İnfantil Miyoklonik Epilepsi
Özet
İnfantil myoklonik epilepsi (IME); yaşamın ilk üç yılında başlayan, kısa miyoklonik nöbetlerle karakterize, kendi kendini sınırlayan, nadir bir epileptik sendromdur. Çocuklarda nöbet başlangıcından önceki gelişim genellikle normaldir. Miyoklonik nöbetler, İME de görülen tek nöbet tipidir. Miyoklonusun epileptik olduğunu doğrulamak ve İnfantil Epileptik Spazm Sendromunu (IESS) dışlamak için video ve elektromiyografi (EMG) ile birlikte çekilen EEG tanı açısından gereklidir. Nöbetler, ağırlıklı olarak baş ve üst ekstremiteyi içeren 1-2 sn’lik kısa-tek veya 2 - 8 adet miyoklonik atım kümesi ile karakterizedir. Refleks miyoklonik epilepsiler ve febril nöbetler vakaların bir kısmında eşlik edebilir. Hastaların %80’ni VPA tedavisi altında nöbetsiz seyreder.
Myoclonic Epilepsy of Infancy (MEI) is a rare, self-limiting epileptic syndrome characterized by short myoclonic seizures that begin in the first three years of life. In affected children, development before the onset of seizures is usually normal. Myoclonic seizures are the only seizure type seen in MEI. An EEG with video and electromyography (EMG) is necessary to confirm that the myoclonus is epileptic and to exclude Infantile Epileptic Spasm Syndrome (IESS). Seizures are characterized by short single or clusters of 2 to 8 myoclonic spasms with a duration of 1-2 seconds, predominantly involving the head and upper extremities. Reflex myoclonic epilepsies and febrile seizures may be present in some cases. 80% of patients remain seizure- free under VPA treatment.
Referanslar
Dravet C, Bureau M. [The benign myoclonic epilepsy of infancy (author's transl)]. Rev Electroencephalogr Neurophysiol Clin. 1981;11(3-4):438-44.
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989;30(4):389-99.
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. 2006;70 Suppl 1:S110-5.
Engel J, Jr. Report of the ILAE classification core group. Epilepsia. 2006;47(9):1558-68.
Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1333-48.
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1349-97.
Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P. Reflex myoclonic epilepsy in infancy: a critical review. Epileptic Disord. 2013;15(2):114-22.
Auvin S, Pandit F, De Bellecize J, Badinand N, Isnard H, Motte J, et al. Benign Myoclonic Epilepsy in Infants: Electroclinical Features and Long‐term Follow‐up of 34 Patients. Epilepsia. 2006;47(2):387-93.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, et al. A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. Front Mol Neurosci. 2018;11:269.
Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, et al. Epilepsy-associated genes. Seizure. 2017;44:11-20.
Caraballo R, Cersósimo R, Galicchio S, Fejerman N. [Epilepsies during the first year of life]. Rev Neurol. 1997;25(146):1521-4.
Lin Y, Itomi K, Takada H, Kuboda T, Okumura A, Aso K, et al. Benign myoclonic epilepsy in infants: video-EEG features and long-term follow-up. Neuropediatrics. 1998;29(5):268-71.
Caraballo RH, Flesler S, Pasteris MC, Lopez Avaria MF, Fortini S, Vilte C. Myoclonic epilepsy in infancy: An electroclinical study and long‐term follow‐up of 38 patients. Epilepsia. 2013;54(9):1605-12.
Dravet C, Bureau M, Genton P. Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. Epilepsy Res Suppl. 1992;6:131-5.
Darra F, Fiorini E, Zoccante L, Mastella L, Torniero C, Cortese S, et al. Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases. Epilepsia. 2006;47 Suppl 5:31-5.
Jiang Y, Zhou X. Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy. Medicine (Baltimore). 2022;101(38):e30512.
Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D. Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord. 2007;9(4):353-412.
Mangano S, Fontana A, Cusumano L. Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome. Brain Dev. 2005;27(3):218-23.
Referanslar
Dravet C, Bureau M. [The benign myoclonic epilepsy of infancy (author's transl)]. Rev Electroencephalogr Neurophysiol Clin. 1981;11(3-4):438-44.
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989;30(4):389-99.
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. 2006;70 Suppl 1:S110-5.
Engel J, Jr. Report of the ILAE classification core group. Epilepsia. 2006;47(9):1558-68.
Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1333-48.
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1349-97.
Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P. Reflex myoclonic epilepsy in infancy: a critical review. Epileptic Disord. 2013;15(2):114-22.
Auvin S, Pandit F, De Bellecize J, Badinand N, Isnard H, Motte J, et al. Benign Myoclonic Epilepsy in Infants: Electroclinical Features and Long‐term Follow‐up of 34 Patients. Epilepsia. 2006;47(2):387-93.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, et al. A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. Front Mol Neurosci. 2018;11:269.
Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, et al. Epilepsy-associated genes. Seizure. 2017;44:11-20.
Caraballo R, Cersósimo R, Galicchio S, Fejerman N. [Epilepsies during the first year of life]. Rev Neurol. 1997;25(146):1521-4.
Lin Y, Itomi K, Takada H, Kuboda T, Okumura A, Aso K, et al. Benign myoclonic epilepsy in infants: video-EEG features and long-term follow-up. Neuropediatrics. 1998;29(5):268-71.
Caraballo RH, Flesler S, Pasteris MC, Lopez Avaria MF, Fortini S, Vilte C. Myoclonic epilepsy in infancy: An electroclinical study and long‐term follow‐up of 38 patients. Epilepsia. 2013;54(9):1605-12.
Dravet C, Bureau M, Genton P. Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. Epilepsy Res Suppl. 1992;6:131-5.
Darra F, Fiorini E, Zoccante L, Mastella L, Torniero C, Cortese S, et al. Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases. Epilepsia. 2006;47 Suppl 5:31-5.
Jiang Y, Zhou X. Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy. Medicine (Baltimore). 2022;101(38):e30512.
Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D. Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord. 2007;9(4):353-412.
Mangano S, Fontana A, Cusumano L. Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome. Brain Dev. 2005;27(3):218-23.
