West syndrome: causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
West syndrome: causes. Alexander disease, Alpers disease, Biotinidase deficiency, D-glyceric aciduria. Fully referenced neurology checklist.
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
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Clinical features: infantile spasms
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Clinical features: others
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Mortality
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References
- Salar S, Moshé SL, Galanopoulou AS. Metabolic etiologies in West syndrome. Epilepsia Open 2018; 3:134-166.
- 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.
- Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
- 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.
- Sillanpää M, Riikonen R, Saarinen MM, Schmidt D. Long-term mortality of patients with West syndrome. Epilepsia Open 2016; 1:61–66.
