A case series of reflex myoclonic absence epilepsy of infancy – an age-dependent idiopathic generalized epileptic (IGE) syndrome – with good prognosis

Abstract

Background Myoclonic epilepsies in the infantile age have varied presentations including benign myoclonic epilepsy of infancy (MEI) on one side and Doose, west, Dravet syndrome as well as recognized syndromes on the severe spectrum on the other side. MEI is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. Reflex myoclonic epilepsy of infancy (RMEI) has startle- and tectile-induced myoclonias and needs distinct consideration from MEI.

Results Hereby, a case series of 3 infants, started with reflex myoclonic absence seizures before 12 months of age, has been described. All the infants have unremarkable birth history, normal development, and examination. They started with myoclonic jerks involving torso and upper extremities and were associated with startle induced by unexpected sounds and tectile stimulation. All children were treated with valproate and were followed till date with minimum follow-up of 12 months and showed complete seizure control at low dose of valproate. At 6-month follow-up, all children were seizure-free with normal development.

Conclusion Reflex myoclonic absence epilepsy is an age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis. It needs to be recognized separately as new syndrome and should be differentiated from the other myoclonic epilepsies of same age.

Keywords

RMEI - MEI - Reflex myoclonic epilepsy of infancy

• References

• 1 Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P. Epileptic Syndromes in Infancy, Childhood and Adolescence. 2005. John Libbey Eurotext; Montrouge: 73-76
• 2 Mangano S, Fontana A, Spitaleri C. et al. Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy. Seizure 20 2011; 727-730
• 3 Auvin S, Pandit S, De Bellecize J. et al. Benign myoclonic epilepsy in infants: electroclinical features and long-term follow-up of 34 patients. Epilepsia 47 2006; 387-393
• 4 Giovanardi Rossi P, Parmeggiani A, Posar A, Santi A, Santucci M. Benign myoclonic epilepsy: long-term follow-up of 11 new cases. Brain Dev 19 1997; 473-479
• 5 Engel JA. Proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on classification and terminology. Epilepsia 42 2001; 1-8
• 6 Ricci S, Cusmai R, Fusco L, Vigevano F. Reflex myoclonic epilepsy in infancy: a new age-dependent idiopathic epileptic syndrome related to startle reaction. Epilepsia 36 1995; 342-348
• 7 Deonna T. Reflex seizures with somatosensory precipitation. Clinical and electroencephalographic patterns and differential diagnosis, with emphasis on reflex myoclonic epilepsy of infancy. Zifkin BG, Andermann F, Beaumanoir A, Rowan AJ. Reflex Epilepsies and Reflex Seizures: Advances in Neurology. vol. 75 1998. Lippincott-Raven Publishers; Philadelphia: 193-206
• 8 Verrotti A, Matricardi S, Capovilla G. et al. Reflex myoclonic epilepsy in infancy: a multicenter clinical study. Epilepsy Res 103 2013; 237-244
• 9 Zuberi SM, O’Regan ME. Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases. Epilepsy Res 70S 2006; S110-S115
• 10 Yang Z, Liu X, Qin J. et al. Clinical and electrophysiological characteristics of startle epilepsy in childhood. Clin Neurophysiol 121 2010; 658-664