Yue Liu MD, Presenter: Nothing to Disclose

Chuankai Lv, Abstract Co-Author: Nothing to Disclose

Shuangfeng Yang, Abstract Co-Author: Nothing to Disclose

Yun Peng MD, Abstract Co-Author: Nothing to Disclose

Gaucher’s diseases(GD) are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. It has three classic variants based on the presence or absence of neurological manifestations and their rate of progression. Gaucher Type 1(GD1) is by far the most prevalent and is characterized by sparing of the central nervous system (CNS) from the primary effects of glycolipid accumulation. But about 35% of children had significant growth retardation. The aim of this study was to investigate evidence for metabolic changes and the correlation with clinical score in the central nervous system for type1 disease using in vivo MRS.

Twenty one (21) 5–16-year-old type1 GD children (13 boys and 8 girls with a mean age of 10.67±3.47 years).In the 21 cases,11case has clinical appearance, the severity scoring tool(SST) were from 3 to 25.5 and the mean score of 8.59±6.58, the remaining are zero score. The age and sex-matched healthy control group include 17 cases (8 boys and 9 girls, age from 5-16 years and mean age of 10±3.53years).All MRI and 1H-MRS measurements were performed using a Philips Achileva 3.0-T MR scanner. All the MRS raw data were evaluated using MRS processing functions on a Philips workstation. We analysed 6 centrally localized VOIs in cortex, subcortical white matter (WM) and WM within the 20 ×17 CSI matrix with a qualitative analysis of Choline(Cho), N-acetyl-aspartate(NAA), Creatine(Cr). Statistical analysis: SPSS13.0 for Windows was used for data analysis. The ratios including NAA/Cr, Cho/Cr, Cho/NAA in the two groups were compared by independent sample t tests. Relationships between MRS ratios and SST were determined by Pearson’s correlation coefficients controlling for age and gender. Statistical significance was accepted at p<0.05.

The MRSI-measurement protocol applied in this study was restricted to a small, homogeneous fraction of the brain We found no statistical differences between the healthy subjects and GD1 patients in any metabolite ratios. No significant correlation of metabolite ratios and SST was found in GD1 patients with neurological score (SST) (p >0.05).

MRS findings suggest that in patients with classical non-neuronopathic GD1, the brain is not involved at a subclinical level in children patients.

The study makes the foundation for the further study for brain metabolic change in GD1 childrens.

Liu, Y, Lv, C, Yang, S, Peng, Y, Brain MRS Change and Its Correlation with Neurological Appearance in Children Patients with Gaucher Disease Type 1.  Radiological Society of North America 2013 Scientific Assembly and Annual Meeting, December 1 - December 6, 2013 ,Chicago IL. http://archive.rsna.org/2013/13044135.html