Cortical dysplasia and epilepsy in a patient with Thrombocytopenia-Absent Radii (TAR) syndome

摘要

Thrombocytopenia - absent radii (TAR) syndrome is characterized by bilateral absence of the radii in the presence of both thumbs and thrombocytopenia. Lower limb involvement, 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 a 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.