Two Siblings with Eyelid Myoclonia with Absences.

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We report two siblings with eyelid myoclonia with absences. Patient 1, a 7-year-old boy, visited us be-cause of eyelid blinking resembling a tic. He had experienced the movements since 2 years old. The diagnosis of a simple motor tic was initially made, however, the episodes worsened gradually. Patient 2, a younger brother of patient 1, was a 5-year-old boy. His eyelid blinking also began at age of 2 years. Additionally, the mother's aunt and her cousin had a history of grand mal on awakening, and the patient's cousin has feb-rile seizures.<BR>Their clinical features were as follows;(i) eyelid myoclonia, described as rapid, rhythmic eyelid flutter-ing with upward jerking of the eyes and head, lasting for 1-2 seconds;(ii) it occurred frequently each day;(iii) when it lasted for more than 2-3 seconds, it was associated with absences ;(iv) both hyperventilation and photic stimulation on 18 f/c induced clinical seizures; and (v) ictal EEG revealed 3-4 c/s generalized irregular spike-waves with a duration of 1-3 seconds.<BR>Based on these characteristics, a diagnosis of eyelid myoclonia with absences was made. The present cases are the first sibling cases reported in Japan and, according to their family history, a genetic predisposi-tion should be considered.
一般社団法人日本小児神経学会の論文