Salvatore Striano

Reproductive endocrine disorders in women with primary generalized epilepsy.

Summary: It is known that women suffering from temporal lobe epilepsy may frequently present reproductive endocrine disorders (REDs). We hypothesized that a high occurrence of REDs could be found also in primary generalized epilepsy (PGE), and therefore investigated the hormonal and ovarian echographic profiles in 20 PGE female patients of reproductive age. Fourteen reported normal menstrual cycles, while 6 complained of longstanding menstrual irregularities. All but three patients were receiving antiepileptic drug (AED) therapy. In all subjects, the basal levels of gonadotropins, prolactin, and gonadal steroids were assayed. The response of luteinizing hormone (LH) to gonadotropin‐releasing hormone was also investigated and ovarian ultrasonographic findings were evaluated. In five of six patients with menstrual problems (25% of the group), a well‐defined RED was diagnosed (polycystic ovarian disease in three cases and hypothalamic ovarian failure in two). The 14 patients with normal menstrual cycles showed an elevation of mean basal follicle‐stimulating hormone and prolactin, and a blunting of mean LH response. Our results suggest that a high occurrence of REDs may be found also in PGE. We hypothesize that a neurotransmitter dysfunction might be the common pathogenetic mechanism resulting in both REDs and PGE. The hormonal alterations observed in the patients with normal menstrual cycles seem to support our hypothesis. Previous data seem to rule out a possible AED effect accounting for the hormonal findings observed in our series. However, further studies are needed to confirm our preliminary results.

Determinants of health-related quality of life in pharmacoresistant epilepsy: Results from a large multicenter study of consecutively enrolled patients using validated quantitative assessments

Purpose:  To evaluate the relative contribution of demographic and epilepsy‐related variables, depressive symptoms, and adverse effects (AEs) of antiepileptic drugs (AEDs) to health‐related quality of life (HRQOL) in adults with pharmacoresistant epilepsy.

Posterior reversible encephalopathy syndrome (PRES) in critically ill obstetric patients.

ObjectiveTo describe clinical, neuroradiological and evolutionary findings in obstetric patients with posterior reversible encephalopathy syndrome (PRES).DesignRetrospective case series.SettingUniversity intensive care unit (ICU).PatientsFour critically ill patients. Two patients experienced PRES in late postpartum without the classical pre-eclamptic signs. All patients showed impairment of consciousness and epileptic seizures; two of them presented cortical blindness and headache, too. True status epilepticus (SE) occurred in two cases. In all patients MRI showed the typical feature of gray-white matter edema, mainly localized to the temporo-parieto-occipital areas.InterventionsNormalization of high blood pressure (BP) and treatment of seizures. Two patients with SE and severe impairment of consciousness were treated with an intravenous valproate (ivVPA) bolus followed by continuous infusion.Measurements and resultsIn three cases, neurological and MRI abnormalities completely resolved in about a week. Another patient died due to subarachnoid hemorrhage.ConclusionPosterior reversible encephalopathy syndrome is a well described clinical and neuroradiological syndrome characterized by headache, altered mental status, cortical blindness and seizures, and a diagnostic MRI picture; usually reversible, PRES can sometimes result in death or in irreversible neurological deficits, thus requiring early diagnosis and prompt treatment. PRES can have various etiologies, but pregnancy and postpartum more frequently lead to this condition. Treatment of seizures deserves special attention since the anti-epileptic drugs currently used in SE management may worsen vigilance as well as autonomic functions. Extensive research is needed to assess the role of ivVPA in this condition.

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Objective: To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI). Patients and Methods: SMEI patients were recruited from different centers according to the following criteria: age ≥3 years; at least four tonic-clonic seizures/month during the last 8 weeks; previous use of at least two drugs. Levetiracetam was orally administrated at starting dose of approximately 10 mg/kg/day up to 50 to 60 mg/kg/day in two doses. Treatment period included a 5- to 6-week up-titration phase and a 12-week evaluation phase. Efficacy variables were responder rate by seizure type and reduction of the mean number per week of each seizure type. Analysis was performed using Fisher exact and Wilcoxon tests. Results: Twenty-eight patients (mean age: 9.4 ± 5.6 years) entered the study. Sixteen (57.1%) showed SCN1A mutations. Mean number of concomitant drugs was 2.5. Mean levetiracetam dose achieved was 2,016 mg/day. Twenty-three (82.1%) completed the trial. Responders were 64.2% for tonic-clonic, 60% for myoclonic, 60% for focal, and 44.4% for absence seizures. Number per week of tonic-clonic (median: 3 vs 1; p = 0.0001), myoclonic (median: 21 vs 3; p = 0.002), and focal seizures (median: 7.5 vs 3; p = 0.031) was significantly decreased compared to baseline. Levetiracetam effect was not related to age at onset and duration of epilepsy, genetic status, and concomitant therapy. Levetiracetam was well tolerated by subjects who completed the study. To date, follow-up ranges 6 to 36 months (mean, 16.2 ± 13.4). Conclusion: Levetiracetam add-on is effective and well tolerated in severe myoclonic epilepsy of infancy. Placebo-controlled studies should confirm these findings.

Gelastic Epilepsy: Symptomatic and Cryptogenic Cases

Summary: Purpose: To describe the etiology, characteristics, and clinical evolution of epilepsy in patients with gelastic seizures (GSs).

Interictal depression in epilepsy

The relation between depression and epilepsy was evaluated in 96 epileptic out-patients. We found that 50% of epileptic patients fulfilled the DSM-IIIR criteria for depression. The Hamilton Rating Scale for Depression, the Beck Self Depression Inventory and the Zung Anxiety Scale were also used in all patients. The patients with partial seizures with complex semiology (CPS) were more depressed than the patients with primary generalized epilepsy and with partial seizures with elementary semiology. A significant increase in the level of anxiety was also found in the group with CPS compared to the other two groups. No correlations were noted between severity of depression and duration of epilepsy, seizure frequency, socio-economic status, education, and family history of depressive illness. No relationship was observed between anticonvulsant drug levels and depression. We failed to confirm an association between side of epileptic lesion and severity of depression. We suggest that depression in epileptic patients does not represent a psychological reaction to a particular cognitive or physical impairment, but is in some way related to the type of epilepsy.

Eyelid myoclonia with absences (Jeavons syndrome): A well‐defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?

Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure‐induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic–clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences.

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Summary:  Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome).

Hyperhomocysteinemia in epileptic patients on new antiepileptic drugs.

Purpose:  Older enzyme‐inducing antiepileptic drugs (AEDs) may induce supraphysiologic plasma concentrations of total (t) homocysteine (Hcy). The aim of the present study was to investigate the effect of new AEDs on plasma tHcy levels.

Benign adult familial myoclonic epilepsy Genetic heterogeneity and allelism with ADCME

Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.