Metabolic etiologies in West syndrome

Research output: Contribution to journalReview article

1 Citation (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)134-166
Number of pages33
JournalEpilepsia Open
Volume3
Issue number2
DOIs
StatePublished - Jan 1 2018

Fingerprint

Infantile Spasms
Electroencephalography
Vitamin B 6 Deficiency
Brain Diseases
Lysosomes
Organelles
Mitochondria
Fatty Acids
Metals
Pathology
Amino Acids
Glucose

Keywords

  • Early onset epileptic encephalopathy
  • Hypsarrhythmia
  • Inborn errors of metabolism
  • Infantile spasms
  • Metabolic disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Metabolic etiologies in West syndrome. / Salar, Seda; Moshe, Solomon L.; Galanopoulou, Aristea S.

In: Epilepsia Open, Vol. 3, No. 2, 01.01.2018, p. 134-166.

Research output: Contribution to journalReview article

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N2 - 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.

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