Levetiracetam in patients with cortical myoclonus: a clinical and electrophysiological study.

Levetiracetam is a new antiepileptic agent that exerts antimyoclonic effects. We conducted an open-label trial to evaluate the effect of levetiracetam in chronic cortical myoclonus of diverse etiologies and to determine whether levetiracetam affects electrophysiological findings. Sixteen patients, aged between 19 and 72 years, with refractory, chronic, cortical myoclonus were recruited. We assessed myoclonus severity with the Unified Myoclonus Rating Scale (UMRS). The electrophysiological study comprised jerk-locked averaging, somatosensory evoked potentials (SEPs), and long loop reflex I. Levetiracetam was administered add-on at a starting dose of 500 mg twice per day up to the target dose of 50 mg/kg/day. Patients were reevaluated clinically and electrophysiologically 2 weeks after the titration phase. Fourteen patients completed the trial. Posttreatment UMRS scores showed an improvement of myoclonus in all cases. Pretreatment, 9 patients had "giant" SEPs. Posttreatment, the amplitude of these SEPs was reduced by more than 50% in 3 of 9 patients, and the mean N20-P25 amplitude was reduced significantly. Pre- and posttreatment SEP amplitude was not related to myoclonus severity or duration. Levetiracetam is a promising and a relatively easy-to-test antimyoclonic agent, which has the potential to improve significantly the patient's disability; however, its long-term efficacy should be verified in larger controlled studies.

The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome.

PURPOSE: To delineate the clinical spectrum and patterns of evolution of epilepsy with gelastic seizures related to hypothalamic hamartoma (HH). PATIENTS AND METHODS: We evaluated patients with HH, observed between 1986 and 2002 for whom at least one ictal video-EEG or EEG recording of gelastic seizures was available. RESULTS: Six subjects (four male, two female) with sessile HH between 0.8 and 1.7 cm in diameter were identified. The onset of gelastic seizures was between 2 months and 20 years. It evolved to secondary generalized epilepsy in one case, and to drug-resistant partial epilepsy in the other five from 2 to 13 years after onset. No patient showed precocious puberty. Severe cognitive impairment developed in the patient with secondary generalized epilepsy, and a mild cognitive defect in two others. Patients with an HH below 1cm did not show neuropsychological or behavioural disturbances. Drug resistance occurred in all cases. Surgical removal of HH markedly improved the clinical evolution in two patients. CONCLUSIONS: Gelastic epilepsy-HH syndrome can differ in severity and evolution. A catastrophic evolution and drug resistance can be reversed by surgical or by gamma-knife ablation of HH.

Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome.

INTRODUCTION: Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described. CASE REPORT: We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature. CONCLUSION: The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes.

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

OBJECTIVE: To describe clinical, neuroradiological and evolutionary findings in obstetric patients with posterior reversible encephalopathy syndrome (PRES). DESIGN: Retrospective case series. SETTING: University intensive care unit (ICU). PATIENTS: Four 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. INTERVENTIONS: Normalization 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 RESULTS: In three cases, neurological and MRI abnormalities completely resolved in about a week. Another patient died due to subarachnoid hemorrhage. CONCLUSION: Posterior 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.

Eyelid myoclonia with absences: an overlooked epileptic syndrome?

AIM: To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording. MATERIALS AND METHODS: Retrospective analysis of 2780 epileptic patients. INCLUSION CRITERIA: Eyelid myoclonia and brief absences, related to EEG generalized paroxysmal activity and triggered by eye closure and/or by intermittent photic stimulation. RESULTS: 7.46% of our patients with idiopathic generalized epilepsy (IGE) could be classified as EMA. Female/male ratio was 1.7:1. Familial history of epilepsy was present in about half of the patients, with two pairs of identical twins in the sample. Rare generalized tonic-clonic seizures occurred in most cases. CONCLUSIONS: EMA is a not infrequent condition among IGEs. It is likely to be underdiagnosed due to the subtle clinical semiology and to masking of EEG changes by the effects of age and anti-epileptic drugs. VEEG analysis is often needed for diagnosis of EMA. Most likely, only genetic research will be able to clarify whether EMA is a distinct epileptic syndrome.

Small hypothalamic hamartomas and gelastic seizures.

PURPOSE: To describe the clinical history of patients with gelastic seizures (GSs) related to small-size hypothalamic hamartomas (HHs), and to show some of these unusual seizures. MATERIAL AND METHODS: Patients with GSs and the MRI finding of HH < 1 cm diameter. Ictal EEG or video EEG are required. RESULTS: Three patients, among 6 with GSs and HH, had a small sessile HH. None of them had a history of precocious puberty, nor any relevant cognitive defects. All patients suffered from other seizure types, in addition to GSs. GSs were drug-resistant in all cases. CONCLUSION: since small, not easily recognizable HHs may be present in patients with GSs, a careful MRI study of the hypothalamic, infundibular and mammillary bodys areas is mandatory in these cases [published with videosequences].

Tiagabine in glial tumors.

RATIONALE AND PURPOSE: Preliminary reports have suggested a possible 'aetiology-specific' efficacy of tiagabine (TGB) in patients with drug-resistant partial epilepsy (DRPE) related to cerebral glial tumors (GTs). This efficacy should be related to selective blocking of GAT-1 transporter by TGB. We presented our open-label, add-on TGB experience in a group of patients with GTs, compared with other symptomatic DRPEs of different aetiology. MATERIAL AND METHODS: eleven patients with DRPE related to oligodendroglioma (six cases), astrocytoma (4) or multiform gliobastoma (1); 12 patients with DRPE related to a miscellanea of CNS lesions. TGB was added to previous AEDs, at dosage of 20-60 mg per die. Responders are defined by seizure frequency reduction >50% compared with baseline. RESULTS: Seven patients are responders with three seizure-free (SF) in GTs group, a rate of efficacy much higher than in matching group (63.6 vs. 16.6%). Adverse events have been observed only rarely, not leading to discontinuation, in GTs group. CONCLUSION: This preliminary observation seems to confirm the high efficacy and tolerability of TGB in DRPE related to GTs.