Background: The coexistence of spinal muscular atrophy (SMA) with other diseases has been rarely described. We report a unique case with dual pathogenic gene mutations: SMN1 gene causing SMA and SLC13A5 gene causing citrate transporter deficiency induced epilepsy (EIEE 25, OMIM 615905). Case presentation: The girl presented with recurrent focal seizures with semiology of eyelid blinking, deviation of eyes and facial twitches, which started from the second day of her life. Interictal EEG showed bilateral multifocal and generalized discharges. Brain MRI revealed delayed myelination and generalized volume loss. PET scan showed diffuse cortical hypometabolism. She had refractory seizures, including two episodes of status epilepticus while being treated with various antiseizure medications. Genetic analysis revealed homozygous deletion of SLC13A5 gene at 17p13.1. At one year of age, progressive hypotonia, initially ascribed to seizures and antiseizure medications, appearance of tongue fasciculations and need for respiratory support, prompted testing for SMA. Mutation at SMN1 gene locus (5q11.2-13.2) was found and SMA type I diagnosis was established. EMG/NCV revealed a motor neuron disorder. She was started on nusinersen at the age of 2.5 years, once it became available. She was tracheostomized for Bi Pap support. At the age of 4.5 years, she had a cardiac arrest and passed away. Conclusion: This is a case report of co-existent mutations in the SMN1 and SCL13A5 genes with overlapping and diagnostically confusing features of progressive hypotonia. The constellation of these separate genetic entities constitutes a clinical phenotype that has not been reported previously.

Abstract The coexistence of spinal muscular atrophy (SMA) with other diseases has been rarely described. We report a unique case with dual pathogenic gene mutations: survival motor neuron 1 (SMN1) gene causing SMA and SLC13A5 gene causing citrate transporter deficiency-induced epilepsy (early infantile epileptic encephalopathy 25, OMIM 615905).A girl presented with recurrent focal seizures with semiology of eyelid blinking, deviation of eyes, and facial twitches, which started on the second day of her life. Interictal EEG showed bilateral multifocal and generalized discharges. Brain MRI revealed delayed myelination and generalized volume loss. PET scan showed diffuse cortical hypometabolism. She had refractory seizures, including two episodes of status epilepticus while being treated with various antiseizure medications. Genetic analysis revealed a homozygous deletion of the SLC13A5 gene at 17p13.1. At 1 year of age, progressive hypotonia, initially ascribed to seizures and antiseizure medications, the appearance of tongue fasciculations and the need for respiratory support, prompted testing for SMA. Mutation at the SMN1 gene locus (5q11.2-13.2) was found and an SMA type I diagnosis was established. EMG/nerve conduction velocity revealed a motor neuron disorder. She was started on nusinersen at the age of 2.5 years once it became available. She was tracheostomized for bilevel positive airway pressure support. At the age of 4.5 years, she had a cardiac arrest and passed away.This is a case report of coexistent mutations in the SMN1 and SCL13A5 genes with overlapping and diagnostically confusing features of progressive hypotonia. The constellation of these separate genetic entities constitutes a clinical phenotype that has not been reported previously.

Abstract Background Epilepsy is the most common neurologic disorder affecting children in Nigeria. It is often associated with other neurologic comorbidities in addition to epileptic seizures, such as attention deficit hyperactivity disorder (ADHD) and cognitive, visual, and hearing impairments, which can be unrecognized while focusing on the seizures. Methods This cross-sectional study assessed the prevalence, pattern, and predictors of neurologic comorbidities among 100 children with epilepsy (CWE) attending the pediatric neurology clinic of Jos University Teaching Hospital, Jos, Nigeria, and age- and sex-matched controls selected consecutively. Data were summarized using frequencies and proportions. Chi-squared and Mann–Whitney U tests were used to test the categorical values, while logistic regression was used to determine the predictive factors for neurologic comorbidities. Results The prevalence of neurologic comorbidities among CWE versus controls was 65 vs. 15% (p < 0.001). Factors associated with neurologic comorbidities in CWE include younger age at onset of epileptic seizures (p < 0.003), severity of seizures (p < 0.001), history of status epilepticus (p < 0.044), background history of intracranial infections (p < 0.029), and the use of combination antiepileptic drugs (p < 0.001). Predictors of comorbidities in CWE were treatment with sodium valproate and polytherapy. Conclusion Neurologic comorbidities are more frequent among CWE than controls; therefore, screening for neurologic comorbidities should be routine when assessing and managing CWE.

Abstract Infantile epilepsy syndromes' nomenclature has changed over time. The International League Against Epilepsy (ILAE) revised its 2021 classification and definition of epilepsy syndromes in neonates and infants, replacing the term “benign” with “self-limited,” and now identifies them as “self-limited infantile epilepsy” (SeLIE). SeLIE is characterized by seizures that begin during infancy and resolve spontaneously with normal developmental progress. The recognition of infantile seizures with favorable outcomes dates back more than 60 years, as noted by Fukuyama in Japan. Thirty years later, Watanabe et al reported benign focal seizures in infancy, with the majority of cases being nonfamilial. These seizures' self-limited nature during infancy has since been acknowledged in various countries, spanning diverse ethnic populations beyond Japan. Infants who undergo such seizures are now recognized as having self-limited nonfamilial infantile epilepsy (SeLNFIE). Initially, Vigevano et al detailed the familial variant in five infants, coining the term “benign familial infantile seizures” to characterize this condition, now known as self-limited familial infantile epilepsy (SeLFIE). SeLNFIE and SeLFIE may present similarly with the exception of a positive family history. After the initial description and classification of these syndromes (familial and nonfamilial) in the ILAE's 1989 Classification of Epilepsies and Epileptic Syndromes, several less frequently encountered related syndromes have been recognized. These conditions comprise a spectrum including SeLFIE with choreoathetosis and paroxysmal dyskinesia, now termed infantile convulsions with paroxysmal choreoathetosis syndrome (ICCA); self-limited focal epilepsy in infancy with midline spikes and waves during sleep (SeLIMSE); self-limited infantile seizures with mild gastroenteritis (SeLISwG); SeLFIE associated with familial hemiplegic migraine (FHM); and self-limited familial neonatal-infantile epilepsy (SeLFNIE). This review aims to document the prevalence of these SeLIEs, elucidate their unique characteristics, and underscore their self-limited nature.

Abstract Hashimoto encephalopathy (HE) is a neuropsychiatric syndrome associated with positive thyroid antibodies (Ab). Its pathophysiology is still in debate and pediatric cases are considered rare. We present a case of an 11-year-old girl with new-onset refractory status epilepticus (NORSE) who presented a good initial response to corticosteroids but then required a second line of treatment with mycophenolate. In children presenting with NORSE of suspected autoimmune origin and no identification of autoimmune encephalitis traditional Ab, HE must be considered.

Abstract Lingual seizures (LS) mean isolated seizures of the tongue. They are uncommon, and only a few cases have been reported. Sensory, motor, and autonomic auras or focal manifestations have a localizing value in seizures. LS have been reported with and without focal pathology in the brain. LS must be differentiated from more common conditions, like lingual tremors/dyskinesias. We report a 4-year-and-8-month-old boy with LS.

Abstract Significance Recognition of intracranial hemorrhage is challenging in children who require deep sedation to tolerate mechanical ventilation. The Correlate Of Injury to the Nervous System (COIN) index may enable real-time recognition of intracranial hemorrhage at bedside. Methods Retrospective analysis of electroencephalography (EEG) data from children with spontaneous intracranial hemorrhage while intubated and sedated in the pediatric intensive care unit. Patients were selected for having normal head imaging at time of EEG start and required demonstration of hemorrhage on repeat imaging following an uninterrupted period of EEG recording. Power spectrum data were analyzed to yield a COIN value and visualization for every 4 seconds of recording. EEG recordings were subdivided based on COIN-risk alarm states (low, medium, or high). Changes in COIN were compared with changes in commercially available quantitative EEG trending software. COIN values for each subdivision were compared within cases using the Wilcoxon Rank-Sum Test. Results Two children developed spontaneous intracranial hemorrhage while intubated. COIN shows transitions from low-to-medium (p < 0.001) and medium-to-high-risk (p < 0.001 in both cases) alarm states. Discrete transitions in COIN alarm state preceded clinical recognition of hemorrhage by several hours. COIN visualized focal power attenuation concordant with hemorrhage localization. In both cases, qualitative EEG was not reported to have focal abnormalities during the medium-risk alarm state. Conclusion COIN may assist in real-time recognition of intracranial hemorrhage in children at bedside. Further study and development are required for clinical implementation of COIN in several clinical settings where patients are at high risk of new or worsening intracranial hemorrhage.

Abstract Although explaining epilepsy is a separate source of stress for children with epilepsy and their parents, studies evaluating the disclosure of epilepsy by patients and their parents are insufficient. The aim of this study was to test the validity and reliability of the Turkish form of the “Epilepsy Disclosure Scale (EDS)—Youth and Parent Versions,” which measures the concealment/disclosure of epilepsy by youth patients with epilepsy and their parents. The population of the study consisted of 126 children who were diagnosed with epilepsy and who were between the ages of 8 to 18 and their parents (63 children and 63 parents) who applied to two hospitals pediatric neurology. Both scales consist of six items. When the scale was adapted, language, content, structural, and reliability analyses were conducted. The factor loads varied between 0.78 and 0.88 and contributed 71.99% to the total variance in the Youth Version. In the Parent Version, they varied between 0.79 and 0.88 and contributed 67.09% to the total variance. The Cronbach's α coefficients of the youth and parent versions of the scale were calculated as 0.92 in the youth version and 0.90 in the parent version. The Composite Reliability Index of the youth version was 0.94, and that of the parent version was 0.92. It was concluded that all statistical studies in the study were compatible with the original scale and that it could be applied to children with epilepsy between the ages of 8 to 18 and their parents in Turkish society.