presented with progressive neurological deterioration. Brain magnetic resonance imaging (MRI) revealed multiple inflammatory lesions involving the brainstem and cerebral hemispheres, with subsequent radiological progression despite intensive immunosuppressive therapy. Tocilizumab, an interleukin-6 receptor antagonist, was introduced as salvage treatment in the context of rapid disease worsening. Follow-up MRI demonstrated a striking regression of inflammatory lesions. However, this radiological improvement was not accompanied by clinical recovery, and the patient ultimately died due to severe systemic complications. This case illustrates a marked dissociation between radiological response and clinical outcome in severe, refractory neuro-Behçet’s disease. While the imaging findings suggest a potential effect of IL-6 blockade on inflammatory brain lesions, they also underscore the limitations of radiological improvement as a surrogate marker of clinical benefit. This observation highlights the complexity of disease progression in NBD and the critical importance of early intervention and comprehensive systemic management.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 5","pages":"Pages 1871-1875"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146193258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Giant internal carotid artery aneurysm at lacerum segment: A case report 巨大颈内动脉瘤位于撕裂段1例

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1016/j.radcr.2026.01.033

Rodríguez-Sánchez Ximena MD, Guerrero-Manríquez Rosalinda MD, Cruz-González Leopoldo Isaac MD, Martínez-Bencomo Michel Augusto MD

引用次数: 0

A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance 一个放射学病例系列的三个兄弟姐妹与成骨不全和共同父系遗传

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-11 DOI: 10.1016/j.radcr.2025.06.117

Dario Agustinus Nelwan MD, Muhammad Ilyas MD, PhD, Rafikah Rauf MD, Stella Clarissa MD, Muhammad Fauzi Mochtar MD

{"title":"A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance","authors":"Dario Agustinus Nelwan MD, Muhammad Ilyas MD, PhD, Rafikah Rauf MD, Stella Clarissa MD, Muhammad Fauzi Mochtar MD","doi":"10.1016/j.radcr.2025.06.117","DOIUrl":"10.1016/j.radcr.2025.06.117","url":null,"abstract":"<div><div>Osteogenesis imperfecta (OI), or brittle bone disease, is a genetically inherited connective tissue syndrome that manifests through autosomal dominant or recessive patterns. We present an unusual case involving three siblings with the same father but different mothers. The patients had extremely short stature, recurrent fractures, and varying degrees of severity of OI, in addition to distinctive features such as blue sclera and dentinogenesis imperfecta. The radiographic skeletal surveys revealed the characteristic features of OI in all three siblings. The patients exhibited Wormian bones, multiple fractures with callus formation, bowing of the long bones, accordion ribs, platyspondyly, and kyphoscoliosis. The patients were admitted for inpatient administration of two doses of intravenous zoledronic acid, allowing for monitoring of potential adverse effects. At the 7-month follow-up, the patients reported a reduction in fractures and a notable improvement in their ability to perform daily activities, including the capacity to sit without assistance. The patients did not experience any significant adverse effects from the zoledronic acid. Radiology is vital for diagnosing OI as it highlights the unique skeletal patterns, assists in identifying the specific OI phenotype, and evaluates the severity, particularly when genetic testing is inaccessible.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 5","pages":"Pages 1777-1782"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146147455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Enchondroma of the middle phalanx of the fourth finger treated with cancellous bone grafting: A case report 松质骨移植治疗无名指中指骨内生纤维瘤1例

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-14 DOI: 10.1016/j.radcr.2026.01.051

Morteza Gholipour MD , Mahdi Mansourzadegan MD , Amirhossein Salmannezhad MD , Pooya Gheisari MD , Arman Namazi MD , Fatemeh Abbasi MD

引用次数: 0

Tuberculous lymphadenitis presenting with hypercalcemia and acute kidney injury: Diagnostic challenges and management insights: A case report 结核性淋巴结炎表现为高钙血症和急性肾损伤：诊断挑战和管理见解：1例报告

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-11 DOI: 10.1016/j.radcr.2025.06.049

Sushrut Gupta , Sunny Malde , Pranjal Kashiv , Shubham Dubey , Twinkle Pawar , Vijay Jeyachandran , Mohit Kurundwadkar , Kapil Sejpal , Charulata Bawankule , Amit Pasari , Manish Balwani

{"title":"Tuberculous lymphadenitis presenting with hypercalcemia and acute kidney injury: Diagnostic challenges and management insights: A case report","authors":"Sushrut Gupta , Sunny Malde , Pranjal Kashiv , Shubham Dubey , Twinkle Pawar , Vijay Jeyachandran , Mohit Kurundwadkar , Kapil Sejpal , Charulata Bawankule , Amit Pasari , Manish Balwani","doi":"10.1016/j.radcr.2025.06.049","DOIUrl":"10.1016/j.radcr.2025.06.049","url":null,"abstract":"<div><div>Tuberculous lymphadenitis, though uncommon, represents an important and potentially underrecognized cause of severe hypercalcemia and associated renal impairment. It underscores the importance of evaluating granulomatous diseases in unexplained hypercalcemia and demonstrates the role of denosumab as an effective adjunct therapy when conventional treatment modalities fail to correct hypercalcemia associated with tuberculosis. This case report of a 69-year-old female who presented with altered sensorium, oliguria, post-traumatic stress disorder (PTSD). Evaluation revealed hypercalcemia and acute kidney injury. Imaging showed extensive retroperitoneal lymphadenopathy, raising suspicion of a granulomatous disorder. Denosumab (120 mg IV) was administered alongside modified anti-tuberculosis therapy (ATT), resulting in normalization of serum calcium levels, renal function recovery, and resolution of neurological symptoms. Tuberculous lymphadenitis may present with severe hypercalcemia and acute kidney injury, mimicking neuropsychiatric conditions. Accurate diagnosis requires biochemical, radiological, and microbiological evaluation. While anti-tuberculosis therapy (ATT) is primary, denosumab is effective for hypercalcemia management in renal dysfunction. Early recognition and targeted treatment are crucial for optimal patient outcomes. This case emphasizes the need to consider granulomatous diseases like tuberculosis in the differential diagnosis of unexplained hypercalcemia with renal dysfunction. Denosumab serves as a safe and effective therapeutic option for managing severe hypercalcemia, especially in patients with contraindications to bisphosphonates due to renal impairment.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 5","pages":"Pages 1769-1772"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146147454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare but fatal outcome is hepatocellular carcinoma (HCC) progressing to the right atrial tumor thrombus and inferior vena cava 一种罕见但致命的结果是肝细胞癌（HCC）进展到右心房肿瘤血栓和下腔静脉

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1016/j.radcr.2026.01.014

Lam Truong Hoai MD, Anh Dang Thi Ngoc MD, Nam Vu Hoang MD, Nhat Nguyen Van Phuong, Vo Van Tho MD, Van Dong Luan MD

{"title":"A rare but fatal outcome is hepatocellular carcinoma (HCC) progressing to the right atrial tumor thrombus and inferior vena cava","authors":"Lam Truong Hoai MD, Anh Dang Thi Ngoc MD, Nam Vu Hoang MD, Nhat Nguyen Van Phuong, Vo Van Tho MD, Van Dong Luan MD","doi":"10.1016/j.radcr.2026.01.014","DOIUrl":"10.1016/j.radcr.2026.01.014","url":null,"abstract":"<div><div>Hepatocellular carcinoma (HCC) frequently presents with vascular invasion; however, extension of tumor thrombus into the right atrium via the inferior vena cava (IVC) is rare and associated with a poor prognosis. A 48-year-old man presented with progressive dyspnea on minimal exertion. Imaging studies, including transthoracic echocardiography and contrast-enhanced computed tomography, revealed a large hepatic mass with tumor thrombus extending through the hepatic veins and inferior vena cava (IVC) into the right atrium. Due to advanced liver disease and poor performance status, surgical and interventional therapies were not feasible. The patient received supportive treatment including anticoagulation with low molecular weight heparin. Despite treatment, his clinical condition rapidly deteriorated, leading to death shortly after diagnosis. This case highlights the importance of multimodal imaging in identifying intracardiac extension of Hepatocellular carcinoma (HCC) and underscores its grave prognosis.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 5","pages":"Pages 1867-1870"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146192954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Benign mass-like lesion at the cholecystectomy bed: A case report of unusual postcholecystectomy imaging findings 胆囊切除术床良性肿块样病变：胆囊切除术后异常影像学表现1例报告

Radiology Case Reports Pub Date : 2026-05-01 Epub Date: 2026-02-13 DOI: 10.1016/j.radcr.2026.01.035

Niloofar Ayoobi Yazdi , Mohammadreza Tahamtan , Shahriar Rahmani , Faeze Salahshour , Sajjad Alizadeh , Roberto Cannella

引用次数: 0