A peroxisomal biogenesis disorder that is in the continuum of Zellwegger (the most severe phenotype), Neonatal adrenoleukodystrophy (intermediate phenotype), and Infantile Refsum disease (least severe phenotype). Zellwegger presents with hypotonia and weakness from birth.
On imaging they have
1. Profound hypomyelination
2. Malformations of the cerebral cortex (Resembles polymicrogyria with increased number of gyri with decreased amplitude)
3. Subependymal germinolytic cysts near the foramina of Monro