title: Surgical treatment for medically refractory focal epilepsy in a patient with fragile X syndrome.
abstract: BACKGROUND
  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 refractory 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 with a fully mutated, fully methylated FMR1 gene resulting in 572 CGG repeats. He developed seizures initially controlled with Depakote monotherapy, but progressed to become medically refractive to combination treatment with Depakote, lamotrigine and zonisamide. Prolonged video EEG monitoring revealed interictal left temporal sharp waves and slowing as well as subclinical and clinical seizures, each with left temporal onset. 3T MRI was consistent with left mesial temporal sclerosis. After discussing the case in our multidisciplinary surgical epilepsy conference, he was referred for presurgical evaluation including neuropsychological testing and Wada testing.
  
  
  RESULTS
  He underwent an asleep left anterior temporal lobectomy, sparing the superior temporal gyrus. Pathology showed neuronal loss and gliosis in the hippocampus and amygdala. Twelve months after surgery, the patient has not experienced a seizure. He is described by his parents as less perseverative and less restless.
  
  
  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 refractory 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.
authors: Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. Electronic address: kenmuircl@upmc.edu.
authors: Cynthia
authors: C
authors: Kenmuir
authors: Department of Neurosurgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors: Mark
authors: M
authors: Richardson
authors: Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors: Gena
authors: G
authors: Ghearing
mesh_terms: D000328:Adult; D000069279:Drug Resistant Epilepsy / Q000150:complications / Q000601:surgery; D004828:Epilepsies, Partial / Q000150:complications / Q000601:surgery*; D004833:Epilepsy, Temporal Lobe / Q000150:complications / Q000601:surgery*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Epilepsy; FMR1; Fragile X; Mesial temporal sclerosis; Temporal lobectomy