title: Epilepsy with myoclonic-atonic seizures (Doose syndrome): When video-EEG polygraphy holds the key to syndrome diagnosis.
abstract: An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myoclonic epilepsy in infancy. After 9 years of medically resistant myoclonic seizures, extensive investigations, and emerging learning difficulties, she was referred for video-telemetry to characterize her seizures in an attempt to make a syndromic diagnosis. A three-day video-telemetry assessment was performed to document seizures. Neck and deltoid EMG channels were applied from the onset of the recording. Frequent generalized bursts of 3- to 5-Hz spike/polyspike and slow wave discharges, associated with clinical manifestations, mostly myoclonic seizures, were noted. In addition, definite atonic components were noted on the neck EMG as well as the deltoids associated with the slow component of the ictal discharges. The EEG and polygraphy findings are suggestive of a generalized epilepsy characterized by predominantly myoclonic seizures with atonic components. This raises the possibility whether a variant of epilepsy with myoclonic-atonic seizures (Doose syndrome) may be the underlying diagnosis for this girl. A trial of the ketogenic diet would therefore be considered as an option in her future management in view of its beneficial effect in this condition.
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors.forename: Pinelopi
authors.initials: P
authors.lastname: Dragoumi
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Chivers
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK.
authors.forename: Megan
authors.initials: M
authors.lastname: Brady
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK.
authors.forename: Sheila
authors.initials: S
authors.lastname: Craft
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK.
authors.forename: David
authors.initials: D
authors.lastname: Mushati
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors.forename: Gopalakrishnan
authors.initials: G
authors.lastname: Venkatachalam
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; UCL - Institute of Child Health, London, UK.
authors.forename: Judith Helen
authors.initials: JH
authors.lastname: Cross
authors.affiliation: Young Epilepsy, Lingfield, Surrey, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors.forename: Krishna B
authors.initials: KB
authors.lastname: Das
keywords: Childhood; Doose syndrome; Myoclonic epilepsy; Myoclonic–astatic epilepsy; Myoclonic–atonic seizures; Video-telemetry