P. Ruosi

Gelastic Epilepsy: Symptomatic and Cryptogenic Cases

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

Relationship between serum mono-hydroxy-carbazepine concentrations and adverse effects in patients with epilepsy on high-dose oxcarbazepine therapy

PURPOSE To investigate the relationship between the serum concentration of the mono-hydroxy-derivative (MHD) of oxcarbazepine (OXC) and adverse effects (AEs) in epileptic patients on high-dose OXC therapy. PATIENTS AND METHODS Forty-four consecutive patients, aged 18-65 years, with refractory epilepsy receiving OXC dosages > or = 1500 mg/day (range 1500-3300 mg/day) were assessed at an outpatient clinic. Serum MHD concentrations were determined by a specific HPLC assay in samples collected before the morning dose and 2 h after drug intake. An independent observer assessed AEs at each sampling time. RESULTS AEs were reported in five patients at the first sampling time, and in 26 patients at the second sampling time. Nystagmus, sedation, blurred vision, and dizziness were the most frequent AEs. MHD concentrations (means +/- S.D.) associated with AEs were 29.6 +/- 5.58 compared with 21.7 +/- 5.0 mg/L when no AEs were detected (p = 0.0001). AEs were minimized in most patients by reducing OXC dose, increasing the number of daily administrations, or both. CONCLUSION Patients with serum MHD concentrations > or = 30 mg/L are at greater risk of developing AEs. In many patients, AEs occur intermittently in relation to fluctuations in serum MHD. Monitoring MHD concentrations could help in the management of patients on high-dose OXC therapy.

Transient epileptic amnesia: An emerging late‐onset epileptic syndrome

Transient epileptic amnesia (TEA) is a distinct neurologic condition occurring in late‐middle/old age and presenting with amnesic attacks of epileptic nature and interictal memory disturbances. For many years this condition has been associated with the nonepileptic condition of transient global amnesia (TGA) and still today is poorly recognized by clinicians. Despite the clinical and laboratory findings that distinguish TEA from TGA, differential diagnosis may be difficult in the individual patient. Every effort must be employed for an early diagnosis, since antiepileptic treatment may readily control both ictal episodes and memory disturbances.

Transient global amnesia of epileptic origin accompanied by fever

The case of a previously healthy 69-year-old female patient is described who presented, in a period of 6 months, 3 long-lasting (from 2 hour- to 10 hour-duration) episodes of transient global amnesia accompanied by a temperature rise. During one of these episodes an EEG was obtained, showing a diffuse alteration, focal slowing, and bitemporal asynchronous paroxysmal activity giving rise to electrical ictal discharges. Interictal EEGs were normal. Cerebral computed tomography was normal. Carbamazepine was given with complete control of the attacks. These episodes may be interpreted as complex partial status with unusual semeiology.

Epilepsia arithmetices: study of four cases

In a 12-year period, in a total of about 2000 new patients referred to our Epilepsy Centre, we observed four patients with seizures exclusively or predominantly triggered by calculation or by card and board games (epilepsia arithmetices, EA). In agreement with observations reported in the literature, all the patients suffered from idiopathic generalized epilepsy (IGE), and probably from juvenile myoclonic epilepsy of Janz. In only one patient was it possible, during arithmetic tasks of increasing difficulty and stress, to evoke electroencephalographic (EEG) paroxysmal discharges, progressively increasing to clinical seizures. In the remaining patients the diagnosis of EA was exclusively clinical, as it was not possible to record EEG interictal or ictal paroxysmal activity specifically triggered by arithmetic tasks. Consequently, it is emphasized that in some cases the diagnosis of EA in a patient with IGE may be based exclusively on clinical criteria. As reported in the literature, it is possible to observe during mathematical calculation or during games both clinical (myoclonic jerks of the right hand) and EEG (localized small spikes) focal signs, which suggest a localized activation of specific areas in a patient with IGE.

Cutis Verticis Gyrata—Mental Deficiency Syndrome: A Patient with Drug-Resistant Epilepsy and Polymicrogyria

We report a case of cutis verticis gyrate‐mental deficiency syndrome (CVG‐MD) which was associated with drug‐resistant epilepsy and bilateral occipital polymicrogyria. Genetic analysis showed an increased number of breaks at the 3p14 and 16q23 sites. We hypothesize that a deleterious factor acting at a critical period of intrauterine development could result in the cerebral malformation and in the development of CVG. Neuroradiological investigation is warranted in cases of CVG‐MD.

Neurological features and long-term follow-up in 15q11.2-13.1 duplication

Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader-Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and the phenotype is not yet defined. Here we report two adult cases with a 15q11.2-13.1 duplication showing a complex and similar epileptic phenotype.