A spectrum of disease manifestation ranging between Neonatal adrenoleukodystrophy and Infantile Refsum disease, representing the milder manifestations of Peroxisome biogenesis disorders. The most severe form is Zellweger syndrome.
On imaging patients with neonatal leukodystrophy have diminished myelination in the cerebral white matter and around the dentate nuclei. They may also show multiple small gyri, simulating polymicrogyria
Infantile Refsum disease may show loss of normal signal in the sensorimotor pathways while Neonatal adrenoleukodystrophy