Introduction
The differential diagnosis of brain diseases becomes challenging in cases where imaging is not sufficiently informative, and surgical biopsy is impossible or unacceptable to the patient.
...Methods
An elderly patient with progressive short-term memory loss and cognitive impairment presented with a normal brain CT scan, a brain FDG-PET that indicated symmetrical deterioration of the white matter in the frontal lobes, and inconclusive results of a molecular marker analysis of suspected dementia in cerebrospinal fluid (CSF). Brain MRI suggested the diagnosis of lower grade glioma. The patient refused surgical biopsy. In order to investigate whether somatic mutations associated with gliomas existed, we performed a “liquid biopsy” by the targeted sequencing of cell-free DNA (cfDNA) from his CSF.
Results
Deep sequencing of the cfDNA from CSF revealed somatic mutations characteristically found in gliomas, including mutations of the TP53 (Arg282Trp), BRAF (Val600Glu), and IDH1 (Arg132His) genes. The patient is currently treated with temozolomide, and his clinical and MRI findings suggest the stabilization of his disease.
Conclusion
Neurological patients may benefit from liquid biopsy diagnostic work-up as it can reveal therapeutically targetable mutations.
Vascular lesions may be a common finding also in Alzheimer's dementia, but their role on cognitive status is uncertain.
The study aims to investigate their distribution in patients with Alzheimer's, ...vascular or mixed dementia and detect any distinctive neuroradiological profiles.
Seventy-six subjects received a diagnosis of Alzheimer's (AD=32), vascular (VD=26) and mixed (MD=18) dementia. Three independent raters assessed the brain images acquired with an optimized 3T MRI protocol (including (3D FLAIR, T1, SWI, and 2D coronal T2 sequences) using semiquantitative scales for vascular lesions (periventricular lesions (PVL), deep white matter lesions (DWML), deep grey matter lesions (DGML), enlarged perivascular spaces (PVS), and microbleeds (MB)) and brain atrophy (medial temporal atrophy (MTA), posterior atrophy (PA), global cortical atrophy- frontal (GCA-F) and Evans' index).
Raters reached a good-to-excellent agreement for all scales (ICC ranging from 0.78-0.96). A greater number of PVL (p<0.001), DWML (p<0.001), DGML (p=0.010), and PVS (p=0.001) was observed in VD compared to AD, while MD showed a significant greater number of PVL (p=0.001), DWML (p=0.002), DGML (p=0.018), and deep and juxtacortical MB (p=0.006 and p<0.001, respectively). Comparing VD and MD, VD showed a higher number of PVS in basal ganglia and centrum semiovale (p=0.040), while MD showed more deep and juxtacortical MB (p=0.042 and p=0.022, respectively). No significant difference was observed in scores of cortical atrophy scales and Evans' index among the three groups.
The proposed MRI protocol represents a useful advancement in the diagnostic assessment of patients with cognitive impairment by more accurately detecting vascular lesions, mainly microbleeds, without a significant increase in time and resource expenditure. Our findings confirm that white and grey matter lesions predominate in vascular and mixed dementia, whereas deep and juxtacortical microbleeds predominate in mixed dementia, suggesting that cerebral amyloid angiopathy could be the main underlying pathology.
To compare 3T elliptical-centric CE MRA with 3T TOF MRA for the detection and characterization of unruptured intracranial aneurysms (UIAs), by using digital subtracted angiography (DSA) as reference.
...Twenty-nine patients (12 male, 17 female; mean age: 62 years) with 41 aneurysms (34 saccular, 7 fusiform; mean diameter: 8.85mm range 2.0–26.4mm) were evaluated with MRA at 3T each underwent 3D TOF-MRA examination without contrast and then a 3D contrast-enhanced (CE-MRA) examination with 0.1mmol/kg bodyweight gadobenate dimeglumine and k-space elliptic mapping (Contrast ENhanced Timing Robust Angiography CENTRA). Both TOF and CE-MRA images were used to evaluate morphologic features that impact the risk of rupture and the selection of a treatment. Almost half (20/41) of UIAs were located in the internal carotid artery, 7 in the anterior communicating artery, 9 in the middle cerebral artery and 4 in the vertebro-basilar arterial system.
All patients also underwent DSA before or after the MR examination.
The CE-MRA results were in all cases consistent with the DSA dataset. No differences were noted between 3D TOF-MRA and CE-MRA concerning the detection and location of the 41 aneurysms or visualization of the parental artery. Differences were apparent concerning the visualization of morphologic features, especially for large aneurysms (>13mm). An irregular sac shape was demonstrated for 21 aneurysms on CE-MRA but only 13/21 aneurysms on 3D TOF-MRA. Likewise, CE-MRA permitted visualization of an aneurismal neck and calculation of the sac/neck ratio for all 34 aneurysms with a neck demonstrated at DSA. Conversely, a neck was visible for only 24/34 aneurysms at 3D TOF-MRA. 3D CE-MRA detected 15 aneurysms with branches originating from the sac and/or neck, whereas branches were recognized in only 12/15 aneurysms at 3D TOF-MRA.
For evaluation of intracranial aneurysms at 3T, 3D CE-MRA is superior to 3D TOF-MRA for assessment of sac shape, detection of aneurysmal neck, and visualization of branches originating from the sac or neck itself, if the size of the aneurysm is greater than 13mm. 3T 3D CE-MRA is as accurate and effective as DSA for the evaluation of UIAs.
Display omitted
•Contrast-enhanced MRI plays a central role in diagnosis of neurological diseases.•Previous crossover studies didn’t evaluate contrast agents in clinical practice.•Gadoteridol is ...safe with good image quality in a wide-range of CNS-pathologies.
To evaluate safety and diagnostic accuracy of gadoteridol vs. other macrocyclic gadolinium-based contrast agents (GBCAs) in a large cohort of consecutive and non-selected patients referred for CE-MRI of the CNS.
Between November 2017 and March 2018, we prospectively enrolled a consecutive cohort of patients referred for neuroradiological CE-MRI (1.5T MRI). Image quality and adverse events were assessed. Diagnostic performance was determined for a subgroup of patients with truth standard findings available. Comparison was made between patients receiving gadoteridol and patients receiving other macrocyclic GBCAs. Inter-reader agreement (kappa) between two expert neuroradiologists was calculated for the diagnosis of malignancy.
Overall, 460 patients (220M/240F; mean age 54±16 years) were enrolled of which 230 received gadoteridol (Group 1) and 230 either gadoteric acid or gadobutrol n=83 (36.1%) and n=147 (63.9%), respectively; Group 2. Image quality was rated as good or excellent in both groups. The sensitivity, specificity and diagnostic accuracy for determination of malignancy was 88.2%, 96.5% and 95.4%, respectively, for Group 1 and 93.7%, 97.4% and 96.9%, respectively, for Group 2, with no significant differences between groups (P>0.75) for any determination. Inter-reader agreement for the identification of malignancy was excellent K=0.877 (95%CI: 0.758–0.995) and K=0.818 (95%CI: 0.663–0.972) for groups 1 and 2, respectively; P=0.0913. Adverse events occurred in 5 of 460 (1.09%) patients overall, with no significant difference (P=0.972) between groups.
Gadoteridol was safe and guaranteed good image quality without significant differences when compared to gadobutrol and gadoteric acid in a wide range of CNS pathologies.
This article addresses questions that radiologists frequently ask when planning, performing, processing, and interpreting MRI perfusion studies in CNS imaging.
Perfusion MRI is a promising tool in ...assessing stroke, brain tumors, and neurodegenerative diseases. Most of the impediments that have limited the use of per-fusion MRI can be overcome to allow integration of these methods into modern neuroimaging protocols.
Hemiplegic migraine (HM) is a rare form of migraine withaura: the primary feature of HM is the presence of motor weak-ness as a manifestation of aura. The first three types of familialhemiplegic ...migraine account for most of the patients who havefamilial hemiplegic migraine: FHM1 is caused by mutations inthe CACNA1A gene, FHM2 is caused by mutations in theATP1A2 gene, and FHM3 is caused by mutations in theSCN1A gene. If one first- or second-degree relative has similarsymptoms, the disorder can be classified as familial (FHM),otherwise it is classified as sporadic (SHM, 1.2.3.2 in 2018ICHD classification). Some cases of SHM are caused by oneof the genetic mutations that produce FHM, due to either denovo mutations or inheritance from an asymptomatic parent.
PDF
