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Objective: To report the increasing frequency with which temporal anteroinferior encephalocele is a cause of adult temporal lobe epilepsy, to illustrate the clinical and imaging characteristics of this condition, and to report its surgical treatment in a series of 23 adult patients. Methods: Epilepsy patients diagnosed with temporal anteroinferior encephalocele from January 2006 to December 2013 in a national epilepsy reference center were included in this noninterventional study. Results: Twenty-three epilepsy patients (14 female, mean age 43.8 years) were diagnosed with temporal anteroinferior encephalocele in our institute. Thirteen patients had ≥2 encephaloceles; 7 cases presented bilaterally. The estimated frequency of this condition was 0.3% among MRI examinations performed due to newly diagnosed epilepsy (n = 6) and 1.9% among drug-resistant patients referred to our center (n = 17). Nine patients with local encephalocele disconnection (n = 4) or anterior temporal lobectomy and amygdalohippocampectomy (n = 5) have become seizure-free (Engel 1) for a mean 2.8 years (range 3 months–6.2 years) of follow-up. Three patients with local encephalocele disconnection were almost seizure-free or exhibited worthwhile improvement. Histologically, all 12 surgical patients had gliosis at the base of the encephalocele; some had cortical laminar disorganization (n = 5) or mild hippocampal degeneration (n = 1). Conclusions: The possibility of a temporal encephalocele should be considered when interpreting MRI examinations of patients with medically intractable focal epilepsy. These patients can significantly benefit from unitemporal epilepsy surgery, even in cases with bilateral encephaloceles.

Objective: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1 [EPM1]) homozygous for the dodecamer expansion mutation in the cystatin B (CSTB) gene. Methods: The study population consisted of 66 (33 men and 33 women) patients with genetically confirmed EPM1 homozygous for the CSTB expansion mutation for whom the sizes of the expanded alleles were determined. The clinical evaluation included videorecorded Unified Myoclonus Rating Scale and retrospectively collected medical history. The navigated transcranial magnetic stimulation test was used to determine motor threshold (MT) and silent period (SP) of the motor cortex. Results: An earlier age at onset for EPM1 and longer disease duration were associated with more severe action myoclonus, lower performance IQ, increased MT, and prolonged SP. The number of dodecamer repeats in CSTB alleles varied between 38 and 77. On average, the size of the longer expanded alleles of patients was independently associated with MT, but exerted only a modulating effect on age at onset, myoclonus severity, and SP. Conclusions: As a group, earlier disease onset and longer duration are associated with more severe phenotype. Even though the vast majority of patients with EPM1 have a uniform genetic mutation, the actual size of the longer CSTB expansion mutation allele is likely to have a modulating effect on the age at disease onset, myoclonus severity, and cortical neurophysiology.

Objective: To evaluate possible changes in the gray matter volume of patients with Unverricht–Lundborg disease (EPM1) compared with healthy controls. Methods: Thirty-four genetically verified patients with EPM1 and 30 healthy controls matched for age and sex underwent MRI (T1-, T2-, fluid-attenuated inversion recovery-, and T1-weighted 3-dimensional images). T1-weighted 3-dimensional images were analyzed with voxel-based morphometry (VBM) to compare the regional differences in gray matter volumes between patients and controls. The patients with EPM1 were also clinically evaluated for myoclonus severity using the Unified Myoclonus Rating Scale. Results: VBM analysis revealed atrophy in the bilateral primary, premotor, and supplementary motor cortex. The thalamus and precuneus were also bilaterally affected. No infratentorial changes were detected in the group analysis. Conclusion: The cortical motor areas of the brain are particularly affected in EPM1, correlating with the motor symptoms of this disease. The combination of detailed imaging with neurophysiologic evaluation may help to reveal the pathogenesis of Unverricht–Lundborg disease.

The authors studied prospectively the effects of thiopental anesthesia on seizure control, hemodynamics, and the course of intensive care in 10 patients with refractory status epilepticus. Clinical and electrophysiological seizures were terminated in every patient. Hemodynamically, thiopental was well tolerated, but slow recovery from anesthesia prolonged the need for intensive care.

The structural damage in the left hippocampus measured by volumetric MRI was shown to correlate with the impairment of verbal memory performance in chronic left-sided temporal lobe epilepsy. [1] In addition to volumetric measurements, MRI T2 relaxometry was suggested to provide a sensitive quantitative means of assessing the degree of hippocampal pathology in temporal lobe epilepsy. [2] We showed earlier in separate patient populations that patients with partial epilepsy of unknown etiology exhibit subtle verbal memory dysfunction measured by neuropsychological tests [3] and mild hippocampal damage measured by MRI volumetry [4] already at the time of diagnosis. There are no data of the correlation of MRI-based quantitative measurements of hippocampus with the memory performance in newly diagnosed patients. We measured hippocampal volumes and T2 relaxation times using a 1.5-T MRI imager in …

We studied the antiepileptic potency of vigabatrin (gamma-vinyl GABA, GVG) as an open trial in a group of 36 mentally handicapped patients with drug-resistant epilepsy (30 had seizures of partial onset and 6 had primary generalized [PG] tonic-clonic convulsions). With this treatment, 13 (43%) of the patients with seizures of partial onset and 2 (33%) with PG had more than 50% reduction in seizure frequency. The antiepileptic effect appeared during the first month of therapy and continued throughout the 7-month study. The side effects were mild: tiredness, aggressiveness, and ataxia. Other antiepileptic drugs remained at baseline levels during GVG therapy. GVG did not alter EEG recordings. Our results suggest that GVG is effective for treatment of intractable epilepsy, especially the partial type, in mentally retarded patients. Longer follow-up is needed, however, to determine that the clinical effect is maintained and that no severe side effects appear.