Dirençli epilepsi ve nonkonvülsif status epileptikusun nadir bir nedeni: Ring 20 kromozomu

Giriş: Ring kromozom 20 antiepileptik ilaçlara dirençli nöbetler ve nonkonvülzif status epileptikus ile prezante olur. Hafif–orta öğrenme güçlüğü ve çeşitli dismorfik özellikler eşlik eden diğer bulgulardır. Nadir görülmesi ve spesifik fenotipik özelliğinin olmaması nedeniyle tanısı yüksek şüphe gerektirmektedir.Olgu: Bu yazıda çocuk nöroloji kliniğimize kompleks parsiyel nöbet ve nonkonvülzif status epileptikus ile başvuran, sitogenetik incelemede ring kromozom 20 tespit edilen bir çocuk hasta sunuldu.Sonuç: Etiyolojisi belli olmayan antiepileptik ilaçlara dirençli epilepsi ile izlenen hastalarda sitogenetik incelemeler değerlendirmenin bir parçası olmalıdır.

Anahtar Kelimeler:

ring kromozom 20, antiepileptik ilaçlara, dirençli epilepsi

A Rare Cause of Drug-Resistant Epilepsy and Nonconvulsive Status Epilepticus: Ring Chromosome 20

Introduction: Ring chromosome 20 presents as a drug-resistant epilepsy syndrome with complex partial seizures and nonconvulsive status epilepticus. Other characteristics are mild to moderate learning disability, and various dysmorphic features. Its diagnosis necessitates a high index of suspicion since the incidence is rare and there is no a specific phenotypic expression.Case: Here we present a child admitted to our pediatric neurology clinic with complex partial seizures and nonconvulsive status epilepticus. Cytogenic studies revealed ring chromosome 20. Conclusion: Cytogenic studies should be part of the evaluation in epilepsy patients who presented with drug resistant epilepsy of unknown etiology.

Keywords:

Ring chromosome 20, drug-resistant epilepsy, Nonconvulsive,

PDF

___

Radhakrishnan A, Menon R, Hariharan S, Radhakrishnan K. The evolving electroclinical syndrome of ‘’epilepsy with ring chromosome 20. Seizure 2012;21(2)92-7.
Atkins L, Miller WL, Salam M. A ring-20 chromosome. J Med Genet 1972;9:377-80.
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GE, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosomal 20 q13.2. Nat Genet 1995;10:117-8.
Hergård E, Mononen T, Mervaala E, Kuusela L, Aikiä M, Stenbäck U, et al. More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome. Epilepsy Res 2007;73-122-8.
Alpman A, Serdaroğlu G, Çoğulu O, Gökben S, Özkınay F. Ring chromosome 20 syndrome with intractable epilepsy. Dev Med Child Neurol 2005;47:343-6.
Gomes Mda M, Lucca I, Bezerra SA, Llerena J Jr, Moreira, DM. Epilepsy and ring chromosome 20: case report. Arq Neuropsiquiatr. 2002;60:631-5.
Garcia DM, Ortiz R, Gomez A, Barriuso E. Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report. Epilepsia 2001;42:1607–10.
Vignoli A, Canevini MP, Darra F, La Selva L, Fiorini E, Piazzini A, et al. Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. Epilepsia 2009;50:2420–7.
Chawla J, Sucholeiki R, Jones C, Silver K. Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature. J Child Neurol 2002;17:778–80.
Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F. Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. Epileptic Disord 2008;10:254–9.