A Native Haitian Woman with Unverricht-Lundborg Disease.

Unverricht-Lundborg disease (ULD) is an autosomal recessive progressive myoclonic epilepsy. The prevalence is highest in specific European countries and North Africa. Affected individuals have myoclonic and tonic-clonic seizures and a variable degree of ataxia and cognitive impairment. We report a native Haitian woman with ULD who was wheelchair bound due to nearly continuous myoclonic seizures exacerbated by activity and emotional distress. The seizures and their dramatic increase with volitional activity were recorded during video electroencephalography monitoring. Rational antiepileptic drug therapy controlled the seizures well enough for the patient to achieve a level of independence she had not experienced in over 25 years.

Sutton's law in epilepsy: because that is where the lesion is.

Successful epilepsy surgery requires unambiguous identification of the epileptogenic zone. This determination may be a challenge when the pre-surgical evaluation yields conflicting data. We evaluated an adult patient with a right insular mass, but a seizure semiology, interictal EEG, and ictal EEG, suggesting left temporal lobe epilepsy. Resection of the mass, a ganglioglioma, resulted in seizure freedom and disappearance of interictal left temporal lobe epileptiform discharges. This case illustrates the principle that in localization-related epilepsy, the money is usually in the mass.

Patient beliefs about epilepsy and brain surgery in a multicultural urban population.

We assessed beliefs about epilepsy and brain surgery and the use of alternative epilepsy treatments in a culturally diverse population of people with epilepsy (PWE). Data were obtained from a structured questionnaire administered to 109 PWE treated at a single epilepsy center. Patients were born in 17 countries on five continents. Most patients identified culturally with the Caribbean (41%), United States (39%), or Latin America (9%). Sixty-nine percent of patients endorsed at least one of five stigma-related questions, and 77% used at least one alternative epilepsy treatment. Brain surgery was rated as having a mean dangerousness of 8.3 (on a scale of 1 to 10) among the 94 patients with no history of neurosurgery. In addition, 51% of these patients would not consider surgical treatment even if it were guaranteed to stop their seizures without causing deficits. Educational efforts aimed at reducing both the stigma associated with epilepsy and the fear of resective epilepsy surgery are needed.

Temporal lobe epilepsy does not impair visual perception.

Temporal lobe epilepsy (TLE) can impair interictal cognitive function. In the perceptual domain, previous psychophysical studies demonstrated specific deficits in auditory and tactile perception in patients with TLE. This study compared performance of 25 TLE subjects and 27 controls on two low-level, visual tasks: luminance discrimination and frequency discrimination. Both tasks were performed under a relatively easy and a relatively difficult condition, by adjusting the stimulus duration. TLE subjects performed as well as controls on both tasks at both stimulus durations. These results imply that interictal occipital lobe function, as reflected in performance on low-level visual tasks, is not impaired in TLE, consistent with functional imaging data. Furthermore, since TLE subjects performed normally while taking therapeutic doses of multiple AEDs, the data suggest that these AEDs do not impair visual perception.

Uncommon, exceptional and atypical: a case of frontal lobe epilepsy due to cortical dysplasia.

We report a case of frontal lobe epilepsy due to focal cortical dysplasia that included three independent unusual features. The patient, a 45-year-old, right-handed woman, had her first seizure at age 29, well into adulthood. Seizures had been easily controlled with medication for 15 years, then without provocation they became medically intractable during a single, identifiable day. Resection of the dysplastic tissue in the posterior dorsolateral right frontal cortex rendered the patient seizure-free, but produced a significant, non-fluent, Broca type, crossed aphasia. In addition, the seizure semiology was striking and remarkable, a common finding in frontal lobe epilepsy. [Published with video sequences].

A case of extended spectrum GEFS+.

A 10-year-old boy developed febrile convulsions at age 2 years, and multiple types of nonfebrile generalized seizures over the ensuing months and years. Gestation, birth, and early development were normal, as were initial EEG and brain imaging studies. By age 5 years, he had developed behavioral difficulties, and the EEG demonstrated both interictal and ictal generalized epileptiform patterns, as well as mild background slowing. Seizures were poorly controlled with multiple medication trials. There was a strong family history of clinically benign febrile seizures in the maternal lineage. Genetic analysis revealed a novel mutation in the voltage-gated neuronal sodium channel SCN1A. This patient's relatively malignant clinical course is consistent with "extended spectrum" generalized epilepsy with febrile seizures plus (GEFS+), and along with the family history illustrates the phenotypic variability of this disease.

Interictal perceptual function in epilepsy.

Epilepsy can affect perception. Ictal perceptual experiences are common, but interictal perceptual function may also be affected. This article reviews the English-language literature on interictal perceptual disturbances in epilepsy. Although most studies report impaired perceptual ability, heightened sensitivity has also been described. There is a compelling, though not absolute, correlation between affected sensory modality and underlying epilepsy syndrome. Olfaction is clearly affected in temporal lobe epilepsy, while visual information processing is disturbed in occipital lobe epilepsy. The cause of interictal perceptual dysfunction is unknown, but propagating epileptiform discharges may play a role. The presence of specific perceptual disturbances in focal epilepsy syndromes is consistent with the view that epilepsy is a network disease, with the potential to affect neural circuits distant from the seizure focus. The use of thoughtfully selected psychophysical perceptual tasks may provide additional insight into the cognitive impact of different epilepsy syndromes and of ablative epilepsy surgery.

Epileptic monocular nystagmus.

The authors describe a case of epileptic monocular nystagmus in a cognitively intact adult with normal vision. Focal seizures originated in the occipital lobe contralateral to the involved eye, and an associated structural lesion was thought to represent a forme fruste of Sturge-Weber syndrome. It is hypothesized that the seizure discharge either activated a cortical saccade region and caused simultaneous supranuclear inhibition of ipsilateral eye movement or triggered monocular eye movement commands.