Radiology Case Reports最新文献

{"title":"Spondylocostal dysostosis: A rare and remarkable syndrome","authors":"Basma Dghoughi MD,&nbsp;Basma Beqqali MD,&nbsp;Hajar Andour MD,&nbsp;Nazik Allali PhD,&nbsp;Latifa Chat PhD,&nbsp;Siham El Haddad PhD","doi":"10.1016/j.radcr.2025.02.062","DOIUrl":"10.1016/j.radcr.2025.02.062","url":null,"abstract":"<div><div>Spondylocostal dysostosis (SCD) is a rare autosomal recessive congenital disorder, characterized by a spectrum of clinical and radiographic abnormalities affecting the spine and chest. The key features of the syndrome include short stature, spinal abnormalities with vertebral malformations. These skeletal malformations result in a reduced thoracic cavity, leading to respiratory complications, often accompanied by frequent chest infections. Diagnosis is primarily made in newborn phase, based on characteristic physical appearance, symptoms of thoracic insufficiency, family history, skeletal surveys, and, when available, genetic testing for specific mutations. While the syndrome's severity varies, milder forms are compatible with life, while more severe cases present significant challenges in respiratory management. We report the case of a 9-year-old girl diagnosed with SCD based on clinical-radiological findings.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2772-2776"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629174","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 TPM3-NTRK1 fusion in a fetal pelvic mass","authors":"Maryam Kazelka BS ,&nbsp;Lei Shao MD ,&nbsp;Marty McGraw MD ,&nbsp;Jennifer Neville Kucera MD, MS","doi":"10.1016/j.radcr.2025.02.079","DOIUrl":"10.1016/j.radcr.2025.02.079","url":null,"abstract":"<div><div>Early recognition and characterization of soft tissue tumors is important for proper fetal and maternal care. Here, we present sonographic, fetal and postnatal MRI, and pathological findings of a rare case of congenital NTRK-rearranged malignant spindle cell sarcoma with TPM3-NTRK1 fusion in a male fetus.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2671-2675"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628286","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":"Radiolucent gallstone ileus causing proximal small bowel obstruction: A case report","authors":"Abdulmalek Alzahrani ,&nbsp;Mohammad Alsayed ,&nbsp;Jalal A. Zahhar ,&nbsp;Saga Ali ,&nbsp;Samira Alturkistany","doi":"10.1016/j.radcr.2025.02.002","DOIUrl":"10.1016/j.radcr.2025.02.002","url":null,"abstract":"<div><div>Gallstone ileus occurs when gallbladder stones erode and become lodged in the small bowel, thereby causing obstruction. These stones usually impact the terminal ileum because of its narrow lumen; however, they can also be found in less common locations, as observed in our case. The presence of pneumobilia can indicate gallstone ileus even without visible radiopaque stones because not all gallstones are detectable on computed tomography (CT). A 74-year-old woman presented to the emergency department with severe right upper quadrant pain that started 1 week previously and became more aggressive associated with fever, leukocytosis, and vomiting. The pain was colicky, intermittent, and aggravated by movement but did not radiate. Further imaging was requested to investigate the cause of the pain, which revealed evidence of proximal small bowel obstruction due to radiolucent gallstone ileus. Radiolucent gallstone ileus is a rare but serious condition requiring prompt surgical intervention. The presence of pneumobilia can indicate gallstone ileus even when the stones are not visible on CT. Large stones can cause blockages in the proximal small bowel. The ability of radiological imaging to detect gallstones varies according to their composition.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2788-2793"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629169","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":"Percutaneous transhepatic embolization of gastro-esophageal varices for the treatment of variceal bleeding in portal vein thrombosis secondary to hepatocellular carcinoma: A case report","authors":"Amol S. Rathod,&nbsp;Pankaj Banode","doi":"10.1016/j.radcr.2025.02.055","DOIUrl":"10.1016/j.radcr.2025.02.055","url":null,"abstract":"<div><div>Percutaneous transhepatic embolization (PTE) is a minimally invasive and effective intervention for managing refractory variceal bleeding in patients with portal vein thrombosis (PVT) secondary to hepatocellular carcinoma (HCC). This case report highlights the successful application of PTE in a 69-year-old nonalcoholic male with chronic liver disease and HCC. The patient, previously treated with transarterial chemoembolization (TACE) for segment VIII HCC, presented recurrent hematemesis and significant anemia despite prior endoscopic esophageal variceal band ligation. Diagnostic imaging revealed portal vein thrombosis and extensive gastro-esophageal varices. Given the patient's unresponsiveness to conventional endoscopic treatments, an emergency PTE was performed. Using a percutaneous transhepatic approach, the left portal vein was accessed under real-time ultrasound guidance. Subsequent venography confirmed extensive varices draining into the splenic artery. Embolization involved deploying a combination of pushable coils and a 20% glue solution, which achieved complete obliteration of the varices, as confirmed by nonprocedure imaging. The track from the liver surface to the left portal vein was sealed using a glue-lipiodol mixture to prevent complications. The patient demonstrated significant clinical improvement postprocedure, with no further episodes of hematemesis. Hemoglobin levels stabilized following transfusion of packed red cells, and the patient was discharged in stable condition. This case underscores the role of PTE as a safe and effective salvage therapy for refractory variceal bleeding in complex cases involving PVT secondary to HCC.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2763-2767"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629170","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":"Long overlooked: Adult VACTERL association unmasked by a large patent ductus arteriosus","authors":"Aravindharaj Tamilselvan MBBS, MD,&nbsp;Machaiah Kallumadanda Mohan MBBS, MD","doi":"10.1016/j.radcr.2025.02.050","DOIUrl":"10.1016/j.radcr.2025.02.050","url":null,"abstract":"<div><div>VACTERL associations are typically diagnosed in neonates and infants, with adult presentations being rare. This case report presents an adult patient diagnosed with VACTERL association following the discovery of a significant patent ductus arteriosus.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2758-2762"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628219","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 gliosarcoma: Comprehensive radiological, histopathological, and clinical insights into diagnosis and management","authors":"Paritosh Bhangale MBBS,&nbsp;Shivali Kashikar MD,&nbsp;Pratapsingh Hanuman Parihar MD,&nbsp;Ravishankar Patil MD,&nbsp;Viraj Gupta MBBS,&nbsp;Dhananjay Shinde MBBS,&nbsp;Devyansh Nimodia MBBS","doi":"10.1016/j.radcr.2025.02.048","DOIUrl":"10.1016/j.radcr.2025.02.048","url":null,"abstract":"<div><div>Gliosarcoma is a rare and aggressive variant of glioblastoma, characterized by a biphasic histological pattern consisting of both glial and mesenchymal components. This case report describes the clinical presentation, radiological findings, surgical management, and histopathological analysis of gliosarcoma in a 30-year-old female. The patient presented with a 10-day history of right-sided headache and recurrent vomiting. Neurological examination was unremarkable, and vital signs were stable. Magnetic resonance imaging (MRI) revealed a heterogeneously enhancing mass lesion involving the right parietal region and the splenium of the corpus callosum, crossing the midline and causing significant ventricular effacement. Imaging features included heterogeneously hypointense signals on T1-weighted imaging, hyperintense signals on T2/FLAIR, areas of blooming on susceptibility-weighted imaging, and restricted diffusion on diffusion-weighted imaging, suggestive of a high-grade glial tumor. The patient underwent surgical resection, and histopathological examination confirmed gliosarcoma. The tumor exhibited a biphasic pattern comprising glial and sarcomatous elements. This case emphasizes the diagnostic challenges associated with gliosarcoma, where radiological features often mimic glioblastoma, necessitating histopathological confirmation. Gliosarcoma's aggressive nature poses significant therapeutic challenges, with treatment strategies involving surgical resection followed by adjuvant radiotherapy and chemotherapy. This report highlights the importance of integrating clinical, radiological, and histopathological findings to achieve an accurate diagnosis and optimize treatment outcomes. It underscores the need for early recognition and a multidisciplinary approach to managing rare central nervous system tumors like gliosarcoma. Further research into advanced therapeutic strategies is warranted to improve the prognosis for such patients.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2676-2681"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628221","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":"Exceptional localization of intramuscular hemangioma: Insights from a 66-year-old case","authors":"Joud Boutaleb MD ,&nbsp;Basma Beqqali MD ,&nbsp;Sarah Loubaris MD ,&nbsp;Manal El Beyeg MD ,&nbsp;Ouijdane Zamani MD, PhD ,&nbsp;Znati Kaoutar MD, PhD ,&nbsp;Rachida Saouab MD, PhD ,&nbsp;Jamal El Fenni MD, PhD","doi":"10.1016/j.radcr.2025.02.090","DOIUrl":"10.1016/j.radcr.2025.02.090","url":null,"abstract":"<div><div>Intramuscular hemangiomas are rare benign vascular tumors, accounting for less than 1% of all hemangiomas. They often present with subtle symptoms that gradually worsen over time. Magnetic resonance imaging (MRI) is the gold standard for diagnosis, providing detailed lesion characterization. Surgical resection remains the preferred treatment. We report the case of a 66-year-old patient with a painful swelling in the calf that had progressively increased in size over ten years, originating from the flexor hallucis longus muscle.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2710-2714"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628280","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":"Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy","authors":"Megumi Matsukawa MD ,&nbsp;Masayuki Maeda MD, PhD ,&nbsp;Fumine Tanaka MD, PhD ,&nbsp;Ryota Kogue MD, PhD ,&nbsp;Maki Umino MD, PhD ,&nbsp;Akisato Nishigaki MD ,&nbsp;Hajime Sakuma MD, PhD","doi":"10.1016/j.radcr.2025.02.088","DOIUrl":"10.1016/j.radcr.2025.02.088","url":null,"abstract":"<div><div>Kearns-Sayre Syndrome (KSS) is a rare multisystem mitochondrial disorder affecting muscles, the central nervous system, and the endocrine system. KSS is characterized by T2WI/FLAIR hyperintensities in the subcortical white matter, brainstem, globi pallidi, thalami, and middle cerebellar peduncles. Here, we report a case of KSS with extraocular muscle atrophy in which MRI performed approximately 10 years after the initial MRI examination revealed lesion expansion and diffusion restriction of subcortical white matter affecting U-fibers.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2646-2650"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628281","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":"Prenatal diagnosis of micrognathia and postnatal identification of cleft soft palate: A case report","authors":"Saburi Singhania,&nbsp;Shivali Kashikar,&nbsp;Vaishali Dhawan,&nbsp;Pratapsingh Parihar","doi":"10.1016/j.radcr.2025.02.028","DOIUrl":"10.1016/j.radcr.2025.02.028","url":null,"abstract":"<div><div>This case report details the prenatal diagnosis of fetal micrognathia using advanced ultrasound techniques and highlights its role in anomaly detection and perinatal management. A 33-year-old primigravida presented for routine antenatal care at 30 weeks of gestation. Ultrasound revealed mandibular hypoplasia with an Inferior Facial Angle (IFA) of 46.2° (below the diagnostic threshold of 50°) and a reduced Jaw Index, confirming micrognathia. Three-dimensional ultrasound provided additional visualization of the retronasal triangle, where the absence of a normal mandibular gap further supported the diagnosis. Biometric parameters, including head circumference and femur length, were within normal limits. The neonate, delivered at 38 weeks via spontaneous labor, weighed 3.2 kg with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Postnatal examination confirmed micrognathia and revealed a cleft soft palate, undetected on prenatal imaging. No airway intervention was required at birth, and surgical correction of the cleft palate was planned at 8 months of age. We present a case that underscores the reliability of prenatal ultrasound, particularly the use of objective criteria like IFA and Jaw Index, in diagnosing micrognathia. It also highlights the importance of multidisciplinary management for optimizing outcomes and addressing associated anomalies. The findings emphasize the need for comprehensive postnatal evaluation and continued advancements in prenatal imaging techniques.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2637-2641"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628290","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 muscular cysticercosis: Incidental discovery in a patient presenting with inguinal swelling","authors":"Riya Yadav,&nbsp;Pratapsingh Parihar","doi":"10.1016/j.radcr.2025.02.058","DOIUrl":"10.1016/j.radcr.2025.02.058","url":null,"abstract":"<div><div>Muscular cysticercosis is a rare infection caused by <em>Taenia solium</em>, typically identified incidentally during imaging for unrelated symptoms. This report describes the case of a 60-year-old male who presented with a 6-month history of dull abdominal pain and swelling in the left inguinal region. The abdominal pain, initially localized to the right hypochondrium, gradually radiated to the left hypochondrium, with no known triggers or alleviating factors. The left inguinal swelling was nontender, soft, and exhibited a cough impulse. The patient had a medical history of nonmuscle invasive low-grade papillary urothelial carcinoma, treated with transurethral resection of bladder tumor (TURBT) and intravesical BCG therapy. Radiological investigations, including contrast-enhanced computed tomography (CECT) of the abdomen and pelvis, revealed multiple calcified granulomas measuring 9-10 mm in the left diaphragm, bilateral intercostal muscles, left erector muscle, right psoas muscle, and bilateral gluteal and thigh muscles. These findings were consistent with muscular cysticercosis. An X-ray AP view of the bilateral upper thighs corroborated these findings, showing multiple radiopaque soft tissue lesions in the bilateral gluteal and thigh muscles. A hypodense lesion in the spleen, measuring 12 × 8 mm, was also observed, with no evidence of malignancy. This case underscores the importance of thorough diagnostic evaluation in endemic regions, where parasitic infections such as cysticercosis may present atypically. While the patient's primary complaints were not directly related to cysticercosis, the incidental findings emphasized the value of imaging in identifying and managing such conditions. Awareness and early recognition of muscular cysticercosis are crucial to prevent complications and guide appropriate management.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 6","pages":"Pages 2729-2733"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628302","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}