Through prenatal screening a fetus affected with MLD was detected. The pregnancy was terminated and the brain removed at autopsy. Pathologic studies of the CNS showed inclusion bodies within oligodendroglia. The morphology of myelin was normal. Cells and myelin were isolated from the cerebrum; there was an increased level of sulfatide present in both fractions. In vitro studies of enzyme replacement in cultured MLD brain cells indicated that it may be possible to correct the abnormal sulfatide accumulation.
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Clinical Neurology
- Cellular and Molecular Neuroscience