AJNR. American journal of neuroradiology最新文献

{"title":"Automated Detection of Normal Pressure Hydrocephalus Using CT Imaging for Calculating the Ventricle-to-Subarachnoid Volume Ratio.","authors":"Jacob J Knittel, Justin L Hoskin, Dylan J Hoyt, Jonathan A Abdo, Emily L Foldes, Molly M McElvogue, Clay M Oliver, Daniel A Keesler, Terry D Fife, F David Barranco, Kris A Smith, J Gordon McComb, Matthew T Borzage, Kevin S King","doi":"10.3174/ajnr.A8451","DOIUrl":"https://doi.org/10.3174/ajnr.A8451","url":null,"abstract":"<p><strong>Background and purpose: </strong>Normal pressure hydrocephalus (NPH) is a diagnostic challenge because its clinical symptoms and imaging appearance resemble normal aging and other forms of dementia. Identifying NPH is essential so that patients can receive timely treatment to improve gait distortion and quality of life. An automated marker of NPH was developed and evaluated on clinical CT images, and its utility was assessed in a large patient cohort.</p><p><strong>Materials and methods: </strong>A retrospective review was conducted of CT images from 306 tap test-responsive patients with NPH between January 2015 and January 2022. Control CT images were obtained from patients in the emergency department who were evaluated for headache and had unremarkable CT findings between June 2021 and August 2022. The ventricle-to-subarachnoid volume ratio (VSR) was automatically calculated by the imaging software and used as a predictor of NPH in linear regression modeling with adjustment for age and sex. The correlations of VSR with age, sex, and the receiver operating characteristic were computed.</p><p><strong>Results: </strong>VSR was significantly greater in patients with NPH than controls (<i>P</i> < .001). Importantly, VSR was not significantly correlated with age (<i>P</i> = .56, <i>R²</i> = 0.001). VSR identifies NPH with a sensitivity and specificity of 94.1% and 92.5%, respectively, with an area under the receiver operating characteristic curve of 0.99 (95% CI 0.975-0.995).</p><p><strong>Conclusions: </strong>Automated assessment of the VSR on head CT images identified probable NPH with 93% accuracy. The assessment of a large cohort of patients with NPH supports the generalizability of clinical screening of CT images. Moreover, the results support the utility of ventricle-to-sulcal concordance often used by radiologists but not currently a part of the accepted guidelines for imaging markers of NPH.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923960","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}

{"title":"Alzheimer Disease Anti-Amyloid Immunotherapies: Imaging Recommendations and Practice Considerations for Monitoring of Amyloid-Related Imaging Abnormalities.","authors":"Petrice M Cogswell, Trevor J Andrews, Jerome A Barakos, Frederik Barkhof, Suzie Bash, Marc Daniel Benayoun, Gloria C Chiang, Ana M Franceschi, Clifford R Jack, Jay J Pillai, Tina Young Poussaint, Cyrus A Raji, Vijay K Ramanan, Jody Tanabe, Lawrence Tanenbaum, Christopher T Whitlow, Fang F Yu, Greg Zaharchuk, Michael Zeinah, Tammie S Benzinger","doi":"10.3174/ajnr.A8469","DOIUrl":"10.3174/ajnr.A8469","url":null,"abstract":"<p><p>With full FDA approval and Centers for Medicare & Medicaid Services coverage of lecanemab and donanemab, a growing number of practices are offering anti-amyloid immunotherapy to appropriate patients with cognitive impairment or mild dementia due to amyloid-positive Alzheimer disease. The goal of this article is to provide updated practical considerations for radiologists, including implementation of MR imaging protocols, workflows, and reporting and communication practices relevant to anti-amyloid immunotherapy and monitoring for amyloid-related imaging abnormalities (ARIA). On the basis of consensus discussion within an expanded American Society of Neuroradiology (ASNR) Alzheimer, ARIA, and Dementia Study Group, our purpose is the following: 1) summarize the FDA guidelines for the evaluation of radiographic ARIA; 2) review the 3 key MRI sequences for ARIA monitoring and standardized imaging protocols on the basis of ASNR-industry collaborations; 3) provide imaging recommendations for 3 key patient scenarios; 4) highlight the role of the radiologist in the care team for this population; 5) discuss implementation of MRI protocols to detect ARIA in diverse practice settings; and 6) present the results of the 2023 ASNR international neuroradiologist practice survey on dementia and ARIA imaging.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142047642","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}

{"title":"Quantification of Collateral Supply with Local-AIF Dynamic Susceptibility Contrast MRI Predicts Infarct Growth.","authors":"Mira M Liu, Niloufar Saadat, Steven P Roth, Marek A Niekrasz, Mihai Giurcanu, Timothy J Carroll, Gregory A Christoforidis","doi":"10.3174/ajnr.A8441","DOIUrl":"10.3174/ajnr.A8441","url":null,"abstract":"<p><strong>Background and purpose: </strong>In ischemic stroke, leptomeningeal collaterals can provide delayed and dispersed compensatory blood flow to tissue-at-risk despite an occlusion and can impact treatment response and infarct growth. The purpose of this work is to test the hypothesis that the inclusion of this delayed and dispersed flow with an appropriately calculated local arterial input function (local-AIF) is needed to quantify the degree of collateral blood supply in tissue distal to an occlusion.</p><p><strong>Materials and methods: </strong>Seven experiments were conducted in a preclinical middle cerebral artery occlusion model. Dynamic susceptibility contrast MRI was imaged and postprocessed to yield quantitative cerebral blood flow (qCBF) maps with both a traditionally chosen single arterial input function applied globally to the whole brain (ie, \"global-AIF\") and a delay and dispersion corrected AIF (ie, \"local-AIF\") that is sensitive to retrograde flow. Leptomeningeal collateral arterial recruitment was quantified with a pial collateral score from x-ray angiograms, and infarct growth was calculated from serially acquired diffusion-weighted MRI scans.</p><p><strong>Results: </strong>The degree of collateralization at x-ray correlated more strongly with local-AIF qCBF in the ischemic penumbra (R² = 0.81) than with traditional global-AIF qCBF (R² = 0.05). Local-AIF qCBF was negatively correlated with infarct growth (slower infarct progression with higher perfusion, R² = 0.79) more strongly than global-AIF qCBF (R² = 0.02).</p><p><strong>Conclusions: </strong>In acute stroke, qCBF calculated with a local-AIF is more accurate for assessing tissue status and collateral supply than traditionally chosen global-AIFs. These findings support the use of a local-AIF that corrects for delayed and dispersed retrograde flow in determining quantitative tissue perfusion with collateral supply in occlusive disease.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972428","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}

{"title":"Predicting Post-Operative Side Effects in VIM MRgFUS Based on THalamus Optimized Multi Atlas Segmentation (THOMAS) on White-Matter-Nulled MRI: A Retrospective Study.","authors":"Sonoko Oshima, Asher Kim, Xiaonan R Sun, Ziad Rifi, Katy A Cross, Katherine A Fu, Noriko Salamon, Benjamin M Ellingson, Ausaf A Bari, Jingwen Yao","doi":"10.3174/ajnr.A8448","DOIUrl":"https://doi.org/10.3174/ajnr.A8448","url":null,"abstract":"<p><strong>Background and purpose: </strong>Precise and individualized targeting of the ventral intermediate thalamic nucleus for the MR-guided focused ultrasound is crucial for enhancing treatment efficacy and avoiding undesirable side effects. In this study, we tested the hypothesis that the spatial relationships between Thalamus Optimized Multi Atlas Segmentation derived segmentations and the post-focused ultrasound lesion can predict post-operative side effects in patients treated with MR-guided focused ultrasound.</p><p><strong>Materials and methods: </strong>We retrospectively analyzed 30 patients (essential tremor, n = 26; tremor-dominant Parkinson's disease, n = 4) who underwent unilateral ventral intermediate thalamic nucleus focused ultrasound treatment. We created ROIs of coordinate-based indirect treatment target, focused ultrasound-induced lesion, and thalamus and ventral intermediate thalamic nucleus segmentations. We extracted imaging features including 1) focused ultrasound-induced lesion volumes, 2) overlap between lesions and thalamus and ventral intermediate thalamic nucleus segmentations, 3) distance between lesions and ventral intermediate thalamic nucleus segmentation and 4) distance between lesions and the indirect standard target. These imaging features were compared between patients with and without post-operative gait/balance side effects using Wilcoxon rank-sum test. Multivariate prediction models of side effects based on the imaging features were evaluated using the receiver operating characteristic analyses.</p><p><strong>Results: </strong>Patients with self-reported gait/balance side effects had a significantly larger extent of focused ultrasound-induced edema, a smaller fraction of the lesion within the ventral intermediate thalamic nucleus segmentation, a larger fraction of the off-target lesion outside the thalamus segmentation, a more inferior centroid of the lesion from the ventral intermediate thalamic nucleus segmentation, and a larger distance between the centroid of the lesion and ventral intermediate thalamic nucleus segmentation (<i>p</i> < 0.05). Similar results were found for exam-based side effects. Multivariate regression models based on the imaging features achieved areas under the curve of 0.99 (95% CI: 0.88 to 1.00) and 0.96 (95% CI: 0.73 to 1.00) for predicting self-reported and exam-based side effects, respectively.</p><p><strong>Conclusions: </strong>Thalamus Optimized Multi Atlas Segmentation-based patient-specific segmentation of the ventral intermediate thalamic nucleus can predict post-operative side effects, which has implications for aiding the direct targeting of MR-guided focused ultrasound and reducing side effects.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899871","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}

{"title":"Reply.","authors":"Benjamin M Ellingson, Francesco Sanvito, Whitney B Pope, Timothy F Cloughesy, Raymond Y Huang, Javier E Villanueva-Meyer, Daniel P Barboriak, Lalitha K Shankar, Marion Smits, Timothy J Kaufmann, Jerrold L Boxerman, Michael Weller, Evanthia Galanis, John de Groot, Susan M Chang, Mark R Gilbert, Andrew B Lassman, Mark S Shiroishi, Ali Nabavizadeh, Minesh Mehta, Roger Stupp, Wolfgang Wick, David A Reardon, Patrick Y Wen, Michael A Vogelbaum, Martin van den Bent","doi":"10.3174/ajnr.A8621","DOIUrl":"10.3174/ajnr.A8621","url":null,"abstract":"","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900626","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}

{"title":"Comparing CT-like bone images based on FRACTURE MR with CT in pediatric congenital vertebral anomalies.","authors":"Hirva N Manek, Foram B Gala","doi":"10.3174/ajnr.A8639","DOIUrl":"https://doi.org/10.3174/ajnr.A8639","url":null,"abstract":"<p><strong>Background and purpose: </strong>Congenital vertebral anomalies are commonly associated with underlying spinal cord anomaly which necessitates imaging both the spinal cord and the bony vertebral column to understand the extent of the deformity better. While MRI is the gold standard for spinal cord imaging, it does not provide CT-like bone details. Many MR bone imaging techniques have been tested in various adult spine conditions in the past decade but not much has been described on their reliability in pediatric spine. We elaborate on our experience with Fast field echo resembling a CT using restricted echo spacing (FRACTURE) MR bone imaging in congenital vertebral anomalies in children.</p><p><strong>Materials and methods: </strong>11 pediatric patients referred to the imaging department for CT and MR study of congenital vertebral anomaly were prospectively included. After receiving informed consent from these patient's guardians, both studies were performed in a single setting and under a single sedation. FRACTURE MR was accelerated using the compressed SENSE technique to reduce the imaging time. We then compared FRACTURE MR and CT images for image quality and studied parameters like formation or segmentation anomalies, anomalous shape of vertebrae, and alignment deformities.</p><p><strong>Results: </strong>FRACTURE MR showed acceptable image quality with diagnostically limiting artifacts in only 1 patient. The inter-reader agreement was perfect in the assessment of vertebral body segmentation or formation anomaly and alignment abnormalities, and it was substantial for posterior element anomalies. The bone signal was lower in children under the age of 3 years of age due to a more immature and cartilaginous skeleton.</p><p><strong>Conclusions: </strong>FRACTURE MR provides images of acceptable quality in pediatric spinal anomalies. The addition of this novel sequence can be complementary to conventional MR in providing osseous details and CT can be reserved for certain specific indications like post operative cases. This can help in reducing the radiation dose to this group of pediatric patients who will be serially followed up with imaging during their management.</p><p><strong>Abbreviations: </strong>FRACTURE - Fats field echo resembling a CT using restricted echo spacing, CS - Compressed SENSE, KF - Klippel Feil, GRE - Gradient echo, UTE - Ultrashort Time to echo, ZTE - Zero Time to echo, CNR - Contrast-to-noise ratio, SNR - Signal-tonoise ratio, MSK -Musculoskeletal.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901075","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}

{"title":"Diagnostic Performance of ASL-MRI and FDG-PET in Frontotemporal Dementia: A Systematic Review and Meta-Analysis.","authors":"Richard Dagher, Parisa Arjmand, Burak Berksu Ozkara, Mahla Radmard, Mona Gad, Ali Sheikhy, Max Wintermark, Vivek Yedavalli, Haris I Sair, Licia P Luna","doi":"10.3174/ajnr.A8440","DOIUrl":"10.3174/ajnr.A8440","url":null,"abstract":"<p><strong>Background: </strong>While the diagnosis of frontotemporal dementia (FTD) is based mostly on clinical features, [¹⁸F]-FDG-PET has been investigated as a potential imaging standard in ambiguous cases, with arterial spin-labeling (ASL) MRI gaining recent interest.</p><p><strong>Purpose: </strong>The purpose of this study is to conduct a systematic review and meta-analysis on the diagnostic performance of ASL MRI in patients with FTD and compare it with that of [¹⁸F]-FDG-PET.</p><p><strong>Data sources: </strong>A systematic search of PubMed, Scopus, and Embase was conducted until March 13, 2024.</p><p><strong>Study selection: </strong>Inclusion criteria were original articles, patients with FTD and/or its variants, use of ASL MR perfusion imaging with or without [¹⁸F]-FDG-PET, and presence of sufficient diagnostic performance data. Exclusion criteria were meeting abstracts, comments, summaries, protocols, letters and guidelines, longitudinal studies, and overlapping cohorts.</p><p><strong>Data analysis: </strong>The quality of eligible studies was assessed by using the Quality Assessment of Diagnostic Accuracy Studies-2. Pooled sensitivity, specificity, and diagnostic odds ratio (DOR) for [¹⁸F]-FDG-PET and ASL MRI were calculated, and a summary receiver operating characteristic curve was plotted.</p><p><strong>Data synthesis: </strong>Seven eligible studies were identified, which included a total of 102 patients with FTD. Aside from some of the studies showing, at worst, an unclear risk of bias in patient selection, index test, flow, and timing, all studies showed low risk of bias and applicability concerns in all categories. Data from 4 studies were included in our meta-analysis for ASL MRI and 3 studies for [¹⁸F]-FDG-PET. Pooled sensitivity, specificity, and DOR were 0.70 (95% CI: 0.59-0.79), 0.81 (95% CI: 0.71-0.88), and 8.00 (95% CI: 3.74-17.13) for ASL MRI and 0.88 (95% CI: 0.71-0.96), 0.89 (95% CI: 0.43-0.99), and 47.18 (95% CI: 10.77-206.75) for [¹⁸F]-FDG-PET.</p><p><strong>Limitations: </strong>The number of studies was relatively small, with a small sample size. The studies used different scanning protocols as well as a mix of diagnostic metrics, all of which might have introduced heterogeneity in the data.</p><p><strong>Conclusions: </strong>While ASL MRI performed worse than [¹⁸F]-FDG-PET in the diagnosis of FTD, it exhibited a decent diagnostic performance to justify its further investigation as a quicker and more convenient alternative.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972423","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}

{"title":"Cognitive Control Network and Language Reorganization in Patients with Brain Tumors.","authors":"Luca Pasquini, Antonio Napolitano, Leonardo Spitoni, Maurizio Schmid, Francesco Dellepiane, Mehrnaz Jenabi, Kyung K Peck, Andrei I Holodny","doi":"10.3174/ajnr.A8638","DOIUrl":"https://doi.org/10.3174/ajnr.A8638","url":null,"abstract":"<p><strong>Background and purpose: </strong>The interaction between language and other cognitive networks in patients harboring brain tumors is poorly understood. We studied the modification of the cognitive control network (CCN) induced by brain tumors and its participation in language reorganization. We hypothesized that patients with brain tumors and reorganized language would show modification of the CCN compared to patients who remain left dominant.</p><p><strong>Materials and methods: </strong>Patients were selected with the criteria: newly diagnosed, pathologically-confirmed left hemispheric tumor; single lesions; right handedness; task-based and resting-state fMRI; no artifacts. Age-matched healthy controls (HC) were recruited from open sources databases. Language laterality was calculated using task-based fMRI. We obtained the CCN through ad hoc independent component analysis on resting-state fMRI. Difference in CCN between patients and HC were characterized through cosine similarity (CS) and earth mover's distance (EMD). Changes related to language reorganization and patients' speech were assessed with t-test (p<0.05). Results were corrected for multiple comparisons.</p><p><strong>Results: </strong>142 right handed patients (35 low grade, 88 high grade glioma; 19 metastases) and 184 HC were included. Two independent components of the CCN were obtained. T-test confirmed significant effects of lateralization on the CCN (p=0.004). Modification of CCN was associated with less speech deficits 1 week after surgery (p=0.005).</p><p><strong>Conclusions: </strong>This study provides evidence that modifications of CCN occur in the setting of language reorganization. Patients exhibiting these modifications perform better at speech evaluation after surgery, suggesting a role of cognitive control in compensating for speech deficits when language reorganizes.</p><p><strong>Abbreviations: </strong>AD = atypical dominant; CCN = cognitive control network; CS = cosine similarity; EMD = earth mover's distance; fMRI = functional magnetic resonance imaging; GIG-ICA = group-information guided ICA; HGG = high-grade glioma; LD = left dominant; LGG = low-grade glioma; LI= laterality index; ROI = region of interest; RSNs = resting state networks.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901073","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}

{"title":"Considerations on the Application of RANO 2.0 Criteria in Clinical Practice.","authors":"Torcato Meira","doi":"10.3174/ajnr.A8563","DOIUrl":"https://doi.org/10.3174/ajnr.A8563","url":null,"abstract":"","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899374","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}

{"title":"Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.","authors":"Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D'Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D'Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti, Anna Pichiecchio","doi":"10.3174/ajnr.A8450","DOIUrl":"10.3174/ajnr.A8450","url":null,"abstract":"<p><strong>Background and purpose: </strong>Cerebellar heterotopia (CH) is a neuroradiologic abnormality that is poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and syndromic conditions. This study aims to provide a comprehensive neuroradiologic, clinical, and genetic characterization of a cohort of pediatric patients with CH.</p><p><strong>Materials and methods: </strong>Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the 4 Italian centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic, and neuroradiologic data was collected.</p><p><strong>Results: </strong>Thirty-two pediatric patients were recruited and subdivided into 2 groups: patients with isolated CH and/or cerebellar malformations (<i>n</i> = 18) and patients with CH associated with cerebral malformations (<i>n</i> = 14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and the inferior portion of the cerebellar hemispheres. The remaining 4 patients of the second group showed either bilateral or unilateral CH, located in both the peripheral cortex and deep white matter and the superior and inferior portions of cerebellum. Patients with isolated CH showed a high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.</p><p><strong>Conclusions: </strong>We found distinctive neuroradiologic patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphologic and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.</p>","PeriodicalId":93863,"journal":{"name":"AJNR. American journal of neuroradiology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482795","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}