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|Year : 2017 | Volume
| Issue : 1 | Page : 224-225
Early-onset pure absence epilepsy with eyebrow myoclonia
Department of Neonatal, Pediatric and Adolescent Medicine, BL Kapur (BLK) Super Speciality Hospital, New Delhi, India; Epilepsy Services, Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada
|Date of Web Publication||12-Jan-2017|
Dr. Puneet Jain
Epilepsy Services, Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada (M5G 1X8)
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jain P. Early-onset pure absence epilepsy with eyebrow myoclonia. Neurol India 2017;65:224-5
A 3.5-year-old girl presented with daily seizures for the last 2 months. The episode consisted of brief spells of vacant stare with no postictal events, occurring 20–30 times in a day. There were no other seizure types seen. A cognitive decline, behavioural abnormalities, or abnormal body movements were also not observed. Her examination was unremarkable. Hyperventilation precipitated the events. Her video electroencephalogram is shown in Video 1 [Figure 1]. The final diagnosis of early-onset pure absence epilepsy with eyebrow myoclonia was made. She was started on oral valproate at a dose of 15 mg/kg/day, and became seizure-free after 7 days.
|Figure 1: EEG in the reported case: The record shows abrupt onset 3-Hz monomorphic generalized high amplitude spike wave discharges with no intra-discharge frequency variation or fragmentation|
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Early-onset pure absence epilepsy is characterized by the onset of absences occurs in patients who are in the age range of from a few months to 4 years. These patients have a normal neurodevelopment, a good response to anticonvulsant drugs, and a normal intellectual outcome. These seizures may be associated with paroxysmal dyskinesias. Mutations in SLC2A1 (encoding the glucose transporter) account for approximately 10% cases of early-onset pure absence epilepsy. Our patient had the onset of seizures since she was 3.5 years of age. This, however, was not associated with any movement disorder.
Typical absence seizures may be associated with myoclonic jerks, which are restricted to a very limited area of the face or neck. Capovilla et al., described them in 10/12 children with typical absence seizures of the eyebrow (n = 4), perioral region (n = 4), sternocleidomastoid (n = 2), nostril (n = 1), and chin (n = 1). All these children showed a good response to anticonvulsant drugs. Thus, myoclonic jerks occurring in the context of typical absence seizures do not worsen the prognosis. Other distinct absence syndromes with a prominent myoclonic component include epilepsy with myoclonic absences, absences with eyelid myoclonia, and absences with perioral myoclonia.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
The author is grateful to the EEG technicians, Mr Sajo and Mr Arjun.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| » References|| |
Verrotti A, Agostinelli S, Olivieri C, Chiarelli F, Curatolo P. Early-onset pure absence epilepsy: A distinct epileptic syndrome. Acta Paediatr 2011;100:647-50.
Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T, et al
. Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 2002;43:1224-9.
Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, et al
. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 2015;56:e203-8.
Capovilla G, Rubboli G, Beccaria F, Lorenzetti ME, Montagnini A, Resi C, et al
. A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study. Epileptic Disord 2001;3:57-62.