Infantile spasms in Down syndrome: A case series

Objective To describe the outcome of infantile spasms in a series of patients affected by Down syndrome. Materials and methods 8 patients now aged from 18 months to 10 years have been prospectively followed since the onset of spasms (mean follow-up, 5.2 years). Results Pre-perinatal history was uneventful in 7 cases; one infam suffered from perinatal hypoxic insult. Symmetrical spasms appeared between 5 and 10 months (mean age, 6.5 months) and were always associated with hypsarrhythmia and mild psychomotor regression. All infants have been treated with ACTH (3-5 ILJ/kg per day for 15 days, tapered over 2 months), in three cases after an unsuccessful trial with AED. Following ACTH treatment, spasms and hypsarrhythmia promptly disappeared in 7 of 8 cases and the infants regained developmental milestones; relapse of spasms occurred only in one infant who, in addition to Down syndrome, had had a perinatal hypoxic insult. Conclusion Our data confirm the good prognosis of infantile spasms in Down syndrome and the efficacy of ACTH treatment in seizure control, EEC normalization and long-term prognosis.