{"title":"Imaging of Treacher Collins syndrome: A case report","authors":"Abhikanta Khatiwada , Bikram Thapa , Raju Pandit , Dependra Bhandari , Sharada KC","doi":"10.1016/j.radcr.2024.10.042","DOIUrl":"10.1016/j.radcr.2024.10.042","url":null,"abstract":"<div><div>Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome. Imaging revealed microtia, atresia of the external auditory canals, and hypoplastic middle ear structures. Additionally, facial abnormalities such as retrognathia, hypoplastic zygomatic bones, and a cleft palate were identified. This case underscores the crucial role of imaging in diagnosing Treacher Collins syndrome and guiding multidisciplinary management strategies.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650705","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":"Usefulness of arterial spin labeling MR angiography as preprocedural mapping for the intra-arterial chemotherapy in patients with maxillary sinus cancer: A case report","authors":"Isaku Oka MD , Akira Yogi MD, PhD , Kazuki Ishikawa MD, PhD , Joichi Heianna MD, PhD , Hiroyuki Maeda MD, PhD , Akihiro Nishie MD, PhD","doi":"10.1016/j.radcr.2024.10.117","DOIUrl":"10.1016/j.radcr.2024.10.117","url":null,"abstract":"<div><div>Arterial spin labeling (ASL) magnetic resonance angiography (MRA) (ASL-MRA) is a newly developed method that can visualize small arteries, particularly those running tortuously and inferiorly at slow flow rates. It provides excellent visualization of the external carotid artery system, with superior performance in visualizing the middle meningeal artery (MMA) compared to that of computed tomography angiography (CTA). Here, we report a case of maxillary sinus carcinoma in which ASL-MRA revealed an ipsilateral ophthalmic artery originating from the MMA that was not visualized on CTA. Volume rendering or maximum intensity projection images of CTA may fail to depict small arteries that run close to bony structures, including anomalies of the MMA originating from the external carotid artery system. In such cases, ASL-MRA may serve as a useful tool to easily visualize the arteries.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650864","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":"Two cases of fibrolipomatous hamartomas of the median nerve: A rare entity with pathognomonic MRI features","authors":"Antonios Michailidis MD , Ioannis Tsifountoudis MD, PhD , Ola Furmaga-Rokou MD , Anastasia Theocharidou MD , Evangelos Petsatodis MD, PhD","doi":"10.1016/j.radcr.2024.10.015","DOIUrl":"10.1016/j.radcr.2024.10.015","url":null,"abstract":"<div><div>Fibrolipomatous hamartomas of the median nerve are rare, benign tumors characterized by the overgrowth of fibro-fatty tissue within the nerve sheath, often leading to nerve compression. This report presents 2 cases: a 33-year-old man with a gradually enlarging wrist mass and a 48-year-old woman, initially diagnosed with De Quervain's tenosynovitis for radial pain, who was found to have an incidental fibrolipomatous hamartoma on MRI. In both cases, MRI played a pivotal role in diagnosis, revealing characteristic features that enabled a definitive, noninvasive diagnosis. Early recognition of these MRI findings is essential for guiding management and preventing unnecessary surgical interventions.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650704","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}
Dian Komala Dewi , Oki Kurniawan , Dudus Indra Gunawan , Harry Galuh Nugraha
{"title":"A case of choledochal cyst type IV","authors":"Dian Komala Dewi , Oki Kurniawan , Dudus Indra Gunawan , Harry Galuh Nugraha","doi":"10.1016/j.radcr.2024.10.033","DOIUrl":"10.1016/j.radcr.2024.10.033","url":null,"abstract":"<div><div>A choledochal cyst (CC) or biliary cyst is a congenital or acquired anomaly affecting the biliary tree. It involves the dilation of the biliary tree that could affect the extrahepatic and/or the intrahepatic segments. A choledochal cyst (CC) has traditionally been considered as a cystic dilation of the extrahepatic bile duct. The incidence of choledochal cysts is high in the Asian population with a female predominance. Choledochal cysts can present at any age, including infancy. However, 80% of choledochal cysts are diagnosed in the first decade of life, with cholestasis being the most common sign in infants, and cholangitis or pancreatitis being less common. Radiological and endoscopic imaging is the cornerstone of CC diagnosis. We report a case of 16 years old patient with choledocal cyst. The case has distinct clinical signs that are easily recognizable.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650700","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}
Phung Cong Bao Tran MD , Yen Thi Kim Nguyen MD , Khanh Ngoc Minh Nguyen MD , Viet Quoc Dang MD, PhD , Viet Doan Khac Tran MD, PhD , Quoc Anh Dao MD , Thanh Kien Lam MD , Phi Duong Nguyen MD
{"title":"Complex upper gastrointestinal bleeding: A case of combined peptic ulcer disease and ruptured gastroduodenal artery aneurysm in a pediatric patient","authors":"Phung Cong Bao Tran MD , Yen Thi Kim Nguyen MD , Khanh Ngoc Minh Nguyen MD , Viet Quoc Dang MD, PhD , Viet Doan Khac Tran MD, PhD , Quoc Anh Dao MD , Thanh Kien Lam MD , Phi Duong Nguyen MD","doi":"10.1016/j.radcr.2024.10.098","DOIUrl":"10.1016/j.radcr.2024.10.098","url":null,"abstract":"<div><div>Upper gastrointestinal (GI) bleeding in older children is generally caused by conditions like esophagitis, esophageal variceal rupture, and peptic ulcer disease. However, it is rare for bleeding to result from a ruptured vascular aneurysm of the gastroduodenal artery, particularly when associated with peptic ulcer disease. This report describes a case involving a 13-year-old male who presented with severe upper GI bleeding and hemodynamic instability, requiring blood transfusion. During an emergency upper GI endoscopy, a bleeding gastric ulcer classified as Forrest IIB was identified. The bleeding was managed initially with endoscopic hemostasis and surgical suturing. Despite these interventions, the patient experienced recurrent bleeding. Further investigation with contrast-enhanced computed tomography (CT) imaging revealed a vascular aneurysm in the gastroduodenal artery. The patient subsequently underwent successful endovascular embolization, as confirmed by digital subtraction angiography (DSA). Following this procedure, there were no further episodes of GI bleeding. This case highlights the critical need for thorough diagnostic evaluation using contrast-enhanced CT and endoscopy in managing complex GI bleeding cases. Early detection and appropriate intervention are essential, especially in pediatric patients where the cause of bleeding may be rare and severe.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650707","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":"Angiographic imaging of the testicular arteries with polyarteritis nodosa: A case report","authors":"Satoko Hayashi , Junko Araki , Takayuki Kurinobu , Kumi Kamoshida , Mari Tawara , Sairi Takahashi , Eisuke Takamasu , Yoshitaka Shida","doi":"10.1016/j.radcr.2024.10.021","DOIUrl":"10.1016/j.radcr.2024.10.021","url":null,"abstract":"<div><div>Polyarteritis nodosa (PAN) is a form of vasculitis characterized by necrotizing arteritis of medium or small arteries, and can involve any organ. Frequently, it affects multiple organs, but may sometimes be localized to single area such as the testes. Angiography can be a diagnostic alternative to tissue biopsy and surgery. Some previous studies have reported that presented the angiographic evidence of the involvement of the renal, hepatic, splenic, superior mesenteric, inferior mesenteric, and extremity arteries in PAN, but there are apparently no past reports of the involvement of the testicular arteries. We herein present angiographic findings of testicular artery involvement in PAN.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650706","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":"Osteosclerosing multiple myeloma: A case highlighting critical value of image findings for the diagnosis","authors":"Yuko Kobashi , Hideaki Suzuki , Masaru Nakagawa , Toshio Kojima , Ryusuke Tsujimura , Katsuhiro Miura , Hideki Nakamura , Masahiro Okada","doi":"10.1016/j.radcr.2024.10.059","DOIUrl":"10.1016/j.radcr.2024.10.059","url":null,"abstract":"<div><div>Osteosclerosing myeloma is a specific form of multiple myeloma. We present a case of a 63-year-old woman who was found to have anemia during her medical checkup. Her blood tests suggested multiple myeloma, but she had diffuse osteosclerotic changes mainly in the axial skeleton, such as osteoblastic bone metastasis. On the other hand, the bone scintigraphy and FDG-PET showed almost normal. Osteosclerosing myeloma is similar to osteoblastic bone metastases and POEMS (<em>p</em>olyneuropathy, <em>o</em>rganomegaly, <em>e</em>ndocrinopathy, <em>m</em>onoclonal gammopathy, and <em>s</em>kin changes) syndrome, but is characterized by a lack of response to nuclear medicine testing, reflecting very low activity. This case highlights the critical value of the image findings of osteosclerosis myeloma and promotes awareness of this highly unusual but unique form of the disease.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142594159","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":"Untreated ALCAPA diagnosed in gestational ultrasonography","authors":"Lam Truong Hoai MD , Nguyen Van Thanh MD , Nguyen Cong Thanh MD , Nguyen Duc Hung MD , Tran Duc Minh MD , Nguyen Tuan Long MD","doi":"10.1016/j.radcr.2024.10.031","DOIUrl":"10.1016/j.radcr.2024.10.031","url":null,"abstract":"<div><div>ALCAPA is a rare congenital anomaly that presents with left ventricular (LV) dysfunction and mitral valve regurgitation. The mortality rate is roughly 90% if the intracoronary collateral isn't significantly augmented. Malignant arrhythmias resulting in sudden death are common, affecting nearly 90% of patients with a mean age of 35 years. Especially during pregnancy, untreated ALCAPA can lead to high mortality and complications. Pregnant women with congenital heart disease have high risks for both themselves and their fetuses. Therefore, screening for congenital heart disease is very important in early diagnosis, counseling, and management. Most women born with congenital heart disease (CHD) will reach reproductive age.</div><div>We report a case of a 30-year-old woman in her second trimester of pregnancy who presents with ALCAPA, preserved ejection fraction (EF), and mild LV dilation. An uncommon feature, in this case, is the origin of the left main (LM) coronary artery from the posterior to the right of the main pulmonary artery (MPA), which is very close to the ascending aorta, mimicking the normal origin of the LM from the aortic root in 2D transthoracic echocardiography. The patient also has preserved left ventricular function with endocardial fibroelastosis. Echocardiography should be performed every 4 weeks to assess the progression of the disease during pregnancy.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142594160","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}
Noufel Alshadood , Ali Naser Aldarawsha , Sajjad Ghanim Al-Badri , Mohamed Samy Elazab , Manar Mohammed Mahdi , Flayyih Hasan Yousif , Asdah Alawad , Nabeel Al-Fatlawi , Abbas Hamza Abbas , Alaa Saeed AbdAli
{"title":"Adult-onset pancreatic neuroblastoma: A case report with a literature review","authors":"Noufel Alshadood , Ali Naser Aldarawsha , Sajjad Ghanim Al-Badri , Mohamed Samy Elazab , Manar Mohammed Mahdi , Flayyih Hasan Yousif , Asdah Alawad , Nabeel Al-Fatlawi , Abbas Hamza Abbas , Alaa Saeed AbdAli","doi":"10.1016/j.radcr.2024.10.066","DOIUrl":"10.1016/j.radcr.2024.10.066","url":null,"abstract":"<div><div>Neuroblastoma is an aggressive malignancy commonly found in children, with adult patients being quite rare. Pancreatic neuroblastoma, even among adult cases, is especially rare. We present a case of a 26-year-old woman presented with mild abdominal pain and a palpable mass diagnosed as neuroblastoma affecting the pancreas. After initial diagnostic challenges, a biopsy confirmed the diagnosis of neuroblastoma. The patient thereafter underwent a course of neoadjuvant chemotherapy, followed by a complex surgical resection. This case highlights the importance of a comprehensive diagnostic approach, including repeated biopsies and the involvement of a multidisciplinary team in the management of rare presentations of adult neuroblastoma.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142594154","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":"Thymic mass in an elderly male patient with myasthenia gravis: A rare presentation","authors":"Anshul Sood MBBS , Gaurav Vedprakash Mishra MBBS, MD , Shreya Khandelwal MBBS , Nishtha Manuja MBBS , Manasa Suryadevara MBBS","doi":"10.1016/j.radcr.2024.10.030","DOIUrl":"10.1016/j.radcr.2024.10.030","url":null,"abstract":"<div><div>Myasthenia gravis is an acquired neuromuscular disorder characterized by weakness of the extra-ocular muscles, which progresses to generalized weakness of the voluntary muscles and fatigability. The presented case is of a 70-year-old male patient who presented with complaints of drooping of bilateral eyelids and breathlessness and was diagnosed to have myasthenia gravis and thymic mass. It is uncommon for an elderly patient to present with thymic mass and myasthenia gravis concurrently.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142594161","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}