Surgical treatment for medically refractory focal epilepsy in a patient with fragile X syndrome.

Abstract

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 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: Cynthia Kenmuir, Mark Richardson, Gena Ghearing
• Journal: Brain & development (Brain Dev) Vol. 37 Issue 9 Pg. 916-8 (Oct 2015) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 25857623 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Chemical References

• FMR1 protein, human
• Fragile X Mental Retardation Protein

Topics

• Adult
• Drug Resistant Epilepsy (complications, surgery)
• Epilepsies, Partial (complications, surgery)
• Epilepsy, Temporal Lobe (complications, surgery)
• Fragile X Mental Retardation Protein (genetics)
• Fragile X Syndrome (complications, genetics)
• Humans
• Male
• Mutation
• Young Adult