Cockayne syndrome
Mar. 22, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Video-EEG images of an 8.5-year-old girl who was referred by a child psychologist following an assessment for educational problems. At the age of 6, she started having eyelid jerks, but her parents believed she was having tics. During the video-EEG recording, electroclinical events characteristic of Jeavons syndrome were recorded on voluntary and on command eye closure. (A) On eye closure, her eyes flung open and eyelids jerked, and she had a vague facial expression, concomitant with a generalized spike-and-wave discharge. Toward the end of the discharge, her eyes closed again, as instructed. (B) and (C) Discharges were triggered during photic and pattern stimulation, even with eyes open. The photosensitivity range was 5 to 40 Hz. Sleep EEG showed a few generalized discharges, with no clinical correlation. Her response to sodium valproate monotherapy was complete and has remained so for the past 7 years. Her school performance has remained average, although she has shown some improvement. (Contributed by Athanasios Covanis MD PhD.)