Journal de l'épilepsie

We evaluate the conflict processing and response of inhibition with the Stroop task in patients with intractable temporal lobe epilepsy who underwent depth electrode amygdala-hippocampal recording to determine focus laterality for further lobectomy and control subjects analyzing the cerebral metabolic response by fMRI. Patients showed longer reaction times and more errors in the Stroop task than control subjects. At the conflict processing and response of inhibition, TLE patients presented difficulties in the executive system regulated by the frontal lobe; they showed dominant brain activation in the right hemisphere frontal lobe and right inferior frontal junction, inferior frontal, superior frontal, middle frontal gyri and ACC. Patients did not show left activation, as observed in control subjects.

The Ketogenic Diet (KD) has been used in treatment of epilepsy in mainland China since 2004. Clinical indications of KD include: Glucose Transporter Type 1 (GLUT-1) deficiency, Pyruvate Dehydrogenase Deficiency (PDHD, myoclonus-astatic epilepsy (Doose syndrome), tuberous sclerosis complicated with or without epilepsy, Rett syndrome, Dravet syndrome, infantile spasms, and Landau-Kleffner syndrome, Lafora disease, and super-refractory status epilepticus. The contraindications of KD include: Inborn error of lipid metabolism, porphyria, and patients who are unable to cooperate with the KD. There should be standardized clinical consultation and evaluation before starting KD treatment; and special attention should be paid to selection and preparation of food, and to indication of age and geographic area etc. During the KD treatment, the transition time from ordinary diet to KD often takes 1-2 weeks; and a final 2: 1-4: 1 ketogenic diet ratio will normally produce ketosis of clinical therapeutic effect. The KD could be combined with anticonvulsant treatment. A qualified ketogenic diet therapy means: (1) Proper nutrition and growth with normal nutrition biomarkers; (2) Tasty foods: patients are willing to accept the therapeutic diet; (3) Ideal state of ketosis: urine ketone remains above (+++), blood ketone at about 4.0 mmol/L, blood sugar is controlled at 4.0 mmol/L, ratio of blood sugar/blood ketone is about 1: 1-2: 1; (4) Reasonable balanced food composition, defecate daily and naturally without constipation; (5) No remarkable complication(s). It is recommended that KD could be tried at least for three months continuously. Good responders should maintain the KD therapy for 2 yrs. or so. It often needs to take 3-6 months to return back to a regular diet. KD therapy should be monitored with close follow-ups and assessments. Our extensive experience has confirmed that it is safe in clinical practice.

Background: Patients with epilepsy are at higher risk for atherosclerosis which may be due to epilepsy or antiepileptic drugs. The frequency of atherosclerosis in patients with epilepsy was not previously studied in Egypt.
Objective of this study: This study aimed to detect the frequency of subclinical atherosclerosis and some vascular risk factors in patients with idiopathic epilepsy and to correlate it to clinical and laboratory data.
Patients and methods: Ninety patients with idiopathic epilepsy and 30 ages, sex matched healthy controls subjected to neurological examination, extra cranial carotid duplex, lipid profile, uric acid and CRP levels.
Results: The level of high density lipoprotein cholesterol was significantly lower in all patients with epilepsy and those treated with enzyme inducer antiepileptic drugs than the control subjects. Level of serum uric acid was statistically significantly higher in all patients with epilepsy including the untreated patients and those treated with non-enzyme inducer and poly antiepileptic drugs than control subjects. The Common Carotid Artery Intima Media Thickness (CCA IMT) was significantly higher in all patients with epilepsy including untreated and treated patients with enzyme inducer or non-inducer than control. There was a significant positive correlation between the CCA IMT and duration of illness as well as duration of the antiepileptic drugs.
Conclusion: Frequency of subclinical atherosclerosis in the patients with idiopathic epilepsy was 63.33%. The epilepsy itself could result in subclinical atherosclerotic changes in the patients with epilepsy, which could be exacerbated by the antiepileptic drugs, particularly the enzyme inducer drugs.

Neurofibromatrosis type 1 (NF-1) in the most common neurocutaneous disease with a autosomal dominant inheritance pattern and a frequency of 1:3.500 lives births in the general population, regardless of race and sex. NF-1 is a progressive disorder characterized by multiples café-au-lait macules, neurofibromas, Lish nodules and others manifestations such as bone abnormalities, short stature, epilepsy, learning disabilities, hyperactivity, with a highly variable and unpredictable expression. Half of its cause comes from different mutations in a gene on chromosome 17, resulting in less or performance neurofibromin having the regulatory domain of tumor activity. The other 50% of the case are caused by de novo mutation.
It is an infant 13 months old, no family history of neurofibromatosis, which features six café-au lait spots 1 cm of diameter in the legs, chest, auxiliary region a and short stature.
The clinical diagnostic criteria of NF-1 were established by The National Institutes Heath Consensus Development Conference in 1987. It has been suggested that pathogenic mutation in the NF-1 gene be added to the list of diagnostic criteria, but not yet accepted.
A molecular genetics study showed an alteration in exon 16 c.2540T>G (p.Leu847 Arg). No genetic alterations found in phenotypic parents.
After six year of follow-up she was not observed clinical or radiographic abnormalities.
The genetic study is mandatory for confirmation of the suspected diagnosis and to monitor de novo mutations that knowledge and phenotypic expression thereof.

Unlike interictal Positron Emission Tomography (PET), ictal PET is not regularly used in the study of refractory focal epilepsy, and its usefulness in presurgical evaluations, and prognosis value have not been established. The aim is to present six patients with epilepsy whose PET/CT brain scans showed focal hypermetabolism, and analyze their correlation with the histopathological findings and clinical results. We reviewed 146 18F-FDG PET/CT scans performed on patients with refractory focal epilepsy. Only those cases with hypermetabolic foci which were subsequently surgically resected were selected. The epidemiological and clinical data were reviewed in addition to the brain MRI, Electroencephalography (EEG), video-EEG monitoring, intraoperative Electrocorticography (ECoG), histopathology, and postsurgical outcome. The PET findings were correlated with the clinical characteristics of the seizures, the EEG, brain MRI, ECoG, and histopathology. Seven PET/CT scans carried out on six patients showed well-defined hypermetabolic foci (three temporal, four extratemporal). There was a high correlation between the clinical lateralization, EEG/ECoG findings, and hypermetabolic foci located by PET. An MRI correctly identified the resected histopathological lesion in five cases and it was negative in two. Three patients had Focal Cortical Dysplasia (FCD), one had FCD with areas of polymicrogyria, one had temporal lobe cavernoma associated with hippocampal sclerosis, and one had a focal subcortical heterotopia. Mean postsurgical follow-up was 29.1 months (range: 16-24 months) and all patients were seizure free during this period. This small series of patients who underwent surgery for intractable focal epilepsy have shown good correlation between the ictal F18-FDG PET/CT scan and the electroclinical and pathological findings. These results suggest that hypermetabolic foci showed in PET/CT provides a reliable estimation of epileptogenic zone. Focus size underestimation in one case suggest the need of doing an interictal PET before surgery.