Ailesel epilepsi, motor ve/veya zihinsel yetersizlikli çocuklarda klinik, laboratuvar ve pedigri incelemeleri
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Tarih
2015
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Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi
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info:eu-repo/semantics/openAccess
Özet
Bu çalışmada ailesel epilepsi, zihinsel yetersizlik, bilişsel gelişimde gecikme ve/veya motor gerilik tanıları olan ve üç kuşak soyunun en az birinde epilepsi, zihinsel yetersizlik, bilişsel gelişimde gecikme veya motor gerilik saptanan 35 vaka prospektif olarak değerlendirildi. Amacımız akraba evliliğinin sık olduğu ülkemizde ailesel epilepsi ve/veya zihinsel yetersizlik/bilişsel gelişimde gecikmesi olan vakaların soyağacı, klinik ve laboratuvar bulgularını inceleyerek etyolojide rol oynayan faktörleri ve soyağaçlarının olası kalıtım paternlerini belirlemektir. Çalışmaya, Ocak 2013-Kasım 2014 tarihleri arasında Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi çocuk nörolojisi polikliniğine müracat eden ve ailesel epilepsi ve/veya zihinsel yetersizlik/bilişsel gelişimde gecikme ve/veya motor gerilik olan 35 vaka alındı. Vakalar demografik veriler, şikayet, perinatal öykü, anne-baba akrabalığı, ailede benzer hastalık öyküsü, konvülziyon varlığı, motor-mental gelişim açısından incelendi. Tüm vakaların ayrıntılı fizik ve nörolojik muayeneleri yapıldı. Vakaların tümünden soyağacı çıkarıldı. Etyolojiyi ve eşlik edebilecek ilave hastalıkları saptanmak amacıyla tüm vakalardan hematolojik ve biyokimyasal tetkiklere ek olarak serum B12 vitamini ve folat düzeyleri, tandem kütle spektrometri, metabolik hastalık taraması, beyin manyetik rezonans görüntüleme, elektroensefalografi, görsel uyarılmış potansiyel, işitsel beyin sapı uyarılmış potansiyel ve zeka testi incelemeleri yapıldı. Gerekli görülen vakalarda toksoplazmozis, rubella, sitomegalovirüs, herpes simpleks virüs (TORCH) enfeksiyonlar için serum markırları, idrarda organik asit profili, bilgisayarlı beyin tomografisi ve batın ultrasonografisi yapıldı. Vakaların 20'si (%57,2) erkek ve 15'i (%42,8) kızdı (Erkek/Kız:1,33). Vakaların yaş ortalamaları 6,46±3.99 yıl idi. Çalışmaya dahil edilen vakalar üç gruba ayrıldı. Grup 1: sadece epilepsisi olan vakalar; grup 2: zihinsel yetersizlik/ bilişsel gelişimde gecikme olan vakalar; grup 3: epilepsi ve zihinsel yetersizlik/bilişsel gelişimde gecikme birlikteliği olan vakalardan oluşmaktaydı. Grup 1'de beş vaka vardı. Vakaların yaş ortalamaları 8,08±3,05 yıl idi. Vakaların ikisi (%40) erkek, üçü (%60) kızdı. Erkek/Kız oranı 0,66 idi. Vakaların birinde (%20) anne-baba arasında 1. yeğen evliliği vardı. İkisinin (%40) anne-babası aynı köydendi. Geriye kalan iki vakada ise (%40) ise anne-baba arasında akrabalık yoktu. İki vakada ailede benzer hastalık nedeniyle ölüm öyküsü, bir vakada düşük öyküsü vardı. Grup 1'deki vakaların soyağaçları incelendiğinde üç (%60) vakada otozomal resesif kalıtım, bir (%20) vakada otozomal dominant kalıtım, diğer bir (%20) vakada ise büyük olasılıkla otozomal resesif kalıtım, düşük olasılıkla kromozomal kalıtım ya da otozomal dominant kalıtım olabileceği düşünüldü. Vakaların dördünde (%80) jeneralize epilepsi, birinde (%20) parsiyel epilepsi vardı. Grup 2'de 15 vaka vardı. Vakaların yaş ortalamaları 6,66±4,45 yıl idi. Vakaların yedisi kız (%46,6) ve sekizi (%53,4) erkekti. Erkek/kız oranı 1,14 idi. Vakaların üçünün (%20) anne-babası arasında 1. yeğen evliliği vardı. Altısının (%40) anne-babası aynı köydendi. Diğer altı vakanın (%40) anne-babası arasında akrabalık yoktu. Vakaların üçünde düşük, üçünde benzer hastalık nedeniyle ölüm öyküsü vardı. Grup 2'deki vakaların soyağaçları incelendiğinde dokuz (%60) vakada otozomal resesif kalıtım, üç (%20) vakada otozomal dominant kalıtım, olabileceği düşünüldü. Bir vakanın (%6,7) yüksek ihtimalle otozomal resesif, düşük olasılıkla da kromozomal kalıtım ya da otozomal dominant kalıtım, bir vakada (%6,7) anne-baba arasında akrabalık olmadığı için mitokondrial hastalık, kromozom hastalığı ve otozomal resesif kalıtım olasılıkları düşünüldü. Diğer bir vakanın (%6,7) otozomal resesif ya da X'e bağlı resesif kalıtım olabileceği düşünüldü. Grup 3'te 15 vaka vardı. Vakaların yaş ortalamaları 5,72±3,83 yıl idi. Onu (%66,7) erkek, beşi (%33,3) kız idi. Erkek/kız oranı 2 idi. Vakaların yedisinin (%46,7) anne-babası arasında 1. yeğen evliliği vardı. İkisinin (%13,3) anne-babası arasında bir ileri 1. yeğen evliliği vardı. Dördünün (%26,7) anne-babası aynı köydendi. İkisinin (%13,3) ise anne babası arasında akrabalık yoktu. Üç vakada düşük, iki vakada benzer hastalık nedeniyle ölüm, diğer iki vakada ise düşük ve benzer hastalık nedeniyle ölüm öyküsü birlikteliği vardı. Vakaların soyağaçları incelendiğinde 14 (%93,3) vakada otozomal resesif kalıtım bir (%6,7), vakada otozomal dominant kalıtım olabileceği düşünüldü. Vakaların 11'inde (%73,4) jeneralize, ikisinde (%13,3) parsiyel, diğer ikisinde (%13,3) parsiyel başlayıp jeneralizasyon gösteren, epilepsi vardı. Sonuç olarak; epilepsi ve/veya zihinsel yetersizlik/bilişsel gelişimde gecikmesi olan vakalarda aile öyküsünün ayrıntılı bir şekilde sorgulanması, kalıtım biçimini belirlemek amacıyla en az üç kuşak aile ağacının çıkarılması ve gerekli görülen vakalarda hastalığa özel laboratuvar, kraniyal görüntüleme incelemelerinin ve ileri genetik analizlerin yapılması ve ailelere genetik danışma açısından bilgi verilmesi gerektiğini düşünüyoruz.
In this study, 35 patients diagnosed with familial epilepsy, intellectual disability and/or motor retardation with at least one member in their three generations displaying epilepsy and/or intellectual disability and/or motor retardation have been evaluated, prospectively. The aim of the study is to determine probable inheritance patterns of pedigrees and the factors affecting etiology of epilepsy and/or intellectual disability by analyzing the pedigrees and clinical and laboratory findings in patients with familial epilepsy and/or intellectual disability and/or motor retardation in our county where consanguineous marriage are common. The study has been performed at Necmettin Erbakan University, Faculty of Medicine, Department of Pediatric Neurology, from January 2013 to November 2014. The patients were examined for demographical data, complaints on admission, perinatal events, consanguinity between parents and presence of similar disease in the family, convulsion and motor-mental development. Detailed physical and neurological examination were perfomed in all patients. A pedigree for each patient has been established in all patients. In order to detect etiological or other accompanying abnornalities, all patients have been tested for hematological and biochemical laboratory tests, serum vitamin B12 and folate levels, tandem-mass spectrometry, metabolic disease screening, brain magnetic resonance imaging, electroencephalography, visual evoked potential, brainstem auditory evoked response and intelligence test. If necessary, further investigations such as serum markers for TORCH group infections, organic acid profile in urine, computerized cranial tomography and abdominal ultrasonography have been performed. In this study, 20 (57.2%) males and 15 (42.8%) females were enrolled (male/female:1.33). The mean age of the patients was 6.46±3.99 years. The cases included in the study have been divided into three groups. Group 1 included patients with epilepsy; group 2 included patients diagnosed with only ıntellectual disability/global developmental delay; and group 3 includes patients with epilepsy and intellectual disability/global developmental delay together. There were five patients in group 1. The mean age of the patients was 8.08±3.05 years. Two (40%) were males and three (60%) were females. Male/female ratio was 0.66. First cousin marriage was present in one (20%). Parents of two (40%) patients were from the same village. There were two (40%) patients without any consanguineous marriage history. Exitus history was present in two patients and abortus history was present in one patient. In the analysis of patients' pedigrees in group 1, it has been suggested that three (60%) patients could have autosomal recessive inheritance, one patients (20%) could have autosomal dominant inheritance and the other patient (20%) could have autosomal recessive, autosomal dominant or chromosomal inheritance. Four (80%) patients had generalized epilepsy and one (20%) patient had partial epilepsy. There were 15 patients in group 2. The mean age of the patients was 6.66±4.45 years. Eight (53.4%) were males and seven (46.6%) were females. Male/female ratio was 1.14. First cousin marriage was present in three (20%) patients. In six (40%) patients the parents were from the same village. There were six (40%) patients without any consanguineous marriage history. Exitus history was present in three patients and abortus history was present in the other three patients. In the analysis of patients' pedigrees in group 2, it has been suggested that nine (60%) patients could have autosomal recessive inheritance and three (20%) patients could have autosomal dominant inheritance. One (6.7%) patient could have autosomal recessive, choromosomal or autosomal dominant inheritance. One (6.7%) patient could have mitochondrial inheritance, chromosomal abnormality or autosomal recessive inheritance and the other (6.7%) patient could have autosomal recessive or X-linked recessive inheritance. There were 15 patients in group 3. The mean age of the patients was 5.72±3.83 years. Ten (66.7%) were males and five (33.3%) were females. Male/female ratio was 2. First cousin marriage was present in seven (46.7%) patients. First cousins once removed marriage was present in two (13.3%) patients. Parents of four (26.7%) patients were from the same village. There were two (13.3%) patients without any consanguineous marriage history. Exitus history was present in two patients, abortus history was present in three patients and both of exitus and abortus history was present in two patients. In the analysis of patients' pedigrees in group 3, it has been suggested that 14 patients could have autosomal recessive, one patient could have autosomal dominant inheritance. Eleven patients had generalized epilepsy, two patients had partial epilepsy and the other two patients had a partial epilepsy with secondary generalization. In conclusion, we suggest that, in patients with epilepsy and/or intellectual disability, a detailed family history should be inquired and at least three generation pedigree analaysis should be performed to determine probable inheritance patterns. Additionally we think that spesific laboratory examination, cranial imaging and advanced genetic analaysis should be performed in required patients and genetic counseling should be given to the parents.
In this study, 35 patients diagnosed with familial epilepsy, intellectual disability and/or motor retardation with at least one member in their three generations displaying epilepsy and/or intellectual disability and/or motor retardation have been evaluated, prospectively. The aim of the study is to determine probable inheritance patterns of pedigrees and the factors affecting etiology of epilepsy and/or intellectual disability by analyzing the pedigrees and clinical and laboratory findings in patients with familial epilepsy and/or intellectual disability and/or motor retardation in our county where consanguineous marriage are common. The study has been performed at Necmettin Erbakan University, Faculty of Medicine, Department of Pediatric Neurology, from January 2013 to November 2014. The patients were examined for demographical data, complaints on admission, perinatal events, consanguinity between parents and presence of similar disease in the family, convulsion and motor-mental development. Detailed physical and neurological examination were perfomed in all patients. A pedigree for each patient has been established in all patients. In order to detect etiological or other accompanying abnornalities, all patients have been tested for hematological and biochemical laboratory tests, serum vitamin B12 and folate levels, tandem-mass spectrometry, metabolic disease screening, brain magnetic resonance imaging, electroencephalography, visual evoked potential, brainstem auditory evoked response and intelligence test. If necessary, further investigations such as serum markers for TORCH group infections, organic acid profile in urine, computerized cranial tomography and abdominal ultrasonography have been performed. In this study, 20 (57.2%) males and 15 (42.8%) females were enrolled (male/female:1.33). The mean age of the patients was 6.46±3.99 years. The cases included in the study have been divided into three groups. Group 1 included patients with epilepsy; group 2 included patients diagnosed with only ıntellectual disability/global developmental delay; and group 3 includes patients with epilepsy and intellectual disability/global developmental delay together. There were five patients in group 1. The mean age of the patients was 8.08±3.05 years. Two (40%) were males and three (60%) were females. Male/female ratio was 0.66. First cousin marriage was present in one (20%). Parents of two (40%) patients were from the same village. There were two (40%) patients without any consanguineous marriage history. Exitus history was present in two patients and abortus history was present in one patient. In the analysis of patients' pedigrees in group 1, it has been suggested that three (60%) patients could have autosomal recessive inheritance, one patients (20%) could have autosomal dominant inheritance and the other patient (20%) could have autosomal recessive, autosomal dominant or chromosomal inheritance. Four (80%) patients had generalized epilepsy and one (20%) patient had partial epilepsy. There were 15 patients in group 2. The mean age of the patients was 6.66±4.45 years. Eight (53.4%) were males and seven (46.6%) were females. Male/female ratio was 1.14. First cousin marriage was present in three (20%) patients. In six (40%) patients the parents were from the same village. There were six (40%) patients without any consanguineous marriage history. Exitus history was present in three patients and abortus history was present in the other three patients. In the analysis of patients' pedigrees in group 2, it has been suggested that nine (60%) patients could have autosomal recessive inheritance and three (20%) patients could have autosomal dominant inheritance. One (6.7%) patient could have autosomal recessive, choromosomal or autosomal dominant inheritance. One (6.7%) patient could have mitochondrial inheritance, chromosomal abnormality or autosomal recessive inheritance and the other (6.7%) patient could have autosomal recessive or X-linked recessive inheritance. There were 15 patients in group 3. The mean age of the patients was 5.72±3.83 years. Ten (66.7%) were males and five (33.3%) were females. Male/female ratio was 2. First cousin marriage was present in seven (46.7%) patients. First cousins once removed marriage was present in two (13.3%) patients. Parents of four (26.7%) patients were from the same village. There were two (13.3%) patients without any consanguineous marriage history. Exitus history was present in two patients, abortus history was present in three patients and both of exitus and abortus history was present in two patients. In the analysis of patients' pedigrees in group 3, it has been suggested that 14 patients could have autosomal recessive, one patient could have autosomal dominant inheritance. Eleven patients had generalized epilepsy, two patients had partial epilepsy and the other two patients had a partial epilepsy with secondary generalization. In conclusion, we suggest that, in patients with epilepsy and/or intellectual disability, a detailed family history should be inquired and at least three generation pedigree analaysis should be performed to determine probable inheritance patterns. Additionally we think that spesific laboratory examination, cranial imaging and advanced genetic analaysis should be performed in required patients and genetic counseling should be given to the parents.
Açıklama
Anahtar Kelimeler
Soyağacı, Pedigree, Ailesel epilepsi, Familial epilepsy,, Zihinsel yetersizlik, Intellectual disability, Motor gerilik, Motor retardation
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Ünal, G. (2015). Ailesel epilepsi, motor ve/veya zihinsel yetersizlikli çocuklarda klinik, laboratuvar ve pedigri incelemeleri. (Yayınlanmamış tıpta uzmanlık tezi) Necmettin Erbakan Üniversitesi, Meram Tıp Fakültesi Dahili Tıp Bilimleri Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Konya.
