Cortical Dysplasia and Epilepsy in a Patient with Thrombocytopenia-Absent Radii (TAR) Syndrome
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Dosyalar
Tarih
2011
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Türk Nöroloji Dergisi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Öz: “Thrombocytopenia-absent radii (TAR)” sendromu her iki başparmak varlığına rağmen bilateral radius yokluğu ve trombositopeni ile karakterizedir. TAR sendromlu hastalarda alt ekstremite tutulumu, kardiyak, gastrointestinal, renal ve genital anormallikler de görü lebilir. Ayrıca bazı hastalarda nörolojik anormallikler olarak; epilepsi, öğrenme güçlüğü, intrakraniyal vasküler malformasyonlar, sen sörinöral işitme kaybı, korpus kallosum hipoplazisi ve serebellar disgenezi bildirilmiştir. TAR sendromu ve kortikal displazi birlikteliği daha önceden bildirilmemiştir. Biz bu yazımızda sağ pariyetal displaziye bağlı fokal epilepsisi olan TAR sendromlu bir olguyu sunduk.
Abstract: Thrombocytopenia-absent radii (TAR) syndrome is characterized by bilateral absence of the radii in the presence of both thumbs and thrombocytopenia. Lower limb involvement and cardiac, gastrointestinal, renal, and genital abnormalities may also be seen in the patients with TAR syndrome. Although epilepsy, learning difficulties, intracranial vascular malformations, sensorineural hearing loss, hypoplasia of the corpus callosum, and cerebellar dysgenesis as neurological abnormalities have been reported in a few patients, there is no previous report of a patient with TAR syndrome and cerebral cortical dysplasia. Here we report a patient with TAR syndrome who suffered from focal epilepsy due to right parietal dysplasia.
Abstract: Thrombocytopenia-absent radii (TAR) syndrome is characterized by bilateral absence of the radii in the presence of both thumbs and thrombocytopenia. Lower limb involvement and cardiac, gastrointestinal, renal, and genital abnormalities may also be seen in the patients with TAR syndrome. Although epilepsy, learning difficulties, intracranial vascular malformations, sensorineural hearing loss, hypoplasia of the corpus callosum, and cerebellar dysgenesis as neurological abnormalities have been reported in a few patients, there is no previous report of a patient with TAR syndrome and cerebral cortical dysplasia. Here we report a patient with TAR syndrome who suffered from focal epilepsy due to right parietal dysplasia.
Açıklama
Yıl: 2011Cilt: 17Sayı: 1ISSN: 1301-062X / 1309-2545Sayfa Aralığı: 55 - 57Metin Dili:İngilizce
Anahtar Kelimeler
Kaynak
Türk Nöroloji Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
17
Sayı
1
Künye
KAMIŞLI Ö,SAYGI S (2011). Cortical Dysplasia and Epilepsy in a Patient with Thrombocytopenia-Absent Radii (TAR) Syndrome. Türk Nöroloji Dergisi, 17(1), 55 - 57.
