Abstracts

Rationale: Medication resistant temporal lobe epilepsy occurs in a small population of patients with fragile X syndrome. We present the case of a 24-year-old man with medically refractive temporal lobe epilepsy and Fragile X syndrome who underwent left anterior temporal lobectomy resulting in cessation of seizures.Methods: Our patient was diagnosed with fragile X syndrome early in childhood and had genetic testing that revealed a fully mutated, fully methylated FMR1 gene resulting in 572 CGG repeats. Around age 10, he began having brief episodes of staring associated with reduced responsiveness that were initially well controlled with depakote monotherapy. Over two years, he developed additional right sided weakness following his staring episodes, which increased in frequency and severity until he developed generalized tonic-clonic seizures despite combination treatment with depakote, lamotrigine and zonisamide. Several interictal EEGs had demonstrated only mild diffuse background slowing without epileptiform discharges. Given his medically refractory epilepsy and 1.5T MRI with asymmetric hippocampi, he was referred for prolonged video EEG monitoring.Results: Interictal EEG while off seizure medications revealed left temporal sharp waves and slowing. Two of his typical seizures were captured, each with onset in the left temporal region. Additionally, two subclinical seizures and three seizures out of sleep were recorded all with onset out of the left temporal lobe. Repeat 3T MRI was consistent with left mesial temporal sclerosis (Figure 1). After discussing the case in our multidisciplinary surgical epilepsy conference, he was referred for presurgical evaluation including neuropsychologic testing and Wada. He underwent an asleep left anterior temporal lobectomy, sparing the superior temporal gyrus. Pathology showed neuronal loss and gliosis in the hippocampus and amygdala. On follow up 5 months after surgery, the patient has not experienced a seizure. He is described by his parents as less perseverative and less restless. Follow up neuropsychologic testing two months after surgery demonstrated stable to slight improvement in his scores.Conclusions: We have presented the case of a 24 year-old-man with fragile X syndrome who underwent successful left anterior temporal lobectomy for the treatment of medically refractive epilepsy who is now seizure free without further functional impairment. This case report demonstrates the feasibility of surgical treatment for a patient with comorbid fragile X syndrome and mesial temporal sclerosis.