Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. Compared to other PEX-related disorders, some PEX16 defects are associated with an atypical phenotype consisting of spasticity, cerebellar dysfunction, preserved cognition, and prolonged survival. In this case series, medical records and brain MRIs from 7 patients with this PEX16 presentation were reviewed to further characterize this phenotype.

Intravenous Immunoglobulin as a Therapeutic Option for Encephalitis.

Objective: To analyze the outcomes of a cohort of children diagnosed with encephalitis whose treatment regimens included intravenous immunoglobulin (IVIG).

Methods: A retrospective study was performed at a single center between 2011 and 2016 of children diagnosed with encephalitis whose acute treatment regimen included IVIG. Details of therapeutic interventions and the clinical course were retrieved from medical records via an institutionally approved protocol.