Rett sendromlu olguların elektrofizyolojik özellikleri
Electrophysiological characteristics in patients with rett syndrome
Yazar: SEMİH AYTA
Danışman: PROF. DR. A. EMRE ÖGE
İstanbul Üniversitesi / Sağlık Bilimleri Enstitüsü / Nörolojik Bilimler Ana Bilim Dalı / Elektrodiagnostik Nöroloji Bilim Dalı
Derece: Yüksek Lisans, 2006
Konu: Nöroloji = Neurology ; Psikiyatri = Psychiatry

Özet:
ÖZETAyta, Semih. Rett Sendromlu Olgular n Elektrofizyolojik Özellikleri.stanbul Üniversitesi Sa$l k Bilimleri Enstitüsü, Nörolojik Bilimler Anabilim Dal .Yüksek Lisans Tezi. stanbul. 2006.Anahtar Kelimeler: Rett Sendromu, Yayg n Geli2imsel Bozukluk, EEG,Elektroensefalografi, Epileptiform AktiviteBu çal 2mada klinik ve genetik olarak Rett sendromu tan s alm 2 12 k z olgunun,özellikle EEG bulgular n n incelenmesi ve sonuçlar n hastal k hakk ndayay nlanm 2 bilgiler e2li$inde de$erlendirilmesi amaçlanm 2t r.Çal 2maya al nan RS tan l 12 k z olgunun ya2lar 3 y l 1 ay-16 y l 8 ay aras nda,ortalama ya2 7 y l 1 ay bulunmu2tur.Olgular n öykülerinden ö$renilen ba2lama ya2 2-24 ay aras nda (ortalama 15 ay),çocuk nörolojisi poliklini$ine getirilme ya2lar ise 1.8-16.6 aras nda (ortalama 4.5ya2) olarak belirlenmi2tir.Epileptik nöbetlerin varl $ 9 (%75) olguda kaydedilmi2tir. Bu 9 olgudan 6's ndajeneralize konvülsiyonlar, 2'sinde ek olarak absanslar, 1'inde jeneralizekonvülsiyonlar ve miyokloniler tan mlanm 2t r. Nöbet öyküsü olan bu olgular ntümü AE al yordu.Sistemik, nörolojik, psikiyatrik muayene ve de$erlendirmeler ile tüm olgular nk zlarda görülen klasik RS tan kriterlerini kar2 lad klar saptanm 2t r.Gesell geli2im testi veya Denver geli2im tarama envanteri sonuçlar , olgular n dil,sosyalizasyon ve motor alanlarda a$ r düzeyde geri olduklar n göstermekteydi.Tüm olgular n rutin kan ve idrar incelemeleri normal s n rlar içinde, do$umsalmetabolik hastal k (DMH) tarama testleri normal bulundu.Kraniyal MR görüntülemeleri -bir olguda gözlenen kavum septum pelusidumvaryasyonu d 2 nda- normaldi.lk EEG incelemeleri yap ld $ s rada 10 olgunun II. evrede, 2 olgunun III. evredeoldu$u saptand .lk EEG'ler 5 olguda normal s n rlar içinde bulundu; temel aktiviteleri (TA) yeterliolan bu olgular n 4'ü inceleme s ras nda II. evrede, biri III. evredeydi.Ba2lang ç EEG'leri s ras nda 5'i II., biri III. evrede olmak üzere toplam 6 olgudasentral dikenler ve/veya mültipl dikenler saptand . Bu ilk EEG incelemeleridöneminde II. evrede olup sentral dikenler izlenen 5 olgudan 2'inde TA yeterli,3'ünde yetersiz bulundu. lk EEG'de sentral dikenleri olan III. evredeki olguda iseTA yetersizdi.lk EEG'si yap ld $ nda II. evrede olan bir olguda sentral dikenler yoktu.Bu olgunun IV. evredeki EEG'sinde, her iki fronto-sentral bölgelerde mültipl diken-yava2 dalgalar ile ayn bölgelerde 3.5-4 Hz frekans nda yava2 dalga dizilerisaptand . Ayn olgunun farkl iki dönemdeki bu EEG'lerinde TA yetersizdi.zlem süresinde evre II'den evre III'e geçen 4 olguda sentral dikenlerin devametti$i görüldü. Bu olgular n 2'sinde ayr ca seyrek jeneralize epileptiform de2arjlarizlendi.Rett sendromunun kesin tan s günümüzde genetik olarak mutasyonun gösterilmesiile konulmaktad r. Ancak klinisyenlerin genetik incelemeye yönlendirecekleriolgular n seçimi için bu hastal $ n tan kriterlerini ve klinik evrelemesini iyibilmeleri gerekmektedir. Destekleyici tan kriterleri aras nda, bu olgularda %50-90s kl $ nda görülen epileptik nöbetler ile hastal $ n evrelerine göre de$i2en EEGanormallikleri de say lmaktad r. RS'lu olgularda nöbetlerin varl $ veyayoklu$undan ba$ ms z olarak ortaya ç kan EEG bulgular n n saptanmas ,de$erlendirilmesi amac yla elektrografik takiplerin yap lmas n n hem klinik pratikteyard mc olaca$ , hem de bilimsel veri birikimi aç s ndan katk da bulunaca$kan s nday z.

Abstract:
ABSTRACTAyta, Semih. Electrophysiological Characteristics in Patients with RettSyndrome. Istanbul University The Institute of Medical Sciences. $stanbul. 2006.Key Words: Rett Syndrome, Pervasive Developmental Disorder, EEG,Electroencephalography, Epileptiform ActivityThis study aims to search the EEG findings of twelve (12) patients clinically andgenetically diagnosed to have Rett syndrome (RS) and to evaluate these resultsunder the scope of latest literature data.The ages of these 12 female patients with the diagnosis of RS ranged between 3years 1 month and 16 years 8 months, the average age was calculated to be 7 years1 month.The first signs of the syndrome develop between the 2nd-24th months, the averagebeing 15 months; and the children first apply to the neurology outpatient clinics atthe age of 1.8- 16.6 yrs, the average age being 4.5 yrs.Epileptic seizures were present in 9 of the 12 cases (%75). Among these 9 patients,6 had generalized convulsions, 2 of them additionally had absence seizures and oneof them had generalized convulsions along with myoclonic seizures. All of thesecases with the history of convulsions were on treatment with AEDs.The systemic, neurologic and physchiatric examinations and evaluations of these12 cases matched with the classical diagnostic criteria of RS in females.Gesell and Denver development tests applied to these 12 patients showed thatthese cases were severely retarded in terms of language, socialization and motorareas.The routine blood and urine analysis of our patients were all within normal limits,screening for inborn errors of metabolism were all negative.The cranial MR results of these 12 cases were all normal apart from one with thevariation of cavum septum pellusidum.When the first EEG recordings were obtained, 10 of these cases were evaluated tobe stage II, and the remaining 2 patients were stage III.The first EEG recordings of 5 patients were found to be normal, the backgroundactivity (BA) was appropriate of age. 4 of these patients were stage II and just oneof them was stage III.The remaining 6 patients found to have abnormalities in their first EEG recordingspresented with central spikes and/or multiple spikes. Five of these patients werestage II ,and just one of them was stage III. Among the stage II patients with centralspikes, 2 had appropriate BA and 3 had inappropriate BA of age. The only stage IIIpatient with central spikes had inappropriate BA of age.One of these patients was a stage II patient with no central spikes at the time offirst EEG recording. The EEG was repeated when the patient was at stage IV, bothfronto-central areas showed multiple spikes, slow waves and the same areasshowed 3.5-4 Hz frequency slow wave patterns. Both of the EEG's obtained showedinadequate background although recorded at different stages of the same patient.During the observation period, 4 cases proceeded from stage II to stage III, and thecentral spikes continued to be present. In addition, two of these cases seldomly hadgeneralized epileptiform changes.The definite diagnosis of Rett syndrome can be reached only when the geneticmutation is shown. However, the clinicians need to be aware of the diagnosticcriteria and the staging of this syndrome in order to accurately choose the rightpatient to undergo genetic work-up. The supporting diagnostic criteria is thefrequency (%50-90) of epileptic seizures in these patients and EEG abnormalitiesshowing variations according to the stage of the syndrome. EEG recordings shouldbe obtained in RS patients in spite of the absence or presence of seizures. The EEGfollow-up will be helpful for the clinical management of these patients as well asmaking an important contribution for the gathering of scientific information.