Search Results (6)

Objective: Ventriculomegaly is the main prenatal imaging feature for diagnosing fetal central nervous system anomalies in humans. Many ventriculomegalies can be related to genetic causes, regardless of their imaging presentations. Among these, MPDZ variants have been reported to cause severe ventriculomegaly inherited in an autosomal recessive manner (OMIM#615219). Several hypotheses have been put forward linking MPDZ variants to ventriculomegaly, but the precise underlying mechanisms, in particular whether its origin is obstructive or non-obstructive, are yet to be elucidated. Methods: To address this question, we retrospectively analyzed pre- and postnatal neuro-imaging and neuropathological data for cases of ventriculomegaly in which MPDZ variants were found through exome or genome sequencing. We performed anti-MPDZ immunostaining on fetal brain samples. Results: We analyzed six cases (four fetuses and two children) of ventriculomegaly of variable severities with MPDZ variants. The precise analysis of brain MRI data, corroborated by fetopathological examinations, demonstrated an obstructive pattern of ventriculomegaly upstream from partial fusion of the thalami, also called diencephalosynapsis, with partial atresia of the third ventricle, which could extend to Sylvius’s aqueduct. Conclusions: The morphological analysis using targeted brain magnetic resonance imaging (MRI) and neuropathological data allowed us to unravel the underlying mechanisms of congenital ventriculomegaly related to MDPZ variants. Full article

Introduction: Neurodegenerative diseases like progressive supranuclear palsy (PSP) present challenges concerning their diagnosis. Neuroimaging using magnetic resonance (MRI) may add diagnostic value. However, modern techniques such as volumetric assessment using Voxel-Based Morphometry (VBM), although proven to be more accurate and superior compared to MRI, have not gained popularity among scientists in the investigation of neurological disorders due to their higher cost and time-consuming applications. Conventional brain MRI methods may present a quick, practical, and easy-to-use imaging rating tool for the differential diagnosis of PSP. The purpose of this study is to evaluate a string of existing visual MRI rating scales and signs regarding their impact for the diagnosis of PSP. Materials and Methods: The population study consisted of 30 patients suffering from PSP and 72 healthy controls. Each study participant underwent a brain MRI, which was subsequently examined by two independent researchers in a double-blinded fashion. Fifteen visual rating scales and signs were evaluated, including pontine atrophy, cerebellar atrophy, midbrain atrophy, aqueduct of Sylvius enlargement, cerebellar peduncle hyperintensities, enlargement of the fourth ventricle (100% sensitivity and 71% specificity) and left temporal lobe atrophy (97% sensitivity and 78% specificity). Conclusions: Enlargement of the Sylvius aqueduct, enlargement of the fourth ventricle and atrophy of both temporal lobes together with the presence of morning glory and hummingbird signs can be easily and quickly distinguished and identified by an experienced radiologist without involving any complex analysis, making them useful tools for PSP diagnosis. MRI visual scale measurements could be added to the diagnostic criteria of PSP and may serve as an alternative to highly technical and more sophisticated quantification methods. Full article

Background: CSF dynamics are disturbed in chronic hydrocephalus (NPH). We hypothesise that these alterations reflect a disturbance of intracranial compliance. The aim of our study is to investigate the variations in intracranial hydrodynamics in NPH after ventricular shunt surgery. Patients and method: We included 14 patients with definite NPH. All patients improved after ventriculoperitoneal shunting. The patients underwent an analysis of intracranial haemodynamics by phase-contrast MRI (pcMRI) preoperatively, at 6 months postoperatively, and at 1 year postoperatively. We analysed the dynamics of intraventricular CSF at the level of the aqueduct of Sylvius (SV_AQU) and CSF at the level of the high cervical subarachnoid spaces (SV_CERV). We calculated the ratio between SV_AQU and SV_CERV, called CSF_RATIO, which reflects the participation of intraventricular pulsatility in overall intracranial CSF pulsatility. Results: SV_AQU significantly (p = 0.003) decreased from 240 ± 114 μL/cc to 214 ± 157 μL/cc 6 months after shunt placement. Six months after shunt placement, SV_CERV significantly (p = 0.007) decreased from 627 ± 229 μL/cc to 557 ± 234 μL/cc. Twelve months after shunt placement, SV_CERV continued to significantly (p = 0.001) decrease to 496 ± 234 μL/cc. CSF_RATIO was not changed by surgery. Conclusions: CSF dynamics are altered by shunt placement and might be a useful marker of the shunt’s effectiveness—especially if pressure values start to rise again. The detection of changes in CSF dynamics would require a reference postoperative pcMRI measurement for each patient. Full article

Objective: To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem–occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated. Results: We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%. Conclusion: A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used. Full article

Aqueduct of Sylvius (AoS) cerebrospinal fluid flow can be quantified using phase-contrast (PC) Magnetic Resonance Imaging. The software used for AoS segmentation might affect the PC-derived measures. We analyzed AoS PC data of 30 people with multiple sclerosis and 19 normal controls using three software packages, and estimated cross-sectional area (CSA), average and highest AoS velocity (Vmean and Vmax), flow rate and volume. Our aims were to assess the repeatability and reproducibility of each PC-derived measure obtained with the various software packages, including in terms of group differentiation. All the variables had good repeatability, except the average Vmean, flow rate and volume obtained with one software package. Substantial to perfect agreement was seen when evaluating the overlap between the AoS segmentations obtained with different software packages. No variable was significantly different between software packages, with the exception of Vmean diastolic peak and CSA. Vmax diastolic peak differentiated groups, regardless of the software package. In conclusion, a clinical study should preliminarily evaluate the repeatability in order to interpret its findings. Vmax seemed to be a repeatable and reproducible measure, since the pixel with its value is usually located in the center of the AoS, and is thus unlikely be affected by ROI size. Full article

The cerebrospinal fluid (CSF) pulse in the Aqueduct of Sylvius (aCSF pulse) is often used to evaluate structural changes in the brain. Here we present a novel application of the general linear model (GLM) to predict the motion of the aCSF pulse. MR venography was performed on 13 healthy adults (9 female and 4 males—mean age = 33.2 years). Flow data was acquired from the arterial, venous and CSF vessels in the neck (C2/C3 level) and from the AoS. Regression analysis was undertaken to predict the motion of the aCSF pulse using the cervical flow rates as predictor variables. The relative contribution of these variables to predicting aCSF flow rate was assessed using a relative weights method, coupled with an ANOVA. Analysis revealed that the aCSF pulse could be accurately predicted (mean (SD) adjusted r² = 0.794 (0.184)) using the GLM (p < 0.01). Venous flow rate in the neck was the strongest predictor of aCSF pulse (p = 0.001). In healthy individuals, the motion of the aCSF pulse can be predicted using the GLM. This indicates that the intracranial fluidic system has broadly linear characteristics. Venous flow in the neck is the strongest predictor of the aCSF pulse. Full article