Epilepsy and Behavior Case Reports最新文献

Creutzfeldt–Jakob disease (CJD) presents with seizures as an early symptom in only approximately 3% of cases. These seizures often present as nonconvulsive status epilepticus (NCSE) or epilepsia partialis continua (EPC). Here, we describe a case of probable sporadic CJD (sCJD) in an 83-year-old man whose manifest an unusual presentation of left-hand tonic seizures without evolution to EPC, as well as brain MRI findings interpreted as peri-ictal changes, which led to an initial misdiagnosis of focal epilepsy.

We report a case of auditory disturbance in an adult female that developed after starting lacosamide treatment for epilepsy. While carbamazepine is known to change auditory pitch perception in some patients, that has not been previously reported as a side effect of lacosamide administration. In our description of pitch perception deficit associated with lacosamide, we outline features seen in our patient and compare our findings with those of previous reports describing carbamazepine-associated auditory disturbance.

We describe a 23-year-old woman with previous right temporal lobe surgeries for underlying cortical dysplasia, presenting with drug-resistant right hemispheric seizures and epilepsia partialis continua (EPC). After anti-seizure medication adjustments, she developed focal status epilepticus with progressive EEG and neuroimaging changes. Cerebrospinal fluid and serum autoimmune panels were negative except for an elevated serum acetylcholine-receptor antibody titer, but she underwent immunosuppressive therapy. Stereotactic-EEG evaluation demonstrated multifocal independent ictal patterns in the right hemisphere. Rasmussen's Syndrome was confirmed by brain biopsy, and a hemispherectomy was performed. This patient demonstrates the rare association of adult-onset EPC with cortical dysplasia, precipitously evolving into Rasmussen's Syndrome.

Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures. Convulsive status epilepticus and epilepsia partialis continua are rare and have been described on a case report basis. To our knowledge, there are no previously reported cases describing non-convulsive status epilepticus (NCSE) with electroencephalogram (EEG) documentation in the setting of acute porphyria crisis. We report a unique presentation of NCSE, which resolved after administering levetiracetam in a patient with variegate porphyria, without a known seizure disorder.

Background

Even with the extensive use of ketogenic dietary therapies (KD), there still exist many areas of the world that do not provide these treatments. Implementing the ketogenic diet in different countries forms a real challenge in order to match the cultural and economic differences.

Aim

To assess the feasibility of implementing a ketogenic diet plan in a limited resource setting with identification of the compliance, tolerability and side effects in the target population and to assess the efficacy of the ketogenic diet in children with intractable epilepsy.

Method of the study

The medical records of 28 patients with intractable epilepsy, treated at The Children's Hospital — Cairo University from December 2012 to March 2014 with ketogenic dietary therapy were reviewed. The non-fasting protocol was followed without hospital admission. All children were started on a standardized classic ketogenic diet with a ratio ranging from 2.5–4:1 (grams of fat to combined carbohydrate and protein). Patients were followed at 1, 3 and 6 months after diet initiation.

Results

The median age was 60 months (range, 30–110). After 1 month from diet initiation, 16 patients (57%) remained on the diet. One of them (6.3%) had more than 90% reduction in seizure frequency, an additional 6 patients (37.5%) had a 50–90% reduction in seizure frequency. In total, seven out of the 16 patients continuing the diet for 1 month (43.8%) had more than 50% improvement in seizure control from the base line. Despite having 50–90% seizure control, three children discontinued the diet after one month.

Three months after diet initiation, 6 patients (22%) remained on diet, 4 of them (66.7%) had more than 50% reduction in seizure frequency.

At 6 months, only 3 patients remained on diet, 2 of them (66.6%) had 50–90% reduction in seizure frequency, while one patient (33.3%) showed better than 90% decrease in seizure.

Conclusion

The current study shows that the ketogenic diet could be implemented in medium resources countries and should be included in the management of children with intractable epilepsy.

Ictal syncope is a rare phenomenon that occurs in association with 0.002–0.4% of seizures. In the absence of other symptoms, seizures presenting with syncope may be challenging to diagnose. We report a case of a previously healthy male who developed recurrent episodes of syncope with postictal confusion and was later diagnosed with temporal seizures. The patient was successfully treated with anti-seizure drugs and placement of a cardiac pacemaker. In a systematic review of literature, we summarize the clinical characteristics of patients with ictal asystole and isolated syncope. Seizures should be considered in patients with syncope of uncertain etiology.

We present a unique case of a patient with drug-resistant focal epilepsy undergoing stereoelectroencephalography (sEEG) who developed an acute posttraumatic intracranial hemorrhage during monitoring, first detected by changes on sEEG. Our case demonstrates the evolution of electrographic changes at the time of initial hemorrhage to the development of ictal activity. We conducted spectral analysis of the sEEG data to illustrate the transition from an interictal to ictal state. Initially, delta power increased in the region of acute hemorrhage, followed by sustained regional reduction in frequency variability. Our findings provide further information on the development of epileptiform activity in acute hemorrhage.

PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines.

We describe a patient with compound heterozygous variants, infantile epilepsy with status epilepticus, paroxysmal dyskinesia and episodic ataxia.

Testing revealed a pathogenic PRRT2 duplication (c.649dupC), and a likely pathogenic missense variant (c.916G>A).

His presentation meets the severe phenotypic category with a combination of at least 3 neurological symptoms: seizures and status epilepticus, prolonged episodic ataxia, and paroxysmal dyskinesia. This further expands the clinical findings related to PRRT2, and suggests that compound heterozygous variants could confer a severe phenotype.

Objectives

To examine outcome of bilateral extracranial to intracranial (EC-IC) bypass surgeries for a Down syndrome patient with hard-to-treat epilepsy and moyamoya.

Materials and methods

Superficial temporal arteries were anastamosed using an indirect bypass technique to middle cerebral arteries bilaterally to help limit perfusion deficits and seizure controls.

Results

Two superficial temporal to middle cerebral artery indirect bypass surgeries were performed within 3 months. Post-revascularization improvements included seizure control, gait, perfusion, wakefulness, language and quality of life.

Conclusion

In patients with Down syndrome and moyamoya, improvements in seizure control and quality of life may occur with EC-IC bypass procedures.

To clarify the effects of sleep on cortical irritability in benign adult familial myoclonus epilepsy (BAFME), we retrospectively compared epileptiform discharges of electroencephalographies (EEGs) between awake and sleep periods in 5 patients (mean age: 49.6 ± 20.3 years). We also analyzed polysomnography (PSG) of 1 patient. Epileptiform discharges were significantly more frequent during the awake period (1.3 ± 1.2/min) than those during light sleep stages (0.02 ± 0.04/min) (P < 0.05). Regarding PSG analysis, epileptiform discharges were also reduced during all sleep stages compared to those during awake periods. Our study suggests a relative reduction in cortical irritability during sleep in BAFME.