Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

Abstract

A 1-year-old male began suffering from West syndrome at 3months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6months. Thereafter, progressive atrophy of the brain became evident by 9months of age, predominantly at the brainstem and cerebellum. Severe hypomyelination of the cerebral white matter was revealed at the age of 1year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed. The patient showed severely impaired psychomotor development, and had gained no visual attention. These findings contribute to the characterization of this recently established entity and facilitate the identification of further patients.