Non-Progresif Hastalıklarda Miyoklonik Ensefalopati
Özet
Non-progresif hastalıklarda miyoklonik ensefalopati, genellikle yaşamın ilk yıllarında ortaya çıkan, tedaviye dirençli nöbetler ve nörogelişimsel bozukluklarla karakterize elektroklinik bir sendromdur. Genetik mutasyonlar ve kromozomal anomaliler en yaygın etiyolojik nedenleri oluştururken, tabloya eşlik eden ensefalopati durumu zamanla kötüleşebilmektedir. Tanı sürecinde EEG ve detaylı klinik değerlendirme kritik öneme sahip olup, tedavi yaklaşımı altta yatan spesifik genetik veya metabolik bozukluğa göre belirlenmektedir. Antiepileptik ilaçlar ve diyet tedavileri nöbet kontrolünde temel yöntemler olarak öne çıkmaktadır.
Myoclonic encephalopathy in non-progressive diseases is an electroclinical syndrome characterized by treatment-resistant seizures and neurodevelopmental impairments, typically emerging in early childhood. Genetic mutations and chromosomal anomalies are the primary underlying causes, and the associated encephalopathic clinical state can worsen over time. Diagnosis necessitates comprehensive EEG analysis and clinical assessment, with management strategies tailored to the specific genetic or metabolic disorder identified. Antiepileptic medications and specialized dietary therapies remain the core methods for managing seizure activity.
Referanslar
Scheffer I.E, Berkovic S, Capovilla G et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr; 58 (4): 521-521. doi: 10.1111/ epi.13709. Epub 2017 Mar 8.
Pressler R.M, Cilio M.R, Mizrahi E.M et al. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia. 2021; 62: 615-628. doi:10.1111/epi.16815.
Berg A.T, Berkovic S.F, Brodie M.J et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010 Apr; 51 (4): 676-85. doi:10.1111/j.1528-1167.2010.02522.x. Epub 2010 Feb 26.
Varnado S, Price D. Basics of modern epilepsy classification and terminology. Curr Probl Pediatr Adolesc Health Care 2020; 50:100891. https://doi.org/10.1016/j.cppeds.2020.100891
Scheffer I.E, Liao J. Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy. Eur J Paediatr Neurol. 2020 Jan; 24:11-14. doi:10.1016/j.ejpn.2019.12.023 Epub 2019 Dec 31.
Budisteanu M, Jurca C, Papuc S.M et al. Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases. Open Life Sci. 2020; 15:21-29. https://doi.org/10.1515/biol-2020-0003.
Pavone P, Corsello G, Ruggieri M, Marino S, Marino S, Falsaperla R. Benign and severe early-life seizures: a round in the first year of life. Italian Journal of Pediatrics. 2018; 44:54. https://doi.org/10.1186/s13052-018-0491-z.
https://www.epilepsydiagnosis.org/syndrome/menpd-overview.html
Swainman’s Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia,United State: Elsevier- Health Sciences Division; 2017. p557-563.
Maurizio Elia. Myoclonic status in nonprogressive encephalopathies: an update. Epilepsia. 2009 Mau: 50 Suppl 5:41-4. doi:10.1111/j.1528-1167.2009.02119.x.
Phillip L. Pearl. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 Feb; 24 (1, Child Neurology): 186-209). doi: 10.1212/CON.0000000000000568.
https://rarediseases.org/rare-diseases/pallister-killian-mosaic-syndrome/
https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html
https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/
Jacque P.K., Mellos N. ,Sur M. Rett syndorme: insights into genetic, molecular and circuit mechanisms. Nature reviews neuroscience 19, 368- 382 (2018). doi: https: //doi.Org/10.1038/s4158-018-0006-3.
Operto F.F., Mazza R. , Pastorino G.M.G. Epilepsy and genetic in Rett syndrome: A review. Brain and Behavior/ Volume 9, Issue 5/ e01250. doi:https//doi.org/10.1002/brb3.1250.
