Clinical and Neuroimaging Features of Peroxisomal Disorders

A 1-day-old term infant with prenatal polyhydramnios presented with hypotonia, minimal movement, nystagmus, dysmorphisms, and drug-resistant epilepsy. Serum studies showed elevated ammonia, liver enzymes, and hyperbilirubinemia requiring phototherapy and intravenous immunoglobulin. Neuroimaging showed subependymal germinolytic pseudocysts and extensive polymicrogyria of perisylvian regions, frontal, and parietal lobes ([Fig. 1]). Very long chain...