Pelizaeus-Merzbacher-Like Disease

A type of leukodystrophy

Genetics:

heterogeneous
Autosomal recessive,
Protein= gap junction protein 12 a.k.a. connexin 46.6 (Cx 46.6), a.k.a. connexin 47 (Cx 47),
Gene= GJA12 gene mutation

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

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