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This article discusses the use of arterial spin labeling (ASL)–magnetic resonance imaging (MRI) as a noninvasive technique to identify the seizure onset zone in patients with epilepsy. The ASL-MRI technique uses radiofrequency pulsations to tag the patient's carotid arterial blood as a tracer, allowing for the generation of a cerebral perfusion map that is related to cerebral blood flow. The article presents a case study of a young male with epilepsia partialis continua (EPC) in whom ASL-MRI was able to identify a radiologic focal cortical dysplasia (FCD) as the seizure onset zone. The authors suggest that ASL-MRI may be beneficial in localizing the seizure focus in patients with new onset seizures, particularly in nonlesional cases. They also highlight the advantages of ASL-MRI, such as its safety (radiation-free), wide availability, and noninvasiveness. [Extracted from the article]

Objective Methods Results Interpretation To determine common network alterations in focal cortical dysplasia pharmacoresistant epilepsy (FCD‐PRE) using functional connectivity analysis of resting‐state functional magnetic resonance imaging (rsfMRI).This is a retrospective imaging cohort from Children's National Hospital (Washington, DC, USA) from January, 2011 to January, 2022. Patients with 3‐T MRI‐confirmed FCD‐PRE underwent rsfMRI as part of routine clinical care. Patients were included if they were age 5–22 years at the time of the scan, and had a minimum of 18 months of follow‐up. Healthy, typically‐developing controls were included from Children's National Hospital (n = 16) and matched from Human Connectome Project‐Development public dataset (n = 100).A total of 42 FCD‐PRE patients (20 M:22 F, aged 14.2 ± 4.1 years) and 116 healthy controls (56 M:60 F, aged 13.7 ± 3.3 years) with rsfMRI were included. Seed‐based functional connectivity maps were generated for each FCD, and each seed was used to generate a patient‐specific z‐scored connectivity map on 116 controls. FCD‐PRE patients had mutual altered connectivity in regions of dorsal attention, default mode, and control networks. Functional connectivity was diminished within the FCD dominant functional network, as well as in homotopic regions. Cluster specific connectivity patterns varied by pathological subtype. Higher FCD connectivity to the limbic network was associated with increased odds of Engel I outcome.This study demonstrates diminished functional connectivity patterns in FCD‐PRE, which may represent a neuromarker for the disease, independent of FCD location, involving the dorsal attention, default mode, and control functional networks. Higher connectivity to the limbic network is associated with a seizure‐free outcome. Future multicenter, prospective studies are needed to allow for much earlier detection of signatures of treatment‐resistant epilepsy. ANN NEUROL 2024 [ABSTRACT FROM AUTHOR]

The International League Against Epilepsy (ILAE) Subcommittee for Pediatric Neuroimaging examined the usefulness of, and indications for, neuroimaging in the evaluation of children with newly diagnosed epilepsy. The retrospective and prospective published series with n ≥30 utilizing computed tomography (CT) and magnetic resonance imaging (MRI) (1.5 T) that evaluated children with new-onset seizure(s) were reviewed. Nearly 50% of individual imaging studies in children with localization-related new-onset seizure(s) were reported to be abnormal; 15–20% of imaging studies provided useful information on etiology or and seizure focus, and 2–4% provided information that potentially altered immediate medical management. A significant imaging abnormality in the absence of a history of a localization-related seizure, abnormal neurologic examination, or focal electroencephalography (EEG) is rare. Imaging studies in childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and benign childhood epilepsy with centrotemporal spikes (BECTS) do not identify significant structural abnormalities. Imaging provides important contributions to establishing etiology, providing prognostic information, and directing treatment in children with recently diagnosed epilepsy. Imaging is recommended when localization-related epilepsy is known or suspected, when the epilepsy classification is in doubt, or when an epilepsy syndrome with remote symptomatic cause is suspected. When available, MRI is preferred to CT because of its superior resolution, versatility, and lack of radiation. [ABSTRACT FROM AUTHOR]

: BackgroundWe report two adult patients with succinic semialdehyde dehydrogenase deficiency, manifesting as γ-hydroxybutyric aciduria. For both, the clinical presentation included significant behavioral disturbances and psychosis (hallucinations, disabling anxiety, aggressive behavior, and sleep disorder), leading to multiple therapeutic attempts. Intervention with benzodiazepines appeared most efficacious, resulting in decreased aggression and agitation and improvement in anxiety. A review of 56 published and unpublished studies of SSADH-deficient patients revealed that 42% manifested behavioral disturbances, whereas 13% (predominantly adults) displayed psychotic symptomatology.: MethodsTo explore the potential biochemical basis of these behavioral abnormalities, we studied cerebrospinal fluid derived from 13 patients, which revealed significantly elevated GHB (65- to 230-fold), high free and total GABA (up to threefold), and low glutamine.: ResultsAlthough within the control range, homovanillic and 5-hydroxyindoleacetic acids (end products of dopamine and serotonin metabolism, respectively) showed a significant linear correlation with increasing GHB concentration, suggesting enhanced dopamine and serotonin turnover.: ConclusionsWe conclude that elevated GABA combined with low glutamine suggest disruption of the glial-neuronal glutamine/GABA/glutamate shuttle necessary for replenishment of neuronal neurotransmitters, whereas altered dopamine and serotonin metabolism may be causally linked to the hyperkinetic movement disorders and behavioral disturbances seen in SSADH-deficient patients. [Copyright &y& Elsevier]

Background: Congenital cholesteatoma (CC) of middle ear is a rare entity that may go undiagnosed for years. Patients with CC who are diagnosed at a later stage of disease have poor outcome. There is controversy regarding the best way to delineate CC preoperatively. More specifically, the need to obtain preoperative computed tomography (CT) scan in all cases of CC is debated., Objectives: This study was conducted to determine factors that may influence the outcome of surgery in CC as well as the value of obtaining preoperative CT scan in CC., Method: A retrospective chart review of all patients with a diagnosis of middle ear cholesteatoma operated on between 1994 and 2000 was carried out. Patients with CC were identified using the criteria proposed by Levenson and Parisier., Results: Thirty-five patients with CC were identified. In 30 (86%) patients, the diagnosis was made during ear examination and the remaining five (14%) patients were diagnosed during myringotomies. Preoperative CT scans were available in 17 patients. The findings on CT scans were classified into four categories based on the ossicular chain and mastoid septae status as well as the presence or absence of middle ear and mastoid opacification. Intraoperatively, 22 (63%) patients were found to have extensive cholesteatomas with or without extension beyond the mesotympanum. Eleven of these 22 patients had ossicular chain erosion and five were later found to have recidivism. Preoperative CT scan accurately predicted the extent of the cholesteatoma seen during surgery in 14/17 (82%) and ossicular chain status in 15/17 (88%), while micro-otoscopy predicted the extent of the existing pathology in only 10/35 (29%). Intraoperative location and size of CC influenced the type of surgical approach, status of ossicular chain, postoperative hearing level and rate of recidivism., Conclusions: Children still present with late stage CC. Micro-otoscopy is insufficient to clearly delineate the extension of CC. Preoperative CT scan is essential in defining the extent of existing pathology. The intraoperative CC size and location influence the outcome of surgery. Early surgical intervention and long-term follow-up are essential.