Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy

A four-year-old boy presented with moderate ataxia triggered by a minor head trauma several weeks ago. Discrepantly severe signal changes of cerebral white matter with almost CSF-isointense signal on all pulse sequences were detected at cranial MRI. Localized proton MR spectroscopy of cerebral white matter demonstrated an even decrease of all metabolites. Glycine was found elevated in CSF. This pattern of clinical history, MR imaging and spectroscopy features and elevated glycine in CSF is characteristic for a novel entity amongst the leukoenceplalopathies of childhood. It was originally termed myelinopathia centralis diffusa and renamed vanishing white matter disease later.