Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

摘要: Abstract Background Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but unmasked central nervous system (CNS) changes. Methods Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2–38 months. Most had baseline neuroimaging prior to the initiation ERT. Follow-up eight. Results Sixteen (70%) abnormalities ventricular enlargement (VE) extra-axial cerebrospinal fluid accumulation (EACSF) at baseline, delayed myelination two. (n = 8) after 6–153 months showed marked improvement, normalization VE and EACSF seven patients. Two three imaged age 10 years demonstrated white matter changes, one noted have a basilar artery aneurysm. Conclusions Mild brain untreated or newly treated tend resolve time, conjunction However, changes are emerging as seen Patients 1 3 which included abnormal periventricular subtle signal basal ganglia minimal, symmetric involving deep frontoparietal cerebral matter, respectively. The role part clinical evaluation needs be considered assess for aneurysms.