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Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy–Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst. [ABSTRACT FROM AUTHOR]

Purpose: This paper aims to analyze the contribution of mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) in the detection of microstructural abnormalities in amyotrophic lateral sclerosis (ALS) and to evaluate the degree of agreement between structural and functional changes through concomitant diffusion tensor imaging (DTI), transcranial magnetic stimulation (TMS), and clinical assessment.Methods: Fourteen patients with ALS and 11 healthy, age- and gender-matched controls were included. All participants underwent magnetic resonance imaging including DTI. TMS was additionally performed in ALS patients. Differences in the distribution of DTI-derived measures were assessed using tract-based spatial statistical (TBSS) and volume of interest (VOI) analyses. Correlations between clinical, imaging, and neurophysiological findings were also assessed through TBSS.Results: ALS patients showed a significant increase in AD and MD involving the corticospinal tract (CST) and the pre-frontal white matter in the right posterior limb of the internal capsule (p < 0.05) when compared to the control group using TBSS, confirmed by VOI analyses. VOI analyses also showed increased AD in the corpus callosum (p < 0.05) in ALS patients. Fractional anisotropy (FA) in the right CST correlated significantly with upper motor neuron (UMN) score (r = − 0.79, p < 0.05), and right abductor digiti minimi central motor conduction time was highly correlated with RD in the left posterior internal capsule (r = − 0.81, p < 0.05). No other significant correlation was found.Conclusion: MD, AD, and RD, besides FA, are able to further detect and characterize neurodegeneration in ALS. Furthermore, TMS and DTI appear to have a role as complementary diagnostic biomarkers of UMN dysfunction. [ABSTRACT FROM AUTHOR]

The central nervous system (CNS) undergoes constant immune surveillance enabled via regionally specialized mechanisms. These include selectively permissive barriers and modifications to interlinked innate and adaptive immune systems that detect and remove an inciting trigger. The end-points of brain injury and edema from these triggers are varied but often follow recognizable patterns due to shared underlying immune drivers. Imaging provides insights to understanding these patterns that often arise from unique interplays of infection, inflammation and genetics. We review the current updates in our understanding of these intersections and through examples of cases from our practice, highlight that infection and inflammation follow diverse yet convergent mechanisms that can challenge the CNS in children. [ABSTRACT FROM AUTHOR]

The fifth edition of the World Health Organization Classification of Tumours of the Central Nervous System (WHO CNS5) published in 2021 builds on the 2016 edition and incorporates output from the Consortium to Inform Molecular and Practical Approaches to CNS Tumour Taxonomy (cIMPACT-NOW). WHO CNS5 introduces fundamental changes to brain tumour classification through the introduction of new tumour families and types, especially in the paediatric population, and a revision of diagnostic criteria for some of the existing neoplasms. Neuroradiologists are central to brain tumour diagnostics, and it is therefore essential that they become familiar with the key updates. This review aims to summarise the most relevant updates for the neuroradiologist and, where available, discuss the known radiophenotypes of various new tumour types to allow for increased accuracy of language and diagnosis. Of particular importance, WHO CNS5 places greater emphasis on organising tumours by molecular type to reflect biology, as well as to allow for better planning of treatment. The principal updates in adult tumours concern the molecular definition of glioblastoma, restructuring of diffuse gliomas, and the introduction of several new tumour types. The updates to the paediatric classification are protean, ranging from the introduction of new types to establishing separate tumour families for paediatric-type gliomas. This review summarises the most significant revisions and captures the rationale and radiological implications for the major updates. [ABSTRACT FROM AUTHOR]

The article discusses the most common anomalies of central nervous system discovered by fetal magnetic resonance imaging. It determines whether there is an association between the type and distribution of the abnormalities detected on magnetic resonance imaging scan within the brain and the type and severity of Cerebral Palsy.

We employed a diffusion-tensor (DT) imaging technique involving a single-shot echo-planar sequence in combination with parallel imaging for tractography of the lower spinal cord and assessed the feasibility of this technique. Images were obtained at 1.5 T using a five-channel receiver coil. We used a single-shot echo-planar sequence with parallel imaging to acquire diffusion-weighted (DW) images in the axial plane with phase encoding in the right–left direction. A motion-probing gradient was applied in six directions with a b-value of 1,000 s/mm2. The scan time was 5 min 15 s. On a reconstructed DW image in the sagittal plane, the spinal cord was included in a single region-of-interest to generate a tractogram of the entire cord in seven volunteers and nine patients with spinal canal stenosis or vertebral metastasis. In each subject, although the conus medullaris and cauda equina were continuously visualized, the cord was demonstrated as a bundle of tracts color-coded in the z-axis. Nerve roots were depicted showing color-coding in the x- and y-axes. In the patient group, displacement of the cord was depicted showing changes in the color of the cord. Displacement of the proximal nerve roots was also depicted in the two patients with vertebral metastasis. DT imaging using parallel imaging shows potential as a method for routine tractography of the lower spinal cord. [ABSTRACT FROM AUTHOR]

Reversible focal lesions in the splenium of the corpus callosum (SCC) have recently been reported.They are circumscribed and located in the median aspect of the SCC. On MRI, they are hyperintense on T2-W and iso-hypointense on T1-W sequences, with no contrast enhancement. On DWI, SCC lesions are hyperintense with low ADC values, reflecting restricted diffusion due to cytotoxic edema. The common element is the disappearance of imaging abnormalities with time, including normalization of DWI. Clinical improvement is often reported. The most established and frequent causes of reversible focal lesions of the SCC are viral encephalitis, antiepileptic drug toxicity/withdrawal and hypoglycemic encephalopathy. Many other causes have been reported, including traumatic axonal injury. The similar clinical and imaging features suggest a common mechanism induced by different pathological events leading to the same results. Edema and diffusion restriction in focal reversible lesions of the SCC have been attributed to excitotoxic mechanisms that can result from different mechanisms; no unifying relationship has been found to explain all the pathologies associated with SCC lesions. In our opinion, the similar imaging, clinical and prognostic aspects of these lesions depend on a high vulnerability of the SCC to excitotoxic edema and are less dependent on the underlying pathology. In this review, the relevant literature concerning reversible focal lesions in the SCC is analyzed and hypotheses about their pathogenesis are proposed. [ABSTRACT FROM AUTHOR]

We report preliminary experience using single-voxel, proton MR spectroscopy (MRS) employing small voxels of interest, in combination with short and long echo-time protocols, for the assessment of primary intracranial tumors in children. We examined 23 children with primary intracranial tumors detected by MRI, and 32 controls with similar ages, using MRS on a 1.5 T system. Localized single-voxel (3.7±1.3 cc) proton spectra were obtained with short-echo (2,000/18), stimulated-echo (STEAM) and long-echo (2,000/270) spin-echo (PRESS) protocols. All spectra were evaluated qualitatively; 10 tumor and 19 control spectra were processed for peak area quantification. Small voxels of interest were able to account for tissue heterogeneity. Combined acquisition of short- and long-echo spectra increased the number of detectable metabolites. The solid portion of all tumors exhibited reduced N-acetyl-aspartate (NAA), strong contribution from cholines (Cho) and inositols or glycine, minimal presence of total creatine (tCr), enhanced broad mobile lipid resonances and accumulated lactate. Calculated selected metabolite ratios of Cho/tCr and Cho/NAA were substantially increased from control values. The cystic portions of the masses showed only lipid and lactate peaks. [ABSTRACT FROM AUTHOR]