Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Unlabelled: In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters.

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies.

A child with ictal vocalizations and generalized epilepsy.

Ictal vocalizations in the form of both articulate speech and non-speech vocalizations have been described in focal epilepsies, with seizures originating mainly from the frontal and temporal lobe, however, this phenomenon has not been described in generalized epilepsies. We report the case of an adolescent boy with juvenile-onset generalized epilepsy who presented with ictal "ovine vocalizations" (resembling the bleating of sheep). The ictal EEG revealed a clear correlate of vocalizations with time-locked generalized spikes and polyspike discharges.

Stroke-like Phenomena Revealing Multifocal Cerebral Vasculitis in Pediatric Lyme Neuroborreliosis.

Stroke-like presentation in Lyme neuroborreliosis is rare in the pediatric age group. We report a previously healthy 12-year-old boy who presented with acute left hemiparesis and meningeal signs. Neuroimaging failed to reveal any cerebral infarction but demonstrated a multifocal cerebral vasculitis involving small, medium and large-sized vessels affecting both the anterior and posterior circulation.

Multifocal motor neuropathy with high titers of anti-MAG antibodies.

Multifocal motor neuropathy (MMN) and anti-myelin-associated glycoprotein (anti-MAG)-associated neuropathy are clinically and electrophysiologically distinct entities. We describe a patient with characteristic features of both neuropathies, raising the possibility of an overlap syndrome. A 49-year-old patient reported a history of slowly progressive predominantly distal tetraparesis, with mild sensory deficits.

Auditory verbal hallucinations of epileptic origin.

Complex auditory hallucinations are often characterized by hearing voices and are then called auditory verbal hallucinations (AVHs). While AVHs have been extensively investigated in psychiatric patients suffering from schizophrenia, reports from neurological patients are rare and, in most cases, incomplete. Here, we characterize AVHs in 9 patients suffering from pharmacoresistant epilepsy by analyzing the phenomenology of AVHs and patients' neuropsychological and lesion profiles.

Opsoclonus-myoclonus syndrome in anti-N-methyl-D-aspartate receptor encephalitis.

Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis has been recently reported as autoimmune/paraneoplastic encephalitis, affecting mostly young females.

Objective: To describe opsoclonus-myoclonus syndrome in association with anti-NMDAR antibodies.

Design: Case report.

EEG source imaging in pediatric epilepsy surgery: a new perspective in presurgical workup.

Purpose: Epilepsy is a relatively frequent disease in children, with considerable impact on cognitive and social life. Successful epilepsy surgery depends on unambiguous focus identification and requires a comprehensive presurgical workup, including several neuroimaging techniques [magnetic resonance imaging, positron emission tomography (PET), and single-photon emission computed tomography (SPECT)]. These may be difficult to apply in younger or developmentally delayed children or both, requiring sedation, and hence, a significant workforce.

The global burden of measles in the year 2000--a model that uses country-specific indicators.

The estimation of the global burden of measles is challenging in the absence of reliable and comparable surveillance systems worldwide. A static model is described that enables estimation of measles morbidity, mortality, and disability for the year 2000 on the basis of country-specific information (i.e.

Organ donation rates in a neurosurgical intensive care unit.

Object: The number of patients waiting for organ transplantation continues to grow, while organs are donated by very few of the thousands of potential donors who die every year. The authors' neurosurgical intensive care unit (NICU) has worked closely with coordinators from the local organ procurement organization (OPO) for many years. In this study, the authors analyze donation rates in the NICU and discuss factors that may be important in maximizing these rates.