A form of myoclonus epilepsy with onset in infancy or early childhood. It is characterized by seizures involving the muscles of the neck, trunk, and limbs, with nodding of the head and flexion and abduction of the arms as typical features. Mental retardation is associated in most cases. EEG shows hypsarrhythmia. There is a propensity to infections with a high mortality due to bronchopneumonia. Some cases are transmitted as an X-linked trait.
West described the syndrome in his son, James Edwin West (1840-1860), who showed the first symptoms at the age of about four months.
- W. J. West:
On a peculiar form of infantile convulsions. Letter. Lancet, 1840-1841, I: 724-725.
- T. E. Cone Jr:
On a peculiar form of infantile convulsions (hypsarrhythmia) as described in his own infant son by Dr. W.J. West in 1841.
Pediatrics, October 1970, 46 (4): 603.
- C. T. Lombroso:
Neonatal seizures: historic note and present controversies.
Epilepsia, 1996, 37 Supplement 3: 5-13.
- L. Lux:
West & son: the origins of West syndrome.
Brain & Development, November 2001, 23 (7): 443-446.
- R. Duncan R. Related:
Infantile spasms: the original description of Dr West. 1841.
Epileptic Disorders, Montrouge, January-March 2001, 3 (1): 47-48.
- P. Eling, W. O. Renier, J. Pomper, T. Z. Baran:
The mystery of the Doctor's son, or the riddle of West syndrome.
Neurology, Minneapolis, March 26, 2002, 58 (6): 953-955.
- L. Carmant:
Infantile spasms: West syndrome.
Archives of Neurology, Chicago, February 2002, 59 (2): 317-318.