West syndrome: causes

Evidence-based neurology checklist on west syndrome: causes: Metabolic causes Alexander disease Alpers disease Biotinidase deficiency D-glyceric aciduria Developmental delay, epilepsy and neonatal diabetes (DEND) GLUT1 deficiency Homocystinaemias Hurler syndrome Isovaleric acidemia Krabbe disease…

Metabolic causes

  • Alexander disease
  • Alpers disease
  • Biotinidase deficiency
  • D-glyceric aciduria
  • Developmental delay, epilepsy and neonatal diabetes (DEND)
  • GLUT1 deficiency
  • Homocystinaemias
  • Hurler syndrome
  • Isovaleric acidemia
  • Krabbe disease
  • Leigh syndrome
  • Menke’s disease
  • Methylmalonic aciduria
  • Molybdenum cofactor deficiency (MCD)
  • Niemann Pick disease
  • Non-ketotic hyperglycaemia
  • Phenylketonuria
  • Primary carnitine deficiency (PCD)
  • Propionic acidemia
  • Pyridoxine deficiency
  • Pyruvate dehydrogenase complex (PDHC) deficiencies
  • SCAD deficiency
  • Vitamin B12 deficiency
  • Williams Beuren syndrome (WBS)

Causes: others

Clinical features: infantile spasms

Clinical features: others

Mortality

References

  1. Salar S, Moshé SL, Galanopoulou AS. Metabolic etiologies in West syndrome. Epilepsia Open 2018; 3:134-166. 
  2. Wheless JW, Gibson PA, Rosbeck KL, et al. Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents. BMC Pediatr 2012; 12:108. 
  3. Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
  4. Lagae L, Verhelst H, Ceulemans B, et al. Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study. Seizure 2010; 19:159-164.
  5. Sillanpää M, Riikonen R, Saarinen MM, Schmidt D. Long-term mortality of patients with West syndrome. Epilepsia Open 2016; 1:61–66.

Related checklists

Loading...