Radiology Case Reports最新文献

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Multimodality imaging approach to identify hemodynamic significance of an anomalous papillary muscle insertion: A case report 多模态成像方法识别异常乳头肌插入的血流动力学意义:1例报告
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-01-12 DOI: 10.1016/j.radcr.2025.12.043
Som Singh MD , Omar Shaikh MD , Akshitha Yarrabothula MD , Simbo Chiadika MD
{"title":"Multimodality imaging approach to identify hemodynamic significance of an anomalous papillary muscle insertion: A case report","authors":"Som Singh MD ,&nbsp;Omar Shaikh MD ,&nbsp;Akshitha Yarrabothula MD ,&nbsp;Simbo Chiadika MD","doi":"10.1016/j.radcr.2025.12.043","DOIUrl":"10.1016/j.radcr.2025.12.043","url":null,"abstract":"<div><div>Anomalous papillary muscle insertion (APMI) has primarily been reported in the context of contributing to left ventricular outflow tract (LVOT) obstruction. However, there is a paucity of cases reporting APMI without LVOT obstruction. This case reports a 61-year-old female who presented with acute neurologic symptoms suggestive of cardioembolic stroke. Transthoracic and transesophageal echocardiography identified a mobile mass on the anterior mitral leaflet without significant valvular abnormality or LVOT obstruction. Cardiac MRI confirmed the diagnosis of APMI without dynamic obstruction and excluded thrombus or tumor. Given the lack of hemodynamic compromise, the patient was managed conservatively without surgical intervention or anticoagulation. This case highlights the utility of multimodality imaging in evaluating rare congenital cardiac anomalies. Cardiac MRI was essential in characterizing APMI and avoiding unnecessary surgical or pharmacologic intervention. The case adds to the limited literature on APMI without LVOT obstruction, particularly in the setting of stroke evaluation.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1375-1380"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145947938","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
Adult presentation of unilateral pulmonary venous atresia: CT findings in a rare congenital anomaly 单侧肺静脉闭锁的成人表现:罕见先天性异常的CT表现
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1016/j.radcr.2026.01.003
Juan Camilo Ricardo MD , Santiago Saavedra MD , Alvaro Daniel Pinto MD , María Alejandra Prada MD , Andres Felipe Mejía MD , Viviana Martínez MD , Aura Lucia Rivera MD
{"title":"Adult presentation of unilateral pulmonary venous atresia: CT findings in a rare congenital anomaly","authors":"Juan Camilo Ricardo MD ,&nbsp;Santiago Saavedra MD ,&nbsp;Alvaro Daniel Pinto MD ,&nbsp;María Alejandra Prada MD ,&nbsp;Andres Felipe Mejía MD ,&nbsp;Viviana Martínez MD ,&nbsp;Aura Lucia Rivera MD","doi":"10.1016/j.radcr.2026.01.003","DOIUrl":"10.1016/j.radcr.2026.01.003","url":null,"abstract":"<div><div>Pulmonary venous atresia (PVA) is a rare congenital anomaly of the pulmonary venous system, most commonly diagnosed in early childhood, with adult presentations being exceedingly uncommon. We report the case of a 43-year-old male who presented with progressive dyspnea in the context of a newly diagnosed laryngeal squamous cell carcinoma. Contrast-enhanced chest CT revealed complete right pulmonary venous atresia, associated right pulmonary artery hypoplasia, a right upper lobe pulmonary arteriovenous fistula, multiple mediastinal venous collaterals, and ipsilateral parenchymal changes. Pulmonary hypertension was subsequently confirmed by right heart catheterization. This case underscores the central role of CT in identifying unilateral PVA in adults, reviews the characteristic imaging features of this rare condition, and highlights the importance of including PVA in the differential diagnosis of unilateral pulmonary abnormalities.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1729-1733"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173964","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
Lentiform fork sign mimicking uremic encephalopathy in an atypical case of autoimmune limbic encephalitis 自身免疫性边缘脑炎非典型病例的慢形叉状征象模拟尿毒症脑病
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-06 DOI: 10.1016/j.radcr.2026.01.001
Chaimaa Jabbari MD, Ihssane Laasri MD, Aya Laridi MD, Meryem Fikri PhD, Najwa Ech-cherif Kettani PhD, Mohamed Jiddane PhD, Firdaous Touarsa PhD
{"title":"Lentiform fork sign mimicking uremic encephalopathy in an atypical case of autoimmune limbic encephalitis","authors":"Chaimaa Jabbari MD,&nbsp;Ihssane Laasri MD,&nbsp;Aya Laridi MD,&nbsp;Meryem Fikri PhD,&nbsp;Najwa Ech-cherif Kettani PhD,&nbsp;Mohamed Jiddane PhD,&nbsp;Firdaous Touarsa PhD","doi":"10.1016/j.radcr.2026.01.001","DOIUrl":"10.1016/j.radcr.2026.01.001","url":null,"abstract":"<div><div>The lentiform fork sign (LFS) on MRI is often associated with uremic encephalopathy but is not pathognomonic. We present a case of autoimmune limbic encephalitis initially suspected as uremic encephalopathy despite normal renal function. A 58-year-old woman presented with seizures and altered mental status. MRI showed bilateral basal ganglia hyperintensities with the classic LFS. Normal renal parameters prompted cerebrospinal fluid analysis, which revealed anti-NMDA receptor antibodies, confirming autoimmune encephalitis. The patient improved markedly after immunotherapy. This case emphasizes the need to consider autoimmune causes of LFS and the importance of early diagnosis and treatment in preventing adverse outcomes.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1741-1744"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174021","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
The owl’s eyes sign in spinal cord infarction: A rare presentation at the conus 脊髓梗塞的猫头鹰眼征:圆锥部罕见的表现。
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-01 DOI: 10.1016/j.radcr.2026.01.007
Chaimaa Jabbari MD, Boutaina Ouled Yahia MD, Aya Laridi MD, Ihssane Laasri MD, Ouijdane Zamani PhD, Meryem Edderai PhD
{"title":"The owl’s eyes sign in spinal cord infarction: A rare presentation at the conus","authors":"Chaimaa Jabbari MD,&nbsp;Boutaina Ouled Yahia MD,&nbsp;Aya Laridi MD,&nbsp;Ihssane Laasri MD,&nbsp;Ouijdane Zamani PhD,&nbsp;Meryem Edderai PhD","doi":"10.1016/j.radcr.2026.01.007","DOIUrl":"10.1016/j.radcr.2026.01.007","url":null,"abstract":"<div><div>Spinal cord infarction is an uncommon cause of acute myelopathy, particularly when involving the anterior spinal artery (ASA) territory. Early diagnosis is challenging due to its rarity and the overlap of symptoms with other acute spinal disorders. We report the case of a 55-year-old woman with no previous medical history who developed <em>sudden, severe dorsal pain</em> during routine household activities, followed within hours by <em>abrupt-onset paraplegia</em>. Spinal MRI demonstrated <em>T2 hyperintensity and restricted diffusion affecting the anterior horns</em>, creating the characteristic <em>“owl’s eye” sign</em>, consistent with acute ischemia of the ASA territory. No compressive lesion was identified. Further evaluation revealed <em>new-onset atrial fibrillation</em>, suggesting an embolic mechanism for the vascular occlusion. The clinical presentation and imaging findings were typical of anterior spinal cord infarction, which reflects the high metabolic vulnerability of the gray matter within the ASA distribution. Diffusion-weighted imaging played a key role in confirming the diagnosis and excluding alternative causes of acute myelopathy. This case emphasizes the importance of considering spinal cord infarction in patients presenting with sudden dorsal pain and rapid neurological decline. Early MRI evaluation and identification of underlying vascular risk factors such as atrial fibrillation are essential to guide timely management.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1654-1657"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167753","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
Double trouble in pregnancy: Complete hydatidiform mole coexisting with a live fetus and maternal crisis: A case report and comprehensive literature review 妊娠的双重困扰:完全葡萄胎与活胎并存,产妇危象:1例报告并综合文献复习。
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-02 DOI: 10.1016/j.radcr.2026.01.010
Shimalis Fayisa MD , Badri Ahmed MD , Fadil Abrar MD , Leul Adane Chemeda MD , Mahlet Alemayehu Mechessa MD
{"title":"Double trouble in pregnancy: Complete hydatidiform mole coexisting with a live fetus and maternal crisis: A case report and comprehensive literature review","authors":"Shimalis Fayisa MD ,&nbsp;Badri Ahmed MD ,&nbsp;Fadil Abrar MD ,&nbsp;Leul Adane Chemeda MD ,&nbsp;Mahlet Alemayehu Mechessa MD","doi":"10.1016/j.radcr.2026.01.010","DOIUrl":"10.1016/j.radcr.2026.01.010","url":null,"abstract":"<div><div>Complete hydatidiform mole with a coexisting live fetus (CHMCF) is an exceptionally rare, high-risk obstetric condition, most often seen in dichorionic twin pregnancies, with an estimated incidence of 1 in 20,000–100,000. Maternal complications frequently include vaginal bleeding, early-onset preeclampsia, thyrotoxicosis, and, occasionally, progression to gestational trophoblastic neoplasia (GTN). Fetal outcomes are unpredictable, ranging from spontaneous loss to live birth. We report a case of a 25-year-old gravida 3 para 2 at 24 + 2 weeks’ gestation presenting with vaginal bleeding. Ultrasound revealed a viable fetus with a normal placenta and amniotic fluid, alongside a separate multicystic intrauterine mass occupying the internal cervical os, consistent with a complete hydatidiform mole. During hospitalization, she developed worsening bleeding, preeclampsia, thyrotoxicosis, and intrauterine fetal demise. Elective hysterotomy was performed, and pathology confirmed an early third-trimester placenta with a separate complete mole. This case underscores the rapid maternal deterioration possible in CHMCF and highlights the importance of early recognition, intensive monitoring, and multidisciplinary individualized care. A brief review of the literature is included, summarizing maternal and fetal outcomes, diagnostic challenges, and management strategies.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1682-1687"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167472","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 Jaw out of joint: Uncovering a rare infectious dislocation of temporo-mandibular junction: A case report 下颌关节外:发现罕见的感染性颞下颌关节脱位:1例报告
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-01-30 DOI: 10.1016/j.radcr.2025.12.057
Nadia Mouna MD , Nawal Chyabri MD , Asmae Kasimi MD , Mostapha Yassine Tahouna MD , Mohamed Slimani MD , Hamid Ziani MD , Siham Nasri MD , Imane Kamaoui MD , Imane Skiker MD
{"title":"A Jaw out of joint: Uncovering a rare infectious dislocation of temporo-mandibular junction: A case report","authors":"Nadia Mouna MD ,&nbsp;Nawal Chyabri MD ,&nbsp;Asmae Kasimi MD ,&nbsp;Mostapha Yassine Tahouna MD ,&nbsp;Mohamed Slimani MD ,&nbsp;Hamid Ziani MD ,&nbsp;Siham Nasri MD ,&nbsp;Imane Kamaoui MD ,&nbsp;Imane Skiker MD","doi":"10.1016/j.radcr.2025.12.057","DOIUrl":"10.1016/j.radcr.2025.12.057","url":null,"abstract":"<div><div>Septic involvement of the temporomandibular joint (TMJ) resulting in dislocation is an exceptionally rare entity and is most often associated with contiguous spread from deep cervicofacial infections. Early recognition and coordinated multidisciplinary management are essential to avoid severe functional and infectious complications. We describe the case of a 48-year-old woman with a background of chronic otitis media who presented with progressive left-sided facial swelling, trismus, and local signs of inflammation. Laboratory investigations demonstrated marked inflammatory response. Contrast-enhanced computed tomography of the head and neck revealed a left parapharyngeal abscess with extension to the masticator space, complicated by dislocation of the left TMJ. The patient was treated with surgical drainage combined with broad-spectrum intravenous antibiotic therapy. Clinical outcome was favorable, with resolution of the infectious process and gradual recovery of mandibular mobility. Although rare, TMJ dislocation secondary to deep cervicofacial infection should be considered in patients presenting with facial swelling and trismus, particularly when imaging demonstrates deep neck space abscesses. Prompt imaging assessment and multidisciplinary care play a pivotal role in achieving optimal outcomes.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1629-1632"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146079274","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
Abdominal wall desmoid tumor postcesarean section: A case report 剖宫产术后腹壁硬纤维瘤1例
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-01-27 DOI: 10.1016/j.radcr.2025.12.050
Abdallah Said Abdallah MD , Mehdi Salmane MD , Chakir Mahfoud MD , Nezha Elbahaoui PhD , Fatima Zahrae Laamrani PhD , Youssef Omor PhD , Hafid Hachi PhD , Rachida Latib PhD , Sanae Amalik PhD
{"title":"Abdominal wall desmoid tumor postcesarean section: A case report","authors":"Abdallah Said Abdallah MD ,&nbsp;Mehdi Salmane MD ,&nbsp;Chakir Mahfoud MD ,&nbsp;Nezha Elbahaoui PhD ,&nbsp;Fatima Zahrae Laamrani PhD ,&nbsp;Youssef Omor PhD ,&nbsp;Hafid Hachi PhD ,&nbsp;Rachida Latib PhD ,&nbsp;Sanae Amalik PhD","doi":"10.1016/j.radcr.2025.12.050","DOIUrl":"10.1016/j.radcr.2025.12.050","url":null,"abstract":"<div><div>Desmoid-type fibromatosis (DTF) is a rare, locally aggressive myofibroblastic neoplasm. Abdominal wall occurrences are frequently associated with antecedent surgical trauma, such as Cesarean sections, and pregnancy-related hormonal factors. The diagnosis is challenging and requires differentiation from scar endometriosis. We report the case of a 35-year-old woman presenting with a painful infraumbilical mass 4 years after her last Cesarean section. Magnetic Resonance Imaging (MRI) suggested a desmoid tumor, characterized by T2 hypointensity and fascial infiltration. Percutaneous biopsy confirmed the diagnosis, revealing nuclear beta-catenin positivity and negative hormone receptors. Following multidisciplinary assessment and in accordance with the patient's preference, a conservative management strategy using nonsteroidal anti-inflammatory drugs (NSAIDs) was initiated, resulting in symptomatic relief. This case underscores the importance of MRI in the diagnostic workup and highlights the role of active surveillance and medical management as a viable first-line strategy for symptomatic abdominal wall DTF.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1582-1585"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146079270","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
Developmental venous anomaly related to de novo cerebral cavernous malformation: Imaging findings from two cases 与新生脑海绵状血管瘤相关的发育性静脉异常:两例影像学表现
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-01-12 DOI: 10.1016/j.radcr.2025.12.026
Sergio Gordillo Tovar MD , Andrés Felipe Parra MD
{"title":"Developmental venous anomaly related to de novo cerebral cavernous malformation: Imaging findings from two cases","authors":"Sergio Gordillo Tovar MD ,&nbsp;Andrés Felipe Parra MD","doi":"10.1016/j.radcr.2025.12.026","DOIUrl":"10.1016/j.radcr.2025.12.026","url":null,"abstract":"<div><div>The association between a developmental venous anomaly (DVA) and a cerebral cavernous malformation (CCM) is well-established. The development of a de novo CCM (dnCCM) adjacent to a preexisting DVA suggests that certain characteristics of the angioarchitecture of the DVA, in addition to genetic and molecular factors, play a critical role in its pathogenesis. We present the cases of two patients who were initially diagnosed with a DVA in different locations (left frontal and left occipital lobes) without evidence of a CCM in their initial imaging studies. During the follow-up, new lesions that were consistent with a dnCCM were identified adjacent to the DVA. One patient underwent surgical resection, and histopathology confirmed the CCM. Our findings support the postulate that the chronic hemodynamic alterations induced by the angioarchitecture of the DVA enable the formation of a dnCCM, as documented in the cases presented. These findings suggest that patients with a DVA who have hemodynamic risk factors may benefit from follow-up neuroimaging examinations. While our cases were monitored with standard MRI sequences, advanced techniques such as perfusion imaging might provide further insights into the hemodynamic mechanisms at play in future studies. Furthermore, we emphasize the need for longitudinal studies to establish a definitive causal relationship between DVA and dnCCM.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1386-1396"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145947943","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
Large renal arteriovenous fistula treated by embolization: 2 case reports 栓塞治疗肾大动静脉瘘2例
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1016/j.radcr.2026.01.029
Dang Luu Vu MD, PhD , Ngoc Duong Vu MD, MSc , Van Luong Tran MD, MSc , Dang Tan Do MD, MSc , Van Giang Tran MD, MSc , Duc Huy Tran MD, MSc , Duc Ngoc Tu MD, MSc , Hoang Khoe Le MD, MSc
{"title":"Large renal arteriovenous fistula treated by embolization: 2 case reports","authors":"Dang Luu Vu MD, PhD ,&nbsp;Ngoc Duong Vu MD, MSc ,&nbsp;Van Luong Tran MD, MSc ,&nbsp;Dang Tan Do MD, MSc ,&nbsp;Van Giang Tran MD, MSc ,&nbsp;Duc Huy Tran MD, MSc ,&nbsp;Duc Ngoc Tu MD, MSc ,&nbsp;Hoang Khoe Le MD, MSc","doi":"10.1016/j.radcr.2026.01.029","DOIUrl":"10.1016/j.radcr.2026.01.029","url":null,"abstract":"<div><div>Renal arteriovenous fistula (RAVF) is an infrequent vascular anomaly characterized by an aberrant connection between the renal artery and vein, potentially leading to significant clinical consequences. This condition may be congenital, acquired, or idiopathic and can manifest with symptoms such as hypertension, cardiac strain, renal impairment, or hematuria. Diagnostic imaging, including digital subtraction angiography (DSA) as the definitive standard, alongside noninvasive modalities like Doppler ultrasound and computed tomography (CT), plays a critical role in identifying and planning treatment for RAVF. While large fistulas have historically necessitated nephrectomy, endovascular embolization offers a minimally invasive alternative to mitigate hemodynamic complications and preserve renal function. This report details 2 cases of substantial RAVF treated successfully with endovascular techniques, demonstrating their efficacy as a primary intervention for complex fistulas, thereby reducing the need for surgical approaches.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1716-1721"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174019","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
Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report 独眼:面部畸形提示严重前脑全裂伴脑影像学表现:1例报告
Radiology Case Reports Pub Date : 2026-04-01 Epub Date: 2026-02-05 DOI: 10.1016/j.radcr.2025.12.059
Shiva Aryal MBBS , Bhumika Rimal MBBS , Sharma Paudel MD , Kundan Marasini MD
{"title":"Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report","authors":"Shiva Aryal MBBS ,&nbsp;Bhumika Rimal MBBS ,&nbsp;Sharma Paudel MD ,&nbsp;Kundan Marasini MD","doi":"10.1016/j.radcr.2025.12.059","DOIUrl":"10.1016/j.radcr.2025.12.059","url":null,"abstract":"<div><div>Holoprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis. Prenatal diagnosis is done by ultrasonography and can be supplemented by MRI. This case uniquely presents ultrasound and gross morphology correlation of cyclopia in a resource limited setting, and a correlation between facial features, intra-cranial anatomy, and lifespan. We report a 39-year-old gravida 3 para 2 woman with a history of alcohol consumption who presented for her first antenatal checkup at 19 weeks of gestation. Ultrasound revealed a single lateral ventricle with fused thalami, absent orbital structures, and a midline cystic protrusion (proboscis). After thorough counseling, pregnancy was terminated, and cyclopia was confirmed on gross inspection. Karyotyping and fetal echocardiography were not done due to parental preference. Alobar holoprosencephaly, the most severe subtype, is diagnosed by identification of single ventricle and associated facial anomalies. Lobar holoprosencephaly, however, requires coronal imaging to demonstrate absence of cavum septum pellucidum and fusion of frontal horns. The severity of facial anomalies correlates with underlying brain malformations. Chromosomal anomalies, maternal diabetes, infections, and teratogenic exposures like alcohol are known risk factors. Differential diagnoses include proboscis lateralis, midline encephaloceles and frontonasal dysplasia. This case highlights the prognostic significance of facial and brain anomalies and diagnostic utility of prenatal ultrasound in diagnosing holoprosencephaly underscoring the necessity of timely prenatal visits. Definitive genomic studies were not feasible, but maternal alcohol consumption can be considered as a possible risk factor.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"21 4","pages":"Pages 1706-1711"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174017","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
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