Refractory temporal lobe epilepsy in patients with mosaic turner syndrome: two case reports and literature review

Abstract

Turner syndrome (TS) is one of the most common sex chromosome abnormalities in women, but there are only a few case reports of patients with TS who have epilepsy or seizures. Here, we report two additional cases with drug-resistant temporal lobe epilepsy (TLE) and TS mosaicism. Patient #1 is a 22-year-old female with drug-resistant TLE whose karyotype analysis showed that 84% of interphase cells had (45,X) genotype and brain magnetic resonance imaging (MRI) initially reported as normal showed developmental left temporal lobe encephalocele. She underwent left temporal lobectomy, and she is seizure free for 10-year postoperative follow-up period. Patient #2 is a 49-year-old female who has TLE with normal brain MRI. The karyotype analysis showed that 2/30 of metaphase cells had (45, X) genotype. In addition, 11 cases of epilepsy associated with TS were determined through PubMed. The clinical characteristics of all are reviewed.