Metabolic etiologies in West syndrome
Abstract
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Mar 14, 2018
- Source ID
- 10.1002/epi4.12102
Entities
People
- Aristea S Galanopoulou
- Seda Salar
- Solomon L. Moshé
Organizations
- Albert Einstein College of Medicine
- National Institute of Neurological Disorders and Stroke
- National Institutes of Health
- United States Department of Defense