GM2 gangliosidoses
Mar. 15, 2023
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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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A 6.3-year-old girl with a history of a few staring episodes per day. During sleep video-EEG, frequent generalized spike-wave discharges of around 3 Hz, or occasionally fragmented, brief, double-spike or spike-wave generalized discharges lasting less than half a second to 8 seconds, were recorded. In a few of the discharges, her eyes opened slightly and closed again after discharge. On awake video-EEG during hyperventilation, she stopped overbreathing, her eyes opened and stared, and she became unsteady and took a few steps forward within about 1 second from the onset of a generalized spike-wave discharge. Some automatisms with her hands were also present. (Contributed by Dr. Athanasios Covanis.)