Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III.
BACKGROUND
The aim of this work is to assess the usefulness of apparent diffusion coefficient (ADC) value of the brain for diagnosis of patients with Gaucher's disease type II and type III.


METHODS
Prospective study was conducted upon 13 patients (nine boys and four girls aged 8 months-14 years: mean 6.1 years) with Gaucher's disease type II and III and for age-matched control group (n = 13). Diffusion-weighted magnetic resonance imaging using a single-shot echo-planar imaging with a diffusion-weighted factor b of 0, 500, and 1,000 s/mm(2) was done for all patients and volunteers. The ADC value was calculated in ten regions of the brain parenchyma and correlated with genotyping.


RESULTS
There was significantly lower ADC value of the cortical frontal (P = 0.003), cortical temporal (P = 0.04), frontal subcortical white matter (P = 0.02), corticospinal tract (P = 0.001), cerebellum (P = 0.001), medulla (P = 0.002), and midbrain (P = 0.02) between patients and volunteers. There was significant difference in the ADC value of the frontal and temporal gray matter (P = 0.04 and 0.05, respectively) between patients with heterozygous and homozygous gene mutation.


CONCLUSIONS
We concluded that ADC value is a new promising quantitative imaging parameter that can be used for the detection of brain abnormalities in patients with Gaucher's disease type II and type III and has a correlation with genotyping.
Abdel Razek
Ahmed Abdel Khalek
AA
Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, Egypt. arazek@mans.eun.eg
Abd El-Gaber
Nahed
N
Abdalla
Ahmed
A
Fathy
Abeer
A
Azab
Ahmed
A
Rahman
Ashraf Abdel
AA
D000293:Adolescent; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D005962:Glucosylceramidase / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011446:Prospective Studies
D005962:Glucosylceramidase