Metabolic etiologies in West syndrome.

摘要: West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background multifocal spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in rest, etiology unknown. Here we review contribution due to various metabolic disorders pathology WS. These may include errors organic molecules involved amino acid glucose metabolism, fatty oxidation, metal pyridoxine deficiency dependency, acidurias organelles such as mitochondria lysosomes. We discuss biochemical, clinical, EEG features these well evidence how they be implicated pathogenesis treatment The recognition some cases permit interventions that improve course disease.