CEREBRAL DIFFUSION TENSOR IMAGES IN INFANTS AND NEONATES WITH INFANTILE ONSET POMPE DISEASE

Abstract

Background: Exogenous enzyme cannot cross the blood brain barrier to eliminate accumulated glycogen and brain involvement by Pompe disease is worth of attention before starting enzyme-replacement therapy. Material And Methods: Before treatment, we recruited 10 infantile-onset Pompe patients and divided them into 2 groups. Group A (n = 6) had truncal hypotonia, while group B (n = 4) did not. The control group included another 10 age-matched subjects. The maps of first (EV1), second (EV2), and third eigenvalues (EV3), trace apparent diffusion coefficient, and fractional anisotropy (FA) were generated. We compared regions of interest in the right cerebellar peduncle, central pons, posterior limb of the right internal capsule, right thalamus, right superior corona radiata near the level of the lateral ventricular bodies, and genu and splenium of the corpus callosum between the Pompe patients and control subjects. Results: On diffusion tensor images (DTIs), we found increased EV3 at the central pons (0.570 ± 0.116 versus 0.434 ± 0.154, p = 0.03) and genu of the corpus callosum (0.707 ± 0.181 versus. 0.447 ± 0.184, p = 0.03) in group A, but not in group B, as compared with age-matched controls. EV2 (0.961 ± 0.241 versus. 0.755 ± 0.138, p = 0.04) increased significantly but FA (0.485 ± 0.125 versus. 0.716 ± 0.121, p = 0.03) decreased significantly at the splenium of the corpus callosum of group A patients both not in group B. Conclusion: In our Pompe patients younger than nine months, DTIs could not disclose significant changes of diffusion indices at the supratentorial white matters in group B patients without truncal hypotonia. Further progressive hypomyelination of supertentorial white matter may be prevented with adequate and early enzyme replacement treatment applied to infant-onset Pompe patients.