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.
