Assessment of Liver and Spleen in Children With Gaucher Disease Type 1 With Chemical Shift Imaging

Purpose The aim of this study was to assess of liver and spleen in children with Gaucher disease type 1 with chemical shift imaging. Methods Retrospective analysis was conducted on 36 untreated children with Gaucher disease type 1 and 15 age- and sex-matched control children who underwent chemical shift imaging of the abdomen. The hepatic and splenic fat fraction was calculated. The Pediatric Gaucher Severity Scoring System, hematologic parameters, and enzyme assay of the disease were calculated and correlated with hepatic and splenic fat fraction. Results The mean hepatic fat fraction in Gaucher disease was 14.1 +/- 3.1 (95% confidence interval [CI], 12.9-15.2) was significantly higher (P = 0.001) than that of control subjects 5.2 +/- 0.9 (95% CI, 4.7-5.7). The mean splenic fat fraction in Gaucher disease was 11.2 +/- 2.9 (95% CI, 11.2 +/- 2.9), and that of control was 4.5 +/- 0.9 (95% CI, 4.02-5.2). The thresholds of hepatic and splenic fat fraction used to differentiate patients from control subjects were 0.47 and 0.39 with areas under the curve of 0.947 and 0.999, respectively. The hepatic and splenic fat fraction is correlated with the Pediatric Gaucher Severity Scoring System (r = -0.523, -0.602), hemoglobin concentration (r = -0.491, -0.505), platelet count (r = -0.593, -0.24), beta-glucosidase (r = 0.519, 0.549), and chitotriosidase (r = -0.03, 0.267), respectively. Conclusions Hepatic and splenic fat fraction is a promising quantitative imaging parameter for detection and quantification of hepatic and splenic infiltration in children with Gaucher disease and correlated with clinical scoring, hematologic parameters, and enzyme assay of the disease.