TY  - JOUR
T1  - Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: Piridoksin Bağımlı Epilepsi
TT  - A Treatable Cause of Refractory Epilepsy: Pyridoxine-Dependent Epilepsy
AU  - Serin, Hepsen Mine
AU  - Yılmaz, Sanem
AU  - Şimşek, Erdem
AU  - Kanmaz, Seda
AU  - Aykut, Ayça
AU  - Durmaz, Asude
AU  - Aktan, Gül
AU  - Tekgül, Hasan
AU  - Gökben, Sarenur
PY  - 2020
DA  - November
DO  - 10.12956/tchd.568456
JF  - Türkiye Çocuk Hastalıkları Dergisi
JO  - Türkiye Çocuk Hast Derg
PB  - T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi
WT  - DergiPark
SN  - 1307-4490
SP  - 461
EP  - 464
VL  - 14
IS  - 6
LA  - tr
AB  - Amaç: Piridoksin bağımlı epilepsi, tipik olarak bebeklik veyaerken çocukluk döneminde inatçı nöbetler ile seyreden nadir görülen otozomalresesif bir hastalıktır. Nöbetler geleneksel antiepileptik tedavilere dirençliolup, farmakolojik dozda piridoksine yanıt verir. Bu çalışmada PBE tanısı ileizlediğimiz altı hastanın klinik ve genetik özelliklerini sunmayı amaçladık.Gereç ve Yöntemler: Ege Üniversitesi Tıp Fakültesi Çocuk Nöroloji BilimDalı’nda Piridoksin bağımlı epilepsi tanısı ile izlenen altıolgunun klinik ve genetik özellikleri ile prognozu retrospektif olarakdeğerlendirildi.Bulgular: Çalışmaya alınan hastaların 5’i erkek, 1’i kız olup, yaşortalaması 6,83±3,71 yıl idi. Nöbet başlangıç yaşı ortalama 22,33± 31,77(3-90gün) olup, bir hasta (n:4) hariç diğerleri yenidoğan döneminde başlamıştı.Üç hastada fokal motor nöbet, 2 hastada jeneralize motor nöbet ve 1 hastada epileptikspazm izlendi. Hastaların vitamin B6tedavisi bir hasta hariç erken dönemde başlandı. Erken dönem tedavi başlananbir hasta dışında diğer hastalarda mental retardasyon, stereotipik hareketlerve otistik bulgular izlendi. Yapılan moleküler genetik analizde 5 farklımutasyon saptanmıştır [2 olguda homozigot c.1597delG (p.Ala533ProfsTer18), 1olguda homozigot c.781 A>G (p.Met261Val), 1 olguda birleşik heterozigotc.328C>T (p.Arg110Ter)/c.1566-1G>T, 1 olguda heterozigot c.328C>T(p.Arg110Ter) ve 1 olguda heterozigot c.1356 A>C (p.Lys452Asn)] .Sonuç: PBE tedavi edilebilir epilepsi nedenlerinden biri olupaçıklanamayan dirençli nöbetleri olan bebeklerde mutlaka düşünülmeli ve terapotik dozdapiridoksin tedavisine başlanmalıdır.
KW  - Piridoksin bağımlı epilepsi
KW  - ALDH7A1
KW  - nöbet
N2  - Objective: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents with refractory seizures in infancy or early childhood. Seizures are resistant to conventional antiepileptic treatments and responsive to pharmacologic doses of pyridoxine. In this study, we aimed to present the clinical and genetic features ofsix patients followed up in our clinic with PDE diagnosis.Material and Methods: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents with refractory seizures in infancy or early childhood. Seizures are resistant to conventional antiepileptic treatments and responsive to pharmacologic doses of pyridoxine. In this study, we aimed to present the clinical andgenetic features of six patients followed up in our clinic with PDE diagnosis.Results: Among six patients five were male and one was female. Mean age was 6.83 ± 3.71 years. The mean age of onset for seizures was 22.33 ± 31.77 (3-90 days). Seizures had started in the newborn period in all patients except one patient (n: 4). Three patients had focal motor seizures, 2 patients had generalized motor seizures and 1 patient had epileptic spasms. Vitamin B6 therapy was started in the early period except one patient. Mental retardation, stereotypicmovements and autistic findings were observed in the all patients except one patient who had received early treatment. Molecular geneticanalysis revealed 5 different mutations [homozygous c.1597delG (p.Ala533ProfsTer18) in 2 cases, homozygous c.781 A> G (p.Met261Val)in 1 case, compound heterozygous c.328C> T (p.Arg110Ter) / c.1566- 1G>T, 1 case heterozygous c.328C> T (p.Arg110Ter) and 1 caseheterozygous c.1356 A> C (p.Lys452Asn) ] .Conclusion: Pyridoxine-dependent epilepsy is a treatable cause of epilepsy and should come to mind in infants with unexplained refractory seizures. Treatment with a therapeutic dose of pyridoxine should be started promptly.
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UR  - https://doi.org/10.12956/tchd.568456
L1  - https://dergipark.org.tr/tr/download/article-file/1101781
ER  -