An encephalocele is a pathological brain herniation caused by osseous dural defects. Encephaloceles are known to be regions of epileptogenic foci. We describe the case of a 44-year-old woman with refractory epilepsy associated with a frontal skull base encephalocele. Epilepsy surgery for encephalocele resection was performed; however, the epilepsy was refractory. A second epilepsy surgery for frontal lobectomy using intraoperative electroencephalography was required to achieve adequate seizure control. Previous reports have shown that only encephalocele resection can result in good seizure control, and refractory epilepsy due to frontal lobe encephalocele has rarely been reported. To the best of our knowledge, this is the first report of frontal encephalocele plus epilepsy in which good seizure control using only encephalocele resection was difficult to achieve. Herein, we describe the possible mechanisms of encephalocele plus epilepsy and the surgical strategy for refractory epilepsy with encephalocele, including a literature review.
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http://dx.doi.org/10.3390/brainsci13010115 | DOI Listing |
Epilepsia
January 2025
Department of Neurology, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
Objective: Temporal encephaloceles (TEs) are seen in patients with drug-resistant epilepsy (DRE); yet they are also common incidental findings. Variability in institutional pre-surgical epilepsy practices and interpretation of epileptogenic network localization contributes to bias in existing epilepsy cohorts with TE, and therefore the relevance of TE in DRE remains controversial. We sought to estimate effect sizes and sample sizes necessary to demonstrate clinically relevant improvements in seizure outcome with different surgical approaches.
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January 2025
Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Epilepsy Behav
November 2024
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Epilepsia Open
December 2024
Department of Neurosurgery, Corewell Health William Beaumont University Hospital Neuroscience Center, Royal Oak, Michigan, USA.
J Hum Genet
January 2025
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis. Biallelic TXNDC15 variants have been reported in six individuals of Meckel syndrome (MKS) with perinatal lethal phenotypes, but have not been reported in patients with Joubert syndrome (JS). Here, we describe a 1-year-old female patient with compound heterozygous TXNDC15 variants demonstrating cerebellar vermis hypoplasia with the molar tooth sign, mild holoprosencephaly, and cortical abnormalities.
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