The role of a genetic predisposition and other risk factors for seizures was analyzed by evaluation of records of 80 children with infantile spasms and compared with 474 children with other types of epilepsy, and 2196 children with febrile seizures, admitted with neurologic disorders at age 1 month to 2 years to 12 Danish pediatric departments during 1967-68 and 1972-73. There was a family history of seizures in 14% of children with infantile spasms, compared to 29% in children with other epilepsies, 26% in those with febrile seizures, and 5% in children admitted for CNS infections. A family history of seizures increased the risk for infantile spasms threefold, but only in the cryptogenic cases that made up 50% of the group. Neonatal hypoxia, neonatal seizures, and CNS malformations were much stronger predictors of infantile spasms than genetic factors. The relatively low incidence of organic cases in this study was explained by the lack of available brain imaging. [1]

COMMENT. A family history of seizures contributes to a 3-fold risk for infantile spasms of the cryptogenic variety. Organic brain disorders and neurologic abnormalities play a much stronger role as precursors of infantile spasms. Neonatal seizures are particularly predictive of possible occurrence of infantile spasms.

Long-term outcome of West syndrome was studied in 214 children with a history of infantile spasms followed for 20-35 years or until death (31%) at the Children’s Hospital, University of Helsinki, Finland [2]. Infection was the most frequent cause of death (31 of 67 patients). Eight children who died during treatment with large doses of ACTH had enlarged adrenal glands and hypertrophic cardiomyopathy. Among survivors, intelligence was normal or near normal in 24%. Factors predictive of a good prognosis included a crytogenic etiology, normal development before onset of spasms, and a good response to ACTH. Focal abnormalities in the EEG were not necessarily indicative of a poor prognosis.

Treatment with high-dose ACTH (150 U/m2/day) was superior to prednisone (2 mg/kg/day) in suppressing clinical spasms and hypsarrhythmia in the EEG in a prospective, randomized, blinded study of 29 patients (22 symptomatic and 7 cryptogenic etiologies) treated for 2 week periods at the University of Southern California, Los Angeles [3]. Of 15 patients randomized to ACTH, 13 (87%) responded, compared to 4 (29%) of 14 given prednisone.