Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
Journal
Pediatric Research
Journal Volume
60
Journal Issue
3
Pages
349-352
Date Issued
2006
Abstract
The primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain involvement in infantile-onset Pompe disease is not clear. In this study, brain development in five cases of infantile-onset Pompe disease, whose survivals have been prolonged by enzyme replacement therapy (ERT), were studied by brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). The results revealed delay in myelination milestones in all patients at a median age of 6 mo upon the initiation of treatment. After ERT, four of the five cases showed good progression in myelination, even though mild dilatation of the ventricles was still observed. In the case with no response to ERT in the muscles, however, brain myelination was slow and follow-up MRI and MRS studies suggested both neuron and myelination loss. Therefore, myelination defects are common in infantile-onset Pompe disease. Improvement in brain myelination could be seen in those who survive by effective treatment, although we do not know whether ERT does have a direct therapeutic effect on the brain. Copyright ? 2006 International Pediatric Research Foundation, Inc.
SDGs
Other Subjects
choline; creatine; glucan 1,4 alpha glucosidase; glycogen; inositol; n acetylaspartic acid; recombinant enzyme; recombinant glucan 1,4 alpha glucosidase; unclassified drug; article; brain development; capsula interna; clinical article; controlled study; corpus callosum; enzyme replacement; female; follow up; glycogen storage disease type 2; human; human cell; infant; infant disease; male; myelination; nuclear magnetic resonance imaging; nuclear magnetic resonance spectroscopy; onset age; peripheral blood mononuclear cell; priority journal; skin fibroblast; white matter; Brain; Child, Preschool; Female; Glucan 1,4-alpha-Glucosidase; Glycogen Storage Disease Type II; Humans; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male
Type
journal article