Early-onset eyelid myoclonia and absences in a 17.5-month-old boy (2) (video-EEG)

Awake video-EEG of a 17.5-month-old boy who, from the age 6 months, frequently raised his left arm in front of his eyes while his head seemed to bend down. This recurred on a daily basis, and the events continued with increasing frequency. His mother attributed the events to tiredness and sleepiness. At the age of 17 months, he was seen by his pediatrician, and he was referred for assessment. Perinatal and past history were noncontributory, except that he was a slow feeder up to the age of 6 months. Of note, his mother had a single febrile seizure at the age of 2.5 years, and his great grandfather had “posttraumatic epilepsy during the war.” His aunt developed epilepsy at the age of 16 years and was continuing treatment at the age of 35 years. At the age of 17.5 months, the boy’s overall assessment was around 14 months old, with some spread. On awake video-EEG, episodes were recorded on voluntary and on command eye closure in the presence of light. As he closed his eyes, he also raised his left arm in front of his eyes, with concomitant eyelid fluttering and a very brief vague look. During the event, his head dropped forward as if he wanted to sleep. Many episodes were recorded during the basic EEG and during intermittent photic stimulation. The photosensitivity range varied from 8 to 60 Hz. MRI and metabolic screening were negative. Sodium valproate was given at 30 mg/kg/day. The daily dose was gradually increased to 55 mg/kg/day, when complete response was achieved. Subsequently, he was assessed twice yearly. At the age of 7.5 years, he had remained seizure-free for about 5 years, and the daily dose had gradually been reduced to 20 mg/kg/day. The video-EEGs had not shown generalized spike-and-wave discharges, except for some bilateral slow activity and a discharge at 20 Hz during photic stimulation. His performance was found to be around 3.5 years behind his age, but gradual improvement was noticed during the last year. He was last seen at the age of 9 years. He continued being free of seizures, and his EEGs were slow for his age but without generalized spike-and-wave discharges or photosensitivity. His performance gradually improved, and he was able to read and write at a developmental age of 6 to 7 years. (Contributed by Athanasios Covanis MD PhD.)