Disease description
A hypomyelinating disorder caused by various mutations of the PLP1 gene at chromosome Xq22
On imaging their is increased T2 signal of the supratentorial white matter with high signal intensity on T1 only appearing in the internal capsule, optic radiations, and proximal corona radiata. Their is an increase in NAA, Cr, Glu, and myo-Inositol on MRS. An enlarged NAA peak is seen with PMD, but a normal NAA peak does not exclude it.