Diagnosis:
A type of leukodystrophy
Genetics:
X-linked recessive disease, Gene: PLP1 gene, rearrangements or mutations. Protein= proteolipid protein 1
Clinical features:
First months of life: impaired motor development and nystagmus
Later on: ataxia, dystonia, dysarthria, and progressive spasticity
Spastic paraplegia: childhood onset, progressive and may occur without other features
Findings on investigations:
MRI: hypomyelination pattern,
- T2 or FLAIR diffuse hyperintensity in cerebral hemispheric white matter.
- T1+gadolinium: poor or no enhancement