Head atonic attacks: a new type of benign non-epileptic attack in infancy strongly mimicking epilepsy.

Non-epileptic attacks (NEAs) are a heterogeneous group of clinical entities which often complicate the differential diagnosis of epilepsy. NEAs usually have a benign course and are limited to a specific period of life. If motor manifestations are strongly suggestive of an epileptic phenomenon, the risk of misdiagnosis is greater. Here, we describe a novel NEA with infantile onset, characterised by repeated head drops, mimicking epileptic negative myoclonus of the neck. The frequency of the episodes was very high, at hundreds or thousands per day. The episodes appeared in the second semester of the first year of life and spontaneously disappeared within a few months. [Published with video sequences].

Photosensitivity: epidemiology, genetics, clinical manifestations, assessment, and management.

Photosensitivity is a genetically determined trait that may be asymptomatic throughout life or manifest with epileptic seizures. Photosensitivity usually begins before the age of 20 years with a peak age at onset at around 12. Both natural and artificial light may trigger seizures. Precise investigation must be carried out by intermittent photic stimulation that can elicit a clearly defined EEG response; video-EEG samples are reported to illustrate the various determinants of response and the main factors altering the effectiveness of intermittent photic stimulation. Management of photosensitive epilepsy includes non-pharmacological (e.g. avoidance of the provocative stimuli and wearing appropriate tinted glass) and pharmacological treatment. This review focuses on the emerging aspects of photosensitivity, in particular, the new guidelines for intermittent photic stimulation and briefly addresses epidemiological (in non-epileptic and epileptic subjects), genetic, diagnostic, and therapeutic issues. [Published with video sequences].

Photosensitive benign myoclonic epilepsy in infancy.

PURPOSE: To describe the electroclinical features of subjects who presented with a photosensitive benign myoclonic epilepsy in infancy (PBMEI). METHODS: The patients were selected from a group of epileptic subjects with seizure onset in infancy or early childhood. Inclusion criteria were the presence of photic-induced myoclonic seizures and a favorable outcome. Cases with less than 24 month follow up were excluded from the analysis. RESULTS: Eight patients were identified (4 males, 4 females). Personal history was uneventful. All of them had familial antecedents of epilepsy. Psychomotor development was normal in 6 cases, both before and after seizure onset. One patient showed a mild mental retardation and a further patient showed some behavioral disturbances. Neuroradiological investigations, when performed (5 cases), gave normal results. The clinical manifestations were typical and could vary from upward movements of the eyes to myoclonic jerks of the head and shoulders, isolated or briefly repetitive, never causing a fall. Age of onset was between 11 months and 3 years and 2 months. Characteristically, the seizures were always triggered by photic stimulation. Non photo-induced spontaneous myoclonic attacks were reported in 2 cases during the follow-up. Other types of seizures were present at follow-up in 2 cases. The outcome was favorable, even if, usually, seizure control required high AED plasma levels. Since the clinical symptoms were not recognized early, some patients were treated only many years after the onset of symptoms. CONCLUSION: Among BMEI patients, our cases constitute a subgroup in which myoclonic jerks were always triggered by photostimulation, in particular at onset of their epilepsy.

Suppressive efficacy by a commercially available blue lens on PPR in 610 photosensitive epilepsy patients.

PURPOSE: Photosensitivity can represent a serious problem in epilepsy patients, also because pharmacologic treatment is often ineffective. Nonpharmacologic treatment using blue sunglasses is effective and safe in controlling photosensitivity, but large series of patients have never been studied. METHODS: This multicenter study was conducted in 12 epilepsy centers in northern, central, southern, and insular Italy. A commercially available lens, named Z1, obtained in a previous trial, was used to test consecutively enrolled pediatric and adult epilepsy patients with photosensitivity. Only type 4 photosensitivity (photoparoxysmal response, PPR) was considered in the study. A standardized method was used for photostimulation. RESULTS: Six hundred ten epilepsy patients were tested. Four hundred (66%) were female patients; 396 (65%) were younger than 14 years. Three hundred eighty-one (62%) subjects were pharmacologically treated at the time of investigation. Z1 lenses made PPR disappear in 463 (75.9%) patients, and PPR was considerably reduced in an additional 109 (17.9%) of them. PPR remained unchanged only in the remaining 38 (6.2%) patients. The response of PPR to Z1 lenses was not significantly influenced by the patients' age, sex, or type of epilepsy. No difference was found between pharmacologically treated and untreated patients. CONCLUSIONS: The Z1 lens is highly effective in controlling PPR in a very large number of photosensitive epilepsy patients irrespective of their epilepsy or antiepileptic drug treatment. The lens might become a valid resource in the daily activity of any clinician who cares for patients with epilepsy.

Short-term nonhormonal and nonsteroid treatment in West syndrome.

PURPOSE: West syndrome (WS) is considered an age-dependent epileptic encephalopathy and also a particular type of electrical epileptic status. Short-term hormonal or steroid treatment of WS with good efficacy is reported in the literature. The aim of this retrospective multiinstitutional study was to evaluate the early discontinuation of nonhormonal and nonsteroid treatment for WS. METHODS: Twenty-two WS cases in which treatment was discontinued after a maximum of 6 months, were collected. Inclusion criteria were the presence of typical EEG hypsarrhythmia (HY) and video-EEG recorded epileptic spasms. Exclusion criteria were the presence of partial seizures or other seizure types before spasm onset. The patients were treated with vigabatrin (VGB) in 19 cases and nitrazepam (NTZ) in three. The dose range was 70-130 mg/kg/day for VGB and 0.7-1.5 mg/kg/day for NTZ. The drug was discontinued if spasms stopped and HY disappeared after a mean treatment period of 5.1 months (range, 3-6 months). All patients underwent repeated and prolonged awake and sleep video-EEG, both before and after drug discontinuation. RESULTS: Cryptogenic (15) and symptomatic (seven) WS patients were included. All the symptomatic cases had neonatal hypoxic-ischemic encephalopathy. The mean age at spasm onset was 5.5 months (range, 3-7 months; median, 6). The interval between spasm onset and drug administration ranged from 7 to 90 days (mean, 23 days; median, 20). The interval between drug administration and spasm disappearance ranged from 2 to 11 days (mean, 6 days; median, 6 days). The interval between drug administration and HY disappearance ranged from 3 to 30 days (mean, 9 days; median, 10 days). Drugs were stopped progressively over a 30- to 60-day period. Follow-up ranged from 13 to 50 months (mean, 26 months; median, 22 months). None of our cases showed spasm recurrence. CONCLUSIONS: Our data show that successful nonhormonal and nonsteroid treatment can be shortened to a few months without spasm recurrence in patients with cryptogenic or postanoxic WS.

Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial.

PURPOSE: This study was to evaluate the efficacy and safety of topiramate (TPM) in patients with severe myoclonic epilepsy in infancy (SMEI) and refractory seizures. METHODS: We performed a prospective multicentric open label add-on study in 18 patients (age 2-21 years, mean 9 years) with SMEI and refractory seizures of different types. TPM was added to one or two other baseline drugs and the efficacy was rated according to seizure type and frequency. RESULTS: TPM was initiated at a daily dose of 0.5-1 mg/kg, followed by a 2-week titration at increments of 1-3 mg/kg/24 h up to a maximum daily dose of 12 mg/kg. After a mean period of 11.9 months (range 2-24 months), three patients (16.7%) had 100% fewer seizures and ten patients (55.5%) had a more than 50% seizure decrease. In no patient there was a seizure worsening. Mild to moderate adverse events were present in four patients (22.2%), represented by weight loss, hypermenorrhoea, renal microlithiasis, nervousness and dysarthric speech. CONCLUSION: TPM may be a useful drug in patients with SMEI, being particularly effective against generalized tonic-clonic seizures. Further studies are needed to evaluate the early use of this drug in such a severe syndrome.