Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic resonance imaging (MRI) findings are usually normal or non-specific. We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.

Pediatric astrocytic tumor grading: comparison between arterial spin labeling and dynamic susceptibility contrast MRI perfusion.

PURPOSE: The aim of this study was to compare arterial spin labeling (ASL) and dynamic susceptibility contrast (DSC) MRI perfusion with respect to diagnostic performance in tumor grading in pediatric patients with low- and high-grade astrocytic tumors (AT). METHODS: We retrospectively analyzed 37 children with histologically proven treatment naive low- and high-grade AT who underwent concomitant pre-operative ASL and DSC MRI perfusion. Studies were performed on a 1.5 T scanner, and a pulsed technique was used for ASL. DSC data were post-processed with a leakage correction software. Normalization of tumor perfusion parameters was performed with contralateral normal appearing gray matter. Normalized cerebral blood volume (nCBV) values in the most perfused area of each neoplasm were compared with normalized DSC-derived cerebral blood flow (nDSC-CBF) and ASL-derived cerebral blood flow (nASL-CBF) data, and correlated with WHO tumor grade. Statistics included Pearson's chi-square and Mann-Whitney U tests, Spearman's rank correlation, and receiver operating characteristic (ROC) analysis. RESULTS: A significant correlation was demonstrated between DSC and ASL data (p < 0.001). Significant differences in terms of DSC and ASL data were found between low- and high-grade AT (p < 0.001). ROC analysis demonstrated similar performances between all parameters in predicting tumor grade (nCBV: AUC 0.96, p < 0.001; nDSC-CBF: AUC 0.98, p < 0.001; nASL-CBF: AUC 0.96, p < 0.001). CONCLUSIONS: Normalized pulsed ASL performed with a 1.5 T scanner provides comparable results to DSC MRI perfusion in pediatric AT and may allow distinction between high- and low-grade AT.

Syrinx reduction due to spontaneous spinal cord tear: demonstration on 3 T MRI and review of the literature.

A holocord syringomyelia due to Chiari 1.5 malformation (CM) in a 12-year-old girl was serially imaged with 3 T MRI over 4 years. The serial MRI showed reduction in size of the syrinx, without any surgical intervention or CM improvement, but rather due to spontaneous spinal cord tear. The tear was clearly demonstrated by evidence of flow signal across the tear between syrinx and subarachnoid space at the upper thoracic level. The tear showed spontaneous closure at follow-up. A medullary tear has been described in the adult population as one of the putative causes of spontaneous syringomyelia reduction, but its clear demonstration with modern high-resolution MRI has not been reported in the paediatric population. Moreover, this is the first reported case of syrinx reduction due to spontaneous fissuration in a paediatric patient.