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)
On imaging MRI's may be normal. Most patients have a progressive loss of normal white matter signal (starting in sensorimotor pathways from brain stem to cerebral cortex) and atrophy