Arie Weinstock

Efficacy of the ketogenic diet in focal versus generalized seizures

Most reports of the ketogenic diet have focused on its efficacy for generalized seizures. Few data are available regarding its effect on focal seizures. We retrospectively studied patients (mean = 7.5 years of age) with medically intractable epilepsy treated by the ketogenic diet. The predominant seizure types in each patient were classified as generalized (100 patients) or focal (34 patients) based on ictal electroencephalograms (EEGs) or seizure semiology and interictal EEG. A seizure reduction of more than 50% compared with baseline was seen in nine patients (27%) with focal seizures and 46 patients (46%) with generalized seizures at 3 months, in 10 patients (30%) with focal seizures and 46 patients (46%) with generalized seizures at 6 months, and in eight patients (24%) with focal seizures and 42 patients (42%) with generalized seizures at 12 months. Differences were not significant. Outcome tended to be better in patients younger than 12 years of age compared with the older age group, but the difference was significant at 6 months only. Our results suggest that some patients with intractable focal epilepsy may respond favorably to the ketogenic diet and that this option should be considered if epilepsy surgery is not possible.

Pattern reversal visual evoked potentials as a measure of visual pathway pathology in multiple sclerosis

Background: Pattern reversal visual evoked potentials (PRVEPs) have a well-documented role in diagnosis of multiple sclerosis (MS), but their value as a visual function surrogate remains controversial. Methods: We evaluated PRVEP in 37 patients with MS who were participating in a long-term follow-up study following a phase III trial of interferon b-1a (A vonex®). Patients were examined to determine the Kurtzke Extended Disability Status Score (EDSS), multiple sclerosis functional composite (MSFC), contrast letter acuity (CLA), and had cranial MRI scans to determine whole brain atrophy (BPF). PRVEP was evaluated for P100 latency, amplitude, and waveform morphology. Two summary scores were created: for Score A, abnormal latencies, morphologies, and amplitudes of each individual eye were added; for Score B, abnormal latencies, morphologies, and amplitude ratio between eyes was determined. Sixteen patients in this group also had PRVEP at the time they enrolled in the clinical trial, eight years previously. Results: A t the follow-up exam, over 75% of patients had abnormal PVEP parameters while visual acuity (VA) was abnormal only in 59%. Increased PRVEP latency over the eight-year period correlated with deterioration assessed by EDSS (P = 0.006), BPF (P = 0.0001), and MSFC (P = 0.0041). Score A was significantly correlated with EDSS, BPF, C LA, cognitive function, and quality of life assessed with the Sickness Impact profile. No correlation was seen with the MSFC. Conclusions: The results indicate that PRVEP measures MS-related patho logy, and can provide not only diagnostic but also prognostic information during evaluation of MS patients.

Pharmacokinetics of Levetiracetam in Infants and Young Children with Epilepsy

Summary:  Purpose: To assess the single‐dose pharmacokinetics of levetiracetam and its major metabolite ucb L057 in infants and young children with epilepsy.

Retinal nerve fiber thickness in inflammatory demyelinating diseases of childhood onset

Purpose To evaluate retinal nerve fiber layer thickness (RNFLT) using optical coherence tomography (OCT) in children with acquired demyelinating diseases. Methods This is a cross-sectional study of patients seen between 2006–2008 at the Pediatric MS Center of the Jacobs Neurological Institute. Consensus definitions for pediatric demyelinating disease were followed. All children received OCT testing and assessment of visual acuity (VA) using Snellen and low contrast letter acuity (LCLA) charts. Results Thirty-eight children diagnosed with acquired demyelinating disease, 15 healthy controls, and five children with other neurological disorders (OND) were included. Average RNFLT in healthy controls was 107 ± 12 μm(n = 30) versus 108 ± 5 μm (n = 10) in OND controls. In children with multiple sclerosis, average RNFLT ± SD was 99 ± 14 μm in unaffected (n = 24) versus 83 ± 12 μmin eyes affected by optic neuritis (“affected eyes”) (n = 10). Average RNFLT in children with acute disseminated encephalomyelitis and transverse myelitis was 102 ± 15 μm in unaffected (n = 18) versus 67 ± 17 μm in affected eyes (n = 6). In children with optic neuritis (ON), average RNFLT ± SD was 97 ± 13 μm in unaffected (n = 5) versus 89 ± 12 μm in affected eyes (n = 9). Differences between children with demyelinating disease and controls and between ON and nonON eyes were statistically significant (P < 0.001). Bivariate correlations of RNFLT with LCLA (P = 0.002) and VA (P < 0.001) were significant. Conclusions OCT may be a valuable tool for the assessment and monitoring of anterior optic pathway dysfunction in children with demyelinating diseases.

Facial palsy, an unusual presenting feature of childhood leukemia

Facial paralysis is not a well-recognized presenting feature of leukemia in children. We present two infants and one older child in whom the initial manifestation of their leukemia was lower motor neuron facial paresis. Initial diagnosis in all the patients was Bells palsy. The presence of Bells palsy in young children requires a complete evaluation, including consideration of leptomeningeal disease. Leukemic children presenting with cranial neuropathy require intensive central nervous system therapy.

Autism Spectrum Disorder: Correlation between aberrant behaviors, EEG abnormalities and seizures

The relationship between epilepsy, epileptiform discharges, cognitive, language and behavioral symptoms is not clearly understood. Since difficulties with socialization and maladaptive behaviors are found in children with Autism Spectrum Disorder (ASD), we inquired whether epileptiform activity and seizures are associated with adverse behavioral manifestations in this population. We reviewed our EEG database between 1999–2006, and identified 123 children with ASD. EEG abnormalities were found in 39 children (31%). A control group of age and gender matched ASD children with normal EEG’s was obtained. Packets of questionnaires including the Vineland Adaptive Behavior Scale II (VABS), Aberrant Behavior Checklist (ABC) and the Childhood Autism Rating Scale (CARS) were sent by mail. Out of 21 packets received, 11 had normal and 10 had abnormal EEG’s. There were no statistically significant differences in behavior between the two groups. Statistical analysis of discharge location and frequency did not reveal a significant trend. However, children with ASD and seizures had statistically significant lower scores in VABS daily living (P=0.009) and socialization (P=0.007) as compared to those without seizures. ASD children with seizures had higher ABC levels of hyperactivity and irritability. Differences in irritability scores nearly reached statistical significance (P=0.058). There was no significant difference in the degree of CARS autism rating between the groups. Our study did not reveal statistically significant differences in behaviors between ASD children with and without EEG abnormalities. However, ASD children with seizures revealed significantly worse behaviors as compared to counterparts without seizures.

Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy.

We report a 15-year-old boy who presented with recurrent headaches associated with numbness, confusion, and speech difficulty. Brain magnetic resonance imaging (MRI) revealed diffuse bilateral white-matter hyperintensity on fluid-attenuated inversion-recovery and T2-weighted images in the internal capsule, periventricular and subcortical white matter, base of the pons, and middle cerebellar peduncles. Lesions were isointense on T1weighted images and nonenhancing. Muscle biopsy showed changes consistent with a mitochondrial myopathy. Mitochondrial respiratory chain enzyme activity analysis revealed a significant reduction in complex II activity. Genetic testing was negative. We conclude that mitochondrial encephalomyopathy may present with unusual diffuse supratentorial and infratentorial white-matter changes on MRI. (J Child Neurol 2002;17:47-49).

Becker Muscular Dystrophy Presenting as Eosinophilic Inflammatory Myopathy in an Infant

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Cholesterol affects retinal nerve fiber layer thickness in patients with multiple sclerosis with optic neuritis.

To evaluate the associations between retinal nerve fiber layer (RNFL) thickness and lipid profiles in multiple sclerosis (MS).

Postictal paresis in children with benign rolandic epilepsy

Following a search for the presence of postictal paresis in a cohort of 70 patients with benign rolandic epilepsy of childhood, the symptomatology of the seizures and the presence of postictal paresis were reviewed. All children underwent a neurologic evaluation, including electroencephalography (EEG) and neuroimaging. Eight of the 70 patients (3 girls and 5 boys) were found to have postictal paresis. All patients had partial motor seizures involving predominantly the upper extremities and, to a lesser degree, the face and lower extremities. In all eight patients, the motor deficits resolved within 60 minutes. Follow-up neurologic examination was nonfocal in all patients. Seven of the eight patients experienced postictal paresis once, and one patient had two such episodes. Three of the eight patients experienced a brief speech arrest. The EEG in all patients demonstrated centrotemporal sharp waves. In seven patients, the sharp waves were bilateral and independent, and in one patient, the rolandic sharp waves were unilateral. A horizontal dipole with positivity at the central region was found in all patients using an average montage. In conclusion, we found an 11.5% association of postictal paresis in children with benign rolandic epilepsy of childhood, whereas 38% of children also had a brief speech arrest. The EEG was characteristic for benign rolandic epilepsy of childhood with bilateral asynchronous discharges in seven of eight patients (83%) and the presence of dipole in all patients. The presence of postictal paresis should not exclude the diagnosis of benign rolandic epilepsy of childhood. (J Child Neurol 2005;20:834—836).