Erken Miyoklonik Epilepsi (EME)
Özet
Erken Miyoklonik Epilepsi (EME), yaşamın ilk günlerinde başlayan ve düzensiz miyokloniler, fokal nöbetler ve tonik spazmlar ile karakterize ciddi bir epileptik ensefalopatidir. Temelinde genellikle doğuştan metabolik hastalıklar yatan bu sendrom, EEG'de görülen burst-supresyon paterni ile tanımlanır. Tedaviye dirençli nöbetler ve ciddi psikomotor gelişim geriliği nedeniyle prognozu oldukça kötüdür; hastaların yaklaşık yarısı yaşamın ilk yılı içinde kaybedilir. Standart antiepileptik tedavilerin etkisiz kaldığı bu tabloda, yönetim genellikle altta yatan metabolik nedene odaklanmaktadır.
Early Myoclonic Encephalopathy (EME) is a severe epileptic encephalopathy that typically emerges in the first days of life, characterized by irregular myoclonus, focal seizures, and tonic spasms. Primarily rooted in congenital metabolic disorders, the condition is identified by a distinct burst-suppression pattern on EEG. Due to seizures resistant to standard anticonvulsants and severe progressive neurological deterioration, the prognosis is poor, with approximately half of patients not surviving beyond the first year. Management focuses largely on the underlying metabolic etiology, as standard antiepileptic therapies have proven ineffective.
Referanslar
Nieh SE, Sherr EH. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014;11(4):796–806.
Ohtahara S, Ishida T, Oka E, Yamatogi Y, Inoue H, Kanda S. On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression burst. No to Hattatsu (Tokio). 1976;8:270–80.
Covanis A. Epileptic encephalopathies (including severe epilepsy syndromes). Epilepsia. 2012;53(Suppl 4):114–26.
Aicardi J. Early myoclonic encephalopathy (neonatal myoclonic encephalopathy). In: Roger J, Bureau M, Dravet C, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London/Paris: John Libbey, 1992: 13-23.
Bastos H, da Silva PF, de Albuquerque MA, Mattos A, Riesgo RS, Ohlweiler L. Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. Seizure. 2008;17:378–82.
Lombroso CT. Early myoclonic encephalopathy, early infantile epileptic encephalopathy and benign and severe infantile myoclonic epilepsies: a critical review and per- sonal contributions. J Clin Neurophysiol 1990; 7:380-408.
Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20: 398-407.
Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76:188–94.
Ohtahara S, Yamatogi Y. Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 2006;70(Suppl. 1):S58e67
Djukic A, Lado FA, Shinnar S, Moshé SL. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) inde- pendent of each other? Epilepsy Res 2006;70:68e76.
Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol. 2012 Nov;47(5):317-23.
Tekgul H, Serdaroglu G, Karapinar B, et al. Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with non ketotic hyper- glycinemia. J Child Neurol 2006;21:82e4.
Shii M, Shimono M, Senju A, Kusuhara K, Shiota N. The ketogenic diet as an effective treatment for Ohtahara syndrome. No To Hattatsu 201; 43:47e50.
