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OBJECTIVE: The study aims at comparing the diagnostic accuracy of qualitative and quantitative assessment of the susceptibility in the precentral gyrus in detecting amyotrophic lateral sclerosis (ALS) with predominance of upper motor neuron (UMN) impairment. METHODS: We retrospectively collected clinical and 3T MRI data of 47 ALS patients, of whom 12 with UMN predominance (UMN-ALS). We further enrolled 23 healthy controls (HC) and 15 ALS Mimics (ALS-Mim). The Motor Cortex Susceptibility (MCS) score was qualitatively assessed on the susceptibility-weighted images (SWI) and automatic metrics were extracted from the quantitative susceptibility mapping (QSM) in the precentral gyrus. MCS scores and QSM-based metrics were tested for correlation, and ROC analyses. RESULTS: The correlation of MCS score and susceptibility skewness was significant (Rho = 0.55, p < 0.001). The susceptibility SD showed an AUC of 0.809 with a specificity and positive predictive value of 100% in differentiating ALS and ALS Mim versus HC, significantly higher than MCS (Z = -3.384, p-value = 0.00071). The susceptibility skewness value of -0.017 showed specificity of 92.3% and predictive positive value of 91.7% in differentiating UMN-ALS versus ALS mimics, even if the performance was not significantly better than MCS (Z = 0.81, p = 0.21). CONCLUSION: The MCS and susceptibility skewness of the precentral gyrus show high diagnostic accuracy in differentiating UMN-ALS from ALS-mimics subjects. The quantitative assessment might be preferred being an automatic measure unbiased by the reader. CLINICAL RELEVANCE STATEMENT: The clinical diagnostic evaluation of ALS patients might benefit from the qualitative and/or quantitative assessment of the susceptibility in the precentral gyrus as imaging marker of upper motor neuron predominance. KEY POINTS: ⢠Amyotrophic lateral sclerosis diagnostic work-up lacks biomarkers able to identify upper motor neuron involvement. ⢠Susceptibility-weighted imaging/quantitative susceptibility mapping-based measures showed good diagnostic accuracy in discriminating amyotrophic lateral sclerosis with predominant upper motor neuron impairment from patients with suspected motor neuron disorder. ⢠Susceptibility-weighted imaging/quantitative susceptibility mapping-based assessment of the magnetic susceptibility provides a diagnostic marker for amyotrophic lateral sclerosis with upper motor neuron predominance.
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Esclerosis Amiotrófica Lateral , Corteza Motora , Enfermedad de la Neurona Motora , Humanos , Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Corteza Motora/diagnóstico por imagen , Estudios Retrospectivos , Neuronas Motoras , Enfermedad de la Neurona Motora/diagnóstico por imagen , Imagen por Resonancia Magnética/métodosRESUMEN
OBJECTIVES: To test whether quantitative susceptibility mapping (QSM) of cerebral cavernous malformations (CCMs) assessed at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up. METHODS: Familial CCM patients were enrolled in the longitudinal multicentre study Treat-CCM. The 3-T MRI scan allowed performing a semi-automatic segmentation of CCMs and computing the maximum susceptibility in each segmented CCM (QSMmax) at baseline. CCMs were classified as haemorrhagic and non-haemorrhagic at baseline and then subclassified according to the 1-year (t1) evolution. Between-group differences were tested, and the diagnostic accuracy of QSMmax in predicting the presence or absence of haemorrhagic signs in CCMs was calculated with ROC analyses. RESULTS: Thirty-three patients were included in the analysis, and a total of 1126 CCMs were segmented. QSMmax was higher in haemorrhagic CCMs than in non-haemorrhagic CCMs (p < 0.001). In haemorrhagic CCMs at baseline, the accuracy of QSMmax in differentiating CCMs that were still haemorrhagic from CCMs that recovered from haemorrhage at t1 calculated as area under the curve (AUC) was 0.78 with sensitivity 62.69%, specificity 82.35%, positive predictive value (PPV) 93.3% and negative predictive value (NPV) 35.9% (QSMmax cut-off ≥ 1462.95 ppb). In non-haemorrhagic CCMs at baseline, AUC was 0.91 in differentiating CCMs that bled at t1 from stable CCMs with sensitivity 100%, specificity 81.9%, PPV 5.1%, and NPV 100% (QSMmax cut-off ≥ 776.29 ppb). CONCLUSIONS: The QSMmax in CCMs at baseline showed high accuracy in predicting the presence or absence of haemorrhagic signs at 1-year follow-up. Further effort is required to test the role of QSM in follow-up assessment and therapeutic trials in multicentre CCM studies. KEY POINTS: ⢠QSM in semi-automatically segmented CCM was feasible. ⢠The maximum magnetic susceptibility in a single CCM at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up. ⢠Multicentric studies are needed to enforce the role of QSM in predicting the CCMs' haemorrhagic evolution in patients affected by familial and sporadic forms.
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Hemangioma Cavernoso del Sistema Nervioso Central , Humanos , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Proyectos Piloto , Imagen por Resonancia MagnéticaRESUMEN
PURPOSE: To (1) identify a radiological parameter to predict non-functioning pituitary tumor (NFPT) consistency, (2) examine the relationship between NFPT consistency and extent of resection (EOR), (3) investigate if tumor consistency predictors can anticipate EOR. METHODS: The ratio (T2SIR) between the T2 min signal intensity (SI) of the tumor and the T2 mean SI of the CSF was the main radiological parameter, being determined through a radiomic-voxel analysis and calculated using the following formula: T2SIR = [(T2 tumor mean SI - SD)/T2 CSF SI]. The tumor consistency was pathologically estimated as collagen percentage (CP). EOR of NFPTs was evaluated by exploiting a volumetric technique and its relationship with the following explanatory variables was explored: CP, Knosp-grade, tumor volume, inter-carotid distance, sphenoidal sinus morphology, Hardy-grade, suprasellar tumor extension. RESULTS: A statistically significant inverse correlation between T2SIR and CP was demonstrated (p = 0.0001), with high diagnostic power of T2SIR in predicting NFPT consistency (ROC curve analysis' AUC = 0.88; p = 0.0001). The following predictors of EOR were identified in the univariate analysis: CP (p = 0.007), preoperative volume (p = 0.045), Knosp grade (p = 0.0001), tumor suprasellar extension (p = 0.044). The multivariate analysis demonstrated two variables as unique predictors of EOR: CP (p = 0.002) and Knosp grade (p = 0.001). The T2SIR was a significant predictor of EOR both in the univariate (p = 0.01) and multivariate model (p = 0.003). CONCLUSION: This study offers the potential to improve NFPT preoperative surgical planning and patient counseling by employing the T2SIR as a preoperative predictor of tumor consistency and EOR. Meanwhile, tumor consistency and Knosp grade were found to play an important role in predicting EOR.
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Adenoma , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/patología , Imagen por Resonancia Magnética , Adenoma/cirugía , Procedimientos Neuroquirúrgicos/métodos , Carga Tumoral , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive low-grade neoplasms of the posterior pituitary gland. GCT usually present as a solid sellar mass, slowly growing and causing compressive symptoms over time, occasionally with suprasellar extension. They comprise polygonal monomorphous cells with abundant granular cytoplasm, which is ultrastructurally filled with lysosomes. Here we report the case of a GCT presenting as a third ventricle mass, radiologically mimicking chordoid glioma, with aberrant expression of GFAP and Annexin-A, which lends itself as an example of an integrated diagnostic approach to sellar/suprasellar and third ventricle masses.
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Neoplasias del Ventrículo Cerebral , Craneofaringioma , Glioma , Tumor de Células Granulares , Neurohipófisis , Neoplasias Hipofisarias , Tercer Ventrículo , Humanos , Neurohipófisis/metabolismo , Neurohipófisis/patología , Tercer Ventrículo/diagnóstico por imagen , Tercer Ventrículo/patología , Tumor de Células Granulares/diagnóstico por imagen , Tumor de Células Granulares/patología , Neoplasias del Ventrículo Cerebral/diagnóstico por imagen , Neoplasias del Ventrículo Cerebral/patología , Neoplasias Hipofisarias/diagnóstico por imagen , Glioma/patologíaRESUMEN
OBJECTIVES: The aim of our study was to investigate whether the magnetic susceptibility varies according to the amyotrophic lateral sclerosis (ALS) phenotypes based on the predominance of upper motor neuron (UMN)/lower motor neuron (LMN) impairment. METHODS: We retrospectively collected imaging and clinical data of 47 ALS patients (12 with UMN predominance (UMN-ALS), 16 with LMN predominance (LMN-ALS), and 19 with no clinically defined predominance (Np-ALS)). We further enrolled 23 healthy controls (HC) and 15 ALS mimics (ALS-Mim). These participants underwent brain 3-T magnetic resonance imaging (3-T MRI) with T1-weighted and gradient-echo multi-echo sequences. Automatic segmentation and quantitative susceptibility mapping (QSM) were performed. The skewness of the susceptibility values in the precentral cortex (SuscSKEW) was automatically computed, compared among the groups, and correlated to the clinical variables. RESULTS: The Kruskal-Wallis test showed significant differences in terms of SuscSKEW among groups (χ2(3) = 24.2, p < 0.001), and pairwise tests showed that SuscSKEW was higher in UMN-ALS compared to those in LMN-ALS (p < 0.001), HC (p < 0.001), Np-ALS (p = 0.012), and ALS-Mim (p < 0.001). SuscSKEW was highly correlated with the Penn UMN score (Spearman's rho 0.612, p < 0.001). CONCLUSION: This study demonstrates that the clinical ALS phenotypes based on UMN/LMN sign predominance significantly differ in terms of magnetic susceptibility properties of the precentral cortex. Combined MRI-histopathology investigations are strongly encouraged to confirm whether this evidence is due to iron overload in UMN-ALS, unlike in LMN-ALS. KEY POINTS: ⢠Magnetic susceptibility in the precentral cortex reflects the prevalence of UMN/LMN impairment in the clinical ALS phenotypes. ⢠The degree of UMN/LMN impairment might be well described by the automatically derived measure of SuscSKEW in the precentral cortex. ⢠Increased SuscSKEW in the precentral cortex is more relevant in UMN-ALS patients compared to those in Np-ALS and LMN-ALS patients.
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Esclerosis Amiotrófica Lateral , Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Neuronas Motoras , Fenotipo , Estudios RetrospectivosRESUMEN
BACKGROUND: Elderly bipolar disorder (BD) and behavioural variant of frontotemporal dementia (bvFTD) may exhibit similar symptoms and both disorders are characterized by selective abnormalities in cortical and subcortical regions that are associated with cognitive and emotional impairments. We aimed to investigate common and distinct neural substrates of BD and bvFTD by coupling, for the first time, magnetic resonance imaging (MRI) and positron emission tomography (PET) techniques. METHODS: 3-Tesla MRI and 18 fluorodeoxyglucose-PET scans were acquired for 16 elderly BD patients, 23 bvFTD patients with mild cognitive impairments and 68 healthy controls (48 for PET and 20 for MRI analyses). RESULTS: BD and bvFTD patients exhibit a different localization of grey matter reductions in the lateral prefrontal cortex, with the first group showing grey matter decrease in the ventrolateral prefrontal cortex and the latter group showing grey matter reductions in the dorsolateral prefrontal cortex as well as unique grey matter and metabolic alterations within the orbitofrontal cortex. The bvFTD group also displayed unique volumetric shrinkage in regions within the temporo-parietal network together with greater metabolic impairments within the temporal cortex and more extensive volumetric and metabolic abnormalities within the limbic lobe. Finally, while the BD group showed greater grey matter volumes in caudate nucleus, bvFTD subjects displayed lower metabolism. CONCLUSION: This MRI-PET study explored, for the first time to the best of our knowledge, structural and functional abnormalities in bvFTD and elderly BD patients, with the final aim of identifying the specific biological signature of these disorders, which might have important implications not only in prevention but also in differential diagnosis and treatment.
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Envejecimiento , Trastorno Bipolar , Corteza Cerebral , Demencia Frontotemporal , Sustancia Gris , Imagen por Resonancia Magnética , Red Nerviosa , Tomografía de Emisión de Positrones , Anciano , Envejecimiento/metabolismo , Envejecimiento/patología , Trastorno Bipolar/diagnóstico por imagen , Trastorno Bipolar/metabolismo , Trastorno Bipolar/patología , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/metabolismo , Corteza Cerebral/patología , Femenino , Demencia Frontotemporal/diagnóstico por imagen , Demencia Frontotemporal/metabolismo , Demencia Frontotemporal/patología , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/metabolismo , Sustancia Gris/patología , Humanos , Masculino , Imagen Multimodal , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/metabolismo , Red Nerviosa/patologíaRESUMEN
Diabetic ketoacidosis (DKA) is a serious complication in children with diabetes mellitus type 1 (DM1). In rare and severe cases DKA may be complicated by cerebral edema, central brain herniation and cerebral infarctions. We present the magnetic resonance imaging findings in a child with DKA and central nervous system involvement; diffusion tensor imaging (DTI) and functional MRI (fMRI) were performed to assess the white matter integrity of sensory pathways and cortical sensory processing. Conventional imaging showed bilateral uncal herniation, effacement of the perimesencephalic cisterns, wide ischemic lesions in the posterior cerebral artery (PCA) territories, sagging brainstem and Duret's hemorrhage consistent with signs of central brain herniation and intracranial hypertension. Advanced MRI showed a possible left-sided cortical reorganization for sensory function, with underlying left cortico-talamic and cortico-spinal pathways less severely impaired. Knowledge of the full framework in these conditions is of vital importance for timely patient management; advanced neuroimaging techniques may be considered as prognostic indicators in those cases with extensive involvement of eloquent brain areas.
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PURPOSE: This multicentric study aims to characterize and assess the occurrence of neuroradiological findings among patients with SARS-CoV-2 infection during the first Italian wave of the pandemic outbreak. MATERIALS AND METHODS: Patients' data were collected between May 2020 and June 2020. Clinical and laboratory data, chest imaging, brain CT, and MRI imaging were included. Acquired data were centralized and analyzed in two hospitals: ASST Spedali Civili, Brescia, and IRRCS San Raffaele Research Hospital, Milan, Italy. COVID-19 patients were classified into two different subgroups, vascular and nonvascular. The vascular pattern was further divided into ischemic and hemorrhagic stroke groups. RESULTS: Four hundred and fifteen patients from 20 different Italian Centers were enrolled in the study. The most frequent symptom was focal neurological deficit, found in 143 patients (34.5%). The most frequent neuroradiological finding was ischemic stroke in 122 (29.4%) patients. Forty-four (10.6%) patients presented a cerebral hemorrhage. Forty-seven patients had non-stroke neuroimaging lesions (11.3%). The most common was PRES-like syndrome (28%), SWI hypointensities (22%), and encephalitis (19%). The stroke group had higher CAD risk (37.5% vs 20%, p = .016) and higher D-dimer levels (1875 ng/mL vs 451 ng/mL, p < .001) compared to the negative group. CONCLUSION: Our study describes the biggest cohort study in Italy on brain imaging of COVID-19 patients and confirms that COVID-19 patients are at risk of strokes, possibly due to a pro-thrombotic microenvironment. Moreover, apart from stroke, the other neuroradiological patterns described align with the ones reported worldwide.
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Fetal Magnetic Resonance Imaging (MRI) is an important noninvasive diagnostic tool to characterize the central nervous system (CNS) development, significantly contributing to pregnancy management. In clinical practice, fetal MRI of the brain includes the acquisition of fast anatomical sequences over different planes on which several biometric measurements are manually extracted. Recently, modern toolkits use the acquired two-dimensional (2D) images to reconstruct a Super-Resolution (SR) isotropic volume of the brain, enabling three-dimensional (3D) analysis of the fetal CNS.We analyzed 17 fetal MR exams performed in the second trimester, including orthogonal T2-weighted (T2w) Turbo Spin Echo (TSE) and balanced Fast Field Echo (b-FFE) sequences. For each subject and type of sequence, three distinct high-resolution volumes were reconstructed via NiftyMIC, MIALSRTK, and SVRTK toolkits. Fifteen biometric measurements were assessed both on the acquired 2D images and SR reconstructed volumes, and compared using Passing-Bablok regression, Bland-Altman plot analysis, and statistical tests.Results indicate that NiftyMIC and MIALSRTK provide reliable SR reconstructed volumes, suitable for biometric assessments. NiftyMIC also improves the operator intraclass correlation coefficient on the quantitative biometric measures with respect to the acquired 2D images. In addition, TSE sequences lead to more robust fetal brain reconstructions against intensity artifacts compared to b-FFE sequences, despite the latter exhibiting more defined anatomical details.Our findings strengthen the adoption of automatic toolkits for fetal brain reconstructions to perform biometry evaluations of fetal brain development over common clinical MR at an early pregnancy stage.
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Imagenología Tridimensional , Imagen por Resonancia Magnética , Femenino , Humanos , Embarazo , Segundo Trimestre del Embarazo , Imagenología Tridimensional/métodos , Reproducibilidad de los Resultados , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagenRESUMEN
Background: Although endovascular treatment of ruptured intracranial aneurysms is well-established, some critical issues have not yet been clarified, such as the effects of timing on safety and effectiveness of the procedure. The aim of our study was to analyze the incidence of intra-procedural complications according to the timing of treatment, as they can affect morbidity and mortality. Materials and methods: We retrospectively analyzed all patients who underwent endovascular treatment for ruptured intracranial aneurysms at three high flow center. For all patients, imaging and clinical data, aneurysm's type, mean dimension and different treatment techniques were analyzed. Intra-procedural complications were defined as thrombus formation at the aneurysm's neck, thromboembolic events, and rupture of the aneurysm. Patients were divided into three groups according to time between subarachnoid hemorrhage and treatment (<12 h hyper-early, 12-36 h early, and >36 h delayed). Results: The final study population included 215 patients. In total, 84 patients (39%) underwent hyper-early, 104 (48%) early, and 27 (13%) delayed endovascular treatment. Overall, 69% of the patients were treated with simple coiling, 23% with balloon-assisted coiling, 1% with stent-assisted coiling, 3% with a flow-diverter stent, 3% with an intrasaccular flow disruptor device, and 0.5% with parent vessel occlusion. Delayed endovascular treatment was associated with an increased risk of total intra-procedural complications compared to both hyper-early (p = 0.009) and early (p = 0.004) treatments with a rate of complications of 56% (vs. 29% in hyper-early and 26% in early treated group-p = 0.011 and p = 0.008). The delayed treatment group showed a higher rate of thrombus formation and thromboembolic events. The increased risk of total intra-procedural complications in delayed treatment was confirmed, also considering only the patients treated with simple coiling and balloon-assisted coiling (p = 0.005 and p = 0.003, respectively, compared to hyper-early and early group) with a rate of complications of 62% (vs. 28% in hyper-early and 26% in early treatments-p = 0.007 and p = 0.003). Also in this subpopulation, delayed treated patients showed a higher incidence of thrombus formation and thromboembolic events. Conclusions: Endovascular treatment of ruptured intracranial aneurysms more than 36 h after SAH seems to be associated with a higher risk of intra-procedural complications, especially thrombotic and thromboembolic events.
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BACKGROUND: Superficial white matter (SWM) alterations correlated with cognitive decline have been described in Alzheimer's disease (AD). OBJECTIVE: The study aims to extend the investigation of the SWM alterations to AD and non-AD neurodegenerative dementia (ND) and explore the relationship with cerebrospinal fluid (CSF) biomarkers and clinical data. METHODS: From a database of 323 suspected dementia cases, we retrospectively recruited 55 ND with abnormal amyloid-ß42 (AD) and 38 ND with normal amyloid-ß42 (non-AD) and collected clinical data, CSF biomarkers, and magnetic resonance images. Ten healthy controls (HC) were recruited for imaging and Mini-Mental State Examination (MMSE). Diffusion tensor imaging (DTI) measurements were performed in the lobar SWM regions and Kruskal Wallis tests were used for among-group comparison. Spearman's correlation tests were performed between DTI measures, CSF biomarkers, and clinical data. RESULTS: AD and non-AD showed significant differences in the DTI measures across the SWM compared to HC. Significant differences between AD and non-AD were detected in the left parietal lobe. DTI measures correlated with amyloid-ß42 and MMSE diffusely in the SWM, less extensively with total-tau and phosphorylated tau, and with disease duration in the parietal lobe bilaterally. CONCLUSION: Widespread SWM alterations occur in both AD and non-AD ND and AD shows appreciably more severe alterations in the parietal SWM. Notably, the alterations in the SWM are strongly linked not only to the cognitive decline but also to the diagnostic CSF biomarkers. Further studies are encouraged to evaluate the DTI measures in the SWM as in vivo non-invasive biomarkers in the preclinical phase.
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Enfermedad de Alzheimer/patología , Biomarcadores/líquido cefalorraquídeo , Disfunción Cognitiva/patología , Imagen de Difusión Tensora , Sustancia Blanca/patología , Anciano , Enfermedad de Alzheimer/psicología , Péptidos beta-Amiloides/líquido cefalorraquídeo , Femenino , Humanos , Masculino , Pruebas de Estado Mental y Demencia , Persona de Mediana Edad , Fragmentos de Péptidos/líquido cefalorraquídeo , Fosforilación , Estudios Retrospectivos , Proteínas tau/líquido cefalorraquídeoRESUMEN
There are no clear guidelines about the treatment Pial Arteriovenous Fistulae (PAVF). For high-risk and severally symptomatic fistulae surgery is the first choice of treatment, including feeding artery ligation, surgical resection, radiosurgery and endovascular embolization techniques. We described a case of a patient with a symptomatic PAVF at the craniocervical junction fed by the anterior spinal artery, successfully treated with endovascular approach consisting of glue embolization of the feeding vessel.
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Fístula Arteriovenosa , Embolización Terapéutica , Procedimientos Endovasculares , Arterias , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/terapia , Humanos , Resultado del TratamientoRESUMEN
PURPOSE: The aim of the study is to quantify the susceptibility in deep grey nuclei that are affected by pathological processes related to iron accumulation in patients with Parkinson's disease and primary atypical parkinsonisms such as Progressive Supranuclear Palsy, Multiple System Atrophy and Cortico-Basal Degeneration, in order to assist the differential diagnosis among parkinsonian syndromes. METHODS: We enrolled 49 patients with Parkinson's disease and 26 patients with primary atypical parkinsonisms. Automatic segmentation of putamen, globus pallidus, caudate nucleus and thalamus and manual segmentation of red nuclei and substantia nigra were performed, and region of interest-based Quantitative Susceptibility Mapping analysis were performed. Statistical comparisons of the mean susceptibility values in the segmented brain regions were performed among primary atypical parkinsonisms and Parkinson's disease. RESULTS: Susceptibility values in red nuclei were increased in Progressive Supranuclear Palsy patients compared to parkinsonian phenotype Multiple System Atrophy (p = 0.004), and Parkinson's disease patients (p = 0.006). Susceptibility in thalamus was decreased in Cortico-Basal Degeneration patients compared to Parkinson's disease (p = 0.006), Multiple System Atrophy with cerebellar phenotype (p = 0.031) and parkinsonian phenotype (p = 0.001) patients, and in Progressive Supranuclear Palsy patients compared to Multiple System Atrophy with parkinsonian phenotype patients (p = 0.012). CONCLUSIONS: Quantitative Susceptibility Mapping allows the depiction and quantification of different patterns of iron deposition in the deep gray nuclei occurring in primary atypical parkinsonisms and Parkinson's disease and it may help as a non-invasive tool in the differential diagnosis between parkinsonian syndromes.
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Atrofia de Múltiples Sistemas , Trastornos Parkinsonianos , Parálisis Supranuclear Progresiva , Sustancia Gris/diagnóstico por imagen , Humanos , Hierro , Imagen por Resonancia Magnética , Atrofia de Múltiples Sistemas/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagenRESUMEN
White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatment (n = 5, median age at MRI = 7.4 years, median period of treatment = 85 months) that showed the classic features of extensive supratentorial WM abnormalities but also unusual findings such as early infratentorial WM abnormalities and late supratentorial U-fiber involvement. Given the recent implementation of ERT and the rarity of the disease, a complete spectrum of presentation and understanding of progressive pathology in the brain of IOPD subjects in treatment remains underacknowledged. The availability of long-term follow-up of IOPD subjects under ERT treatment allows a better insight into the evolution of brain abnormalities in such disease.
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Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity. This article focuses on the imaging findings of the holoprosencephaly spectrum and septo-optic dysplasia, their epidemiology, embryology, and the common clinical associated anomalies. Knowledge of the imaging features of these disorders is necessary for a correct interpretation of findings and accurate parental counseling. Diagnostic evaluation of patients should include molecular screening and genetic counseling to characterize prognosis and risk of recurrence.
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Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Holoprosencefalia/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , HumanosRESUMEN
Magnetic resonance imaging (MRI) is a well-established imaging modality which is used in all districts of the musculoskeletal and peripheral nerve systems. More recently, initial studies have applied multiparametric MRI to evaluate quantitatively different aspects of musculoskeletal and peripheral nerve diseases, thus providing not only images but also numbers and clinical data. Besides 1H and 31P magnetic resonance spectroscopy, diffusion-weighted imaging (DWI) and blood oxygenation level-dependent imaging, diffusion tensor imaging (DTI) is a relatively new MRI-based technique relying on principles of DWI, which has traditionally been used mainly for evaluating the central nervous system to track fibre course. In the musculoskeletal and peripheral nerve systems, DTI has been mostly used in experimental settings, with still few indications in clinical practice. In this review, we describe the potential use of DTI to evaluate different musculoskeletal and peripheral nerve conditions, emphasising the translational aspects of this technique from the experimental to the clinical setting.