ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients\' symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.

OBJECTIVE: Epilepsy patients often report memory deficits despite normal objective testing, suggesting that available measures are insensitive or that non-mnemonic factors are involved. The Visual Paired Comparison Task (VPCT) assesses novelty preference, the tendency to fixate on novel images rather than previously viewed items, requiring recognition memory for the \"old\" images. As novelty preference is a sensitive measure of hippocampal-dependent memory function, we predicted impaired VPCT performance in epilepsy patients compared to healthy controls.
METHODS: We assessed 26 healthy adult controls and 31 epilepsy patients (16 focal-onset, 13 generalized-onset, 2 unknown-onset) with the VPCT using delays of 2 or 30 s between encoding and recognition. Fifteen healthy controls and 17 epilepsy patients (10 focal-onset, 5 generalized-onset, 2 unknown-onset) completed the task at 2-, 5-, and 30-minute delays. Subjects also performed standard memory measures, including the Medical College of Georgia (MCG) Paragraph Test, California Verbal Learning Test-Second Edition (CVLT-II), and Brief Visual Memory Test-Revised (BVMT-R).
RESULTS: The epilepsy group was high functioning, with greater estimated IQ (p = 0.041), greater years of education (p = 0.034), and higher BVMT-R scores (p = 0.024) compared to controls. Both the control group and epilepsy cohort, as well as focal- and generalized-onset subgroups, had intact novelty preference at the 2- and 30-second delays (p-values ≤ 0.001) and declined at 30 min (p-values > 0.05). Only the epilepsy patients had early declines at 2- and 5-minute delays (controls with intact novelty preference at p = 0.003 and p ≤ 0.001, respectively; epilepsy groups\' p-values > 0.05).
CONCLUSIONS: Memory for the \"old\" items decayed more rapidly in overall, focal-onset, and generalized-onset epilepsy groups. The VPCT detected deficits while standard memory measures were largely intact, suggesting that the VPCT may be a more sensitive measure of temporal lobe memory function than standard neuropsychological batteries.

The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential. This treatment includes neurodevelopmental techniques, posture and balance training, and activities aimed at improving gait. The purpose of this case study is to demonstrate how early and continuous physical therapy interventions can maximize a child\'s functional abilities and prevent further complications. In this instance, a five-year-old boy with a documented history of spastic quadriplegia, seizure disorder, and global developmental delay reported experiencing challenges with sitting, walking, and speech. He had three episodes of fever, which led to his hospital admission. The child\'s medical history included acute hemorrhagic encephalitis, mild hydroureteronephrosis on the left side, and persistent convulsions that affected only one side of the body. Bilateral thalamic altered signal intensities were observed in the brain\'s MRI, and multiple calcifications were detected in the periventricular cortex, thalamus, and basal ganglia on the brain\'s CT scan. To enhance the independence, strength, and coordination of voluntary movement in individuals with CP, a variety of techniques are used in addition to physical therapy, such as occupational therapy, speech therapy, aquatic therapy, constraint-induced movement therapy, functional electrical stimulation, orthotic devices, injections of botulinum toxin, and hippotherapy.

BACKGROUND: Neuropsychological testing is a mandatory component in the evaluation of drug resistant epilepsy. The results of testing may assist with both the localization of an epilepsy as well as assessment of surgical risk. Previous studies have demonstrated differences in the neuropsychological performance of patients with epilepsy and functional seizures. We hypothesized that comorbid functional seizures could potentially influence neuropsychological test performance. Therefore, we evaluated whether there is a difference in the neuropsychological test results between drug resistant epilepsy patients with and without comorbid functional seizures.
METHODS: Neuropsychological test results were compared between 25 patients with drug resistant focal epilepsy and 25 patients that also had documented functional seizures. Univariate analyses and multiple logistic regression models were used to both assess performance differences between the groups and to assess whether test results could be used to accurately identify which patients had comorbid functional seizures.
RESULTS: Epilepsy patients with comorbid functional seizures performed significantly worse on the FAS Verbal Fluency Test compared to ES patients (p = 0.047). Digit Span Backwards (p = 0.10), Digit Span Forwards (p = 0.14) and Working Memory Index (p = 0.10) tended to be lower in the epilepsy and functional seizures group but was not statistically significant. A multiple logistic regression model using the results of four neuropsychological tests was able to identify patients with comorbid functional seizures with 83.33% accuracy.
CONCLUSIONS: There are appeared to be some differences in the neuropsychological performance among drug resistant epilepsy patients based on whether they have comorbid functional seizures. These findings may have relevant implications for the interpretation of neuropsychological test results.

Typical or atypical presentations of rare diseases may be confounded by co-morbidities in critically-ill patients. It is imperative to diagnose and treat appropriately, despite this difficulty. Scleroderma renal crisis mimics many other conditions, and can be potentially fatal if not caught early enough. Particularly, in critically-ill patients with multiple pathologies, it can be difficult to distinguish scleroderma renal crisis from other diseases, such as thrombotic thrombocytopenic purpura (TTP), hypertensive emergency, posterior reversible encephalopathy syndrome (PRES), or atypical hemolytic uremic syndrome (HUS). Herein, a patient who presented with encephalopathy and seizures was initially treated for thrombotic thrombocytopenic purpura, but was ultimately diagnosed with scleroderma renal crisis. Given her numerous laboratory abnormalities, such as thrombocytopenia, hemolytic anemia, kidney and liver dysfunction, and elevated inflammatory markers, various differentials were considered. During her hospitalization, she suffered a cardiac arrest, seizures, nosocomial infections and worsening kidney disease requiring dialysis, making the final diagnosis of scleroderma renal crisis a diagnosis of exclusion. Subsequently, the management of a patient with multiple co-morbidities and confounding laboratory abnormalities difficult to treat. This article highlights these intricacies and formulates the thought process behind the diagnosis of Scleroderma Renal Crisis.

Obesity among youth with epilepsy has multifactorial etiology, yet socioecologic obesity risk factors (eg, neighborhood factors) have not been examined in this population. This study examined (1) the prevalence of obesity adjusting for relevant covariates and (2) socioecologic correlates of obesity in adolescents with epilepsy aged 10-17 years.
This cross-sectional study used 2017-2018 National Survey of Children\'s Health data (total n = 27,094; epilepsy n = 184). Chi-square tests compared weighted prevalence of obesity with relevant covariates among all adolescents and adolescents with epilepsy. Weighted multiple logistic regression models were conducted to adjust for covariates.
The prevalence of obesity in adolescents with epilepsy was 27.8% (95% confidence interval [CI] 15.4%-40.3%) vs 15.1% (95% CI 14.1%-16.2%) for the non-epilepsy group. Adolescents with epilepsy also had higher odds of obesity after adjusting for age, gender, race/ethnicity, household income, physical activity, and medical home (odds ratio [OR] 2.1, 95% CI 1.2-3.8). Adjusting for sociodemographics, anxiety (OR 4.5, 95% CI 1.3-15.6), 2 or more adverse childhood experiences (OR 7.3, 95% CI 1.6-33.4), neighborhood detracting elements (eg, OR 5.2, 95% CI 1.5-18.5 for 1 detracting element), and forgone care (ie, unmet health care needs) (OR 22.4, 95% CI 3.8-132.8) were associated with obesity in adolescents with epilepsy. Adjusting for multiple comparisons, neighborhood detracting elements (P < .0001) and forgone care (P < .0007) remained significant.
Variables related to mental health, family functioning, built environment, and forgone care were associated with obesity in adolescents with epilepsy, but the association was not fully explained by these factors. Obesity interventions for this population should consider multiple levels of influence including the community and special health care needs of this population.

UNASSIGNED: This is a case report presenting the behavioral and dental management of a 9-year-old child recently diagnosed with autoimmune encephalitis, seizure disorder, and psychosis and treated with anticonvulsant and antidepressant medications. In this case, seizure semiology was presented as eye blinking during the attack, and the child was usually not conscious. It is absorbed by itself and associated with a post-sleeping attack that lasts for minutes.
UNASSIGNED: Parents presented to the pediatric dental clinic with a chief complaint of decayed teeth that needs to be restored. The child has mixed dentition and is diagnosed with anterior crossbite and single posterior crossbite. The child was cleared by the pediatric neurologist and psychiatrist and had no contraindications to dental treatment under local anesthesia. The child\'s treatment was completed on the dental chair without any seizure attacks, and the patient\'s chief complaint was resolved.
UNASSIGNED: Pediatric dentists should be educated about dental precautions and consider drug interactions when treating children with autoimmune encephalitis. Various types of non-pharmacological behavior guidance techniques and pharmacological methods of behavior management techniques can aid in the behavioral management of children with psychosis.
UNASSIGNED: Alowi WA, Baghlaf K. Behavioral and Dental Management of a Pediatric Patient Diagnosed with Autoimmune Encephalitis: A Case Report. Int J Clin Pediatr Dent 2023;16(2):416-419.

OBJECTIVE: Use of spinal cord monitoring in children with cerebral palsy (CP) and neuromuscular scoliosis is challenging. The previous reports suggest low success rates in the setting of CP, and it is unclear if transcranial electric motor evoked potentials (TcMEP) monitoring is contraindicated in patients with an active seizure disorder. The purpose of this study was to determine (1) are patients with CP able to be appropriately monitored with TcMEP? and (2) does TcMEP cause an increase in seizure activity?
METHODS: This was an institutional review board-approved retrospective cohort study observing 304 patients from 2011 to 2020. Inclusion criteria included all patients with CP undergoing posterior spinal fusion during this time. Intraoperative data were examined for the ability to obtain monitoring and any intraoperative events. Patients were followed for 3 months postoperatively to determine any increase in seizure activity that could have been attributed to the TcMEP monitoring.
RESULTS: Of the 304 patients who were observed, 21% (20.8%) were unable to be monitored due to lacking baseline signals from the extremities. Seventy-seven percent (77.5%) were successfully monitored with TcMEP. For these patients, no increased seizure activity was documented either intra- or postoperatively.
CONCLUSIONS: A high percentage of children (77.5%) with CP were able to be successfully monitored with TcMEP during posterior spinal fusion. Furthermore, the concerns about increased seizure activity after TcMEP were not supported by the data from this cohort. Technical details of successful neuromonitoring in these patients are important and included increased stimulation voltage requirements and latency times.
METHODS: III retrospective comparative study.

COVID-19 can affect many organ systems, including the CNS, with symptoms of altered mental status and seizures. We present a case of a 30-year-old man with cerebral palsy who developed seizures after a COVID-19 infection. Admission labs were remarkable for hypernatremia, and elevated creatine kinase, and troponin levels as well as creatinine above baseline. MRI was performed demonstrating a small, evolving acute/subacute abnormality in the midline splenium of the corpus callosum. An EEG showed moderate to severe abnormalities with low-voltage delta waves. The patient was treated with medication and advised to follow up with a neurologist. One month later, no residual CT abnormality corresponding to the previously reported lesion in the midline splenium of the corpus callosum was observed. Although epilepsy is a common finding in patients with cerebral palsy, the complete lack of seizure activity throughout this patient\'s early life, coupled with previously unremarkable brain imaging, further supports our claim that his recent onset of seizures was directly related to COVID-19. This case highlights the possibility of new seizures in patients with pre-existing neurological conditions after COVID-19 infection and emphasizes the need for more research.

Introduction Recent publications have described drug reaction with eosinophilia and systemic symptoms (DRESS) with topiramate. Topiramate has been associated with other severe cutaneous adverse reactions, including Stevens-Johnson syndrome, but a relationship to DRESS has not been established. To determine if there is a causal association between topiramate and DRESS, we conducted a comprehensive review of the data in the Janssen Research & Development Global Safety Database (GSD), signaling databases, and the literature. Methods The primary data were post-marketing reports of DRESS in the Janssen topiramate GSD (cumulative through 1 July 2022), representing >14,000,000 patient-years (PY) exposure. Cases were reviewed, assigned a Registry of Severe Cutaneous Adverse Reaction (RegiSCAR) score, and assessed for overall contribution of topiramate to DRESS based on temporality, concomitant medications, dechallenge/rechallenge, and baseline patient factors. Statistical disproportionality was evaluated in European Medicines Agency\'s EudraVigilance (EV) safety database and the United States Food and Drug Administration Adverse Event Reporting System (FAERS). For EV, the overall disproportionality threshold was the lower limit of the 95% confidence interval (CI) for the reporting odds ratio (ROR025) >1 and N ≥5. The overall threshold for FAERS was the Empirical Bayesian Geometric Mean (EBGM) ≥2, lower bound of the 90% CI (EB05) of >1, and N ≥3. To account for the role of concomitant drugs, Empirical Bayes regression-adjusted arithmetic mean (ERAM) scores were calculated, with a threshold ≥2, a lower bound of the 90% CI (ER05) of >1, and N ≥3. An integrated search of major biomedical literature was performed for reports of topiramate and DRESS. Results There were 17 reports of DRESS in the GSD (reporting rate 0.12/100,000 PY). RegiSCAR scores ranged from -3 to 7 (average -0.4). No cases met full diagnostic criteria and were highly confounded by the presence of other suspect drugs. Disproportionality scores exceeded thresholds for statistical significance in FAERS (N=72, EBGM=2.06, EB05=1.69), but not in EV (N=33, ROR025=0.79). When accounting for co-administered drugs, ERAM was statistically significant for carbamazepine (4.53), lamotrigine (ERAM=6.54), phenytoin (ERAM=2.91), and zonisamide (ERAM=2.25) exceeding disproportionality thresholds, but the score of topiramate was no longer significant (0.25). Conclusion A comprehensive review of all available evidence does not support a causal association between topiramate and DRESS.