Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease

Abstract

We describe the MR spectroscopy findings in three patients with Pelizaeus-Merzbacker disease, a rare leukodystrophy associated with mutations of the PLP gene on chromosome X. The patients studied had different PLP gene mutations and presented different metabolic patterns, indicating a different phenotypic expression of mutations of the same gene.