title: [Two siblings with eyelid myoclonia with absences].
abstract: We report two siblings with eyelid myoclonia with absences. Patient 1, a 7-year-old boy, visited us because 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 febrile seizures. Their clinical features were as follows; (i) eyelid myoclonia, described as rapid, rhythmic eyelid fluttering 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. 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 predisposition should be considered.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University Toyama, Toyama.
authors.forename: S
authors.initials: S
authors.lastname: Yagi
authors.forename: J
authors.initials: J
authors.lastname: Matsuzawa
authors.forename: K
authors.initials: K
authors.lastname: Hongou
authors.forename: M
authors.initials: M
authors.lastname: Yamatani
authors.forename: T
authors.initials: T
authors.lastname: Miyawaki
authors.forename: T
authors.initials: T
authors.lastname: Konishi
mesh_terms: D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000235:genetics*; D005141:Eyelid Diseases / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male