Seizures In Children Research Articles

Temperature sensing by the calcium-sensing receptor.

Whether GPCRs support the sensing of temperature as well as other chemical and physical modalities is not well understood. Introduction: Extracellular Ca2+ concentration (Ca2+ o) modulates core body temperature and the firing rates of temperature-sensitive CNS neurons, and hypocalcemia provokes childhood seizures. However, it is not known whether these phenomena are mediated by Ca2+ o-sensing GPCRs, including the calcium-sensing receptor (CaSR). In favor of the hypothesis, CaSRs are expressed in hypothalamic regions that support core temperature regulation, and autosomal dominant hypocalcemia, due to CaSR activating mutations, is associated with childhood seizures. Methods: Herein, we tested whether CaSR-dependent signaling is temperature sensitive using an established model system, CaSR-expressing HEK-293 cells. Results: We found that the frequency of Ca2+ o-induced Ca2+ i oscillations but not the integrated response was linearly dependent on temperature in a pathophysiologically relevant range. Chimeric receptor analysis showed that the receptor's C-terminus is required for temperature-dependent modulation and experiments with the PKC inhibitor GF109203X and CaSR mutants T888A and T888M, which eliminate a key phosphorylation site, demonstrated the importance of repetitive phosphorylation and dephosphorylation. Discussion and Conclusion: CaSRs mediate temperature-sensing and the mechanism, dependent upon repetitive phosphorylation and dephosphorylation, suggests that GPCRs more generally contribute to temperature-sensing.

Incidence of Febrile Seizures in Children with COVID-19.

The coronavirus disease 2019 (COVID-19) has become a common cause of febrile seizures (FS), especially after the Omicron surge. This study aimed to determine the incidence of COVID-19-associated FS in children. The number of confirmed COVID-19 cases in patients aged below five years residing in the Jeonbuk province from January 2020 to June 2022 was obtained from official data provided by the Ministry of Public Administration and Security. During the same period, data on FS patients with COVID-19 were obtained from all local hospitals capable of FS treatment and were analyzed retrospectively. The number of children under five years of age in Jeonbuk was 62,772, of which 33,457 (53.2%) were diagnosed with COVID-19 during the study period. Of these, 476 patients (1.4%) required hospitalization, and 64 (0.19%, 44 boys; 68.8%: 20 girls; 31.2%) developed FS. All patients with FS presented with symptoms after the Omicron surge. Before the Omicron variant, 23.4% of the patients (89 of 381) required hospitalization; however, no children with COVID-19 were hospitalized for FS. Twenty-five patients (39.1%) had complex FS while one (1.6%) presented with febrile status epilepticus. Forty-two patients (65.6%) experienced first-time FS with an average of 1.5 convulsive events.

Comparison of Efficacy of Intranasal Midazolam and Conventional Treatment with Intravenous Diazepam for Control of Seizures in Children; A Randomized Controlled Trial

Objective: To compare the efficacy of intranasal midazolam and conventional treatment with intravenous diazepam for the control of seizures in children. Methodology: It was a randomized controlled trial conducted in the Children Hospital, PIMS, Islamabad from January 2022 to June 2022 presenting to the ER department with seizures. The patients were randomly divided into two groups. Group A patients were given a single dose of intranasal midazolam (0.2 mg/kg).Group B patients were treated with a single dose of intravenous Diazepam (0.2mg/kg). We recorded the following parameters: 1) the period elapsed between arrival at emergency and drug administration. 2) The time interval between drug administration and cessation of seizures. 3) The period between admission to the hospital and the end of seizures. Results: Among 60 enrolled patients, there were thirty-one males and twenty-nine females. The mean age of the patient was 5.27 ± 3.31 years. The mean intervals between arrival at the hospital and treatment given were 3.00±0.91 and 7.03±2.91 mins (p-value 0.000) in groups A and B, respectively. The mean intervals between the treatment given and cessation of seizure were 2.70 ± 1.05 and 2.60 ± 1.13 mins (p-value 0.725) in groups A and B, respectively. The mean intervals between arrival at the hospital and the cessation of seizure were 5.70 ± 1.3 and 9.63 ± 2.58 mins (p-value 0.000) in groups A and B, respectively. Conclusion: The intranasal Midazolam was shown to be as effective in suppressing seizure as the intravenous Diazepam. This is the best option if you don't have access to an intravenous line.

Fenfluramine treatment for Dravet syndrome: Caregiver- and clinician-reported benefits on the quality of life of patients, caregivers, and families living in Germany, Spain, Italy, and the United Kingdom

ObjectiveClinical trial data and prior preliminary research indicate that fenfluramine (FFA) provides meaningful improvements in seizure-related and quality of life (QOL) outcomes for individuals with Dravet syndrome (DS), their caregivers, and their families. This study sought to replicate and extend these preliminary findings in a new sample of individuals with DS and their families who live in European countries. MethodsStudy participants were European clinicians and parents caring for individuals with DS who had participated in an EU FFA Early Access Program. Participants completed one-on-one semi-structured interviews and were asked the extent to which they noticed changes in a number of the child's seizure- and non-seizure-related QOL domains after starting FFA treatment. Participants were also asked about the benefits of FFA treatment to the caregivers’ lives and for the family unit. Results25 parent caregivers and 16 clinicians participated. The caregivers and clinicians reported improvements in both seizure-related (i.e., reductions in seizure activity, improvements in the frequency or type of seizure triggers and post-ictal recovery times, and improved post-seizure function) and non−seizure-related (e.g., cognition, focus, alertness, speech, academic performance, behavior, sleep, motor function) QOL domains after FFA treatment in individuals with DS. Caregivers also reported improved mood and more time for things they enjoyed, felt less overwhelmed, reported better sleep quality, and had less personal and family stress; clinicians corroborated most of these reports. All clinicians (100%) and most (96%) caregivers said they would “very likely” or “quite likely” recommend FFA to others with DS. ConclusionsReal-world experience in Europe with FFA treatment is associated with meaningful improvements in many QOL domains for individuals with DS and their families; replicating findings from a previous study of DS patients and their families from the USA. Caregivers and clinicians provided specific examples of the benefits of FFA for people with DS, caregivers, and their families and are very likely to recommend FFA to others with DS.

Clinical and Radiological Features of Seizures in Children Admitted in the PICU at a Tertiary Care Hospital in North-eastern India: A Retrospective Study

Introduction: A seizure is a brief change in normal electrical brain activity resulting in alterations in awareness, perception, behaviour, or movement, which affect persons of all ages, but are particularly common in childhood. Seizure is a serious neurological symptom in the Paediatric Intensive Care Unit (PICU), yet data on the clinical spectrum of seizures occurring in the PICU setting in India are scarce. Aim: To determine the aetiology, clinical and radiological features of seizures in critically ill children admitted to PICU at a tertiary care hospital. Materials and Methods: This retrospective study was conducted at Gauhati Medical College and Hospital, Guwahati, Assam, India, from April 2017 to September 2018. A total of 253 children aged between 29 days to 12 years, admitted to PICU with seizures were enrolled in the study. Data regarding demographics, diagnosis, clinical seizures, associated diagnosis, Electroencephalogram (EEG) features, imaging, length of stay in PICU, and in-hospital mortality were collected. Data was presented in frequencies, mean, standard deviation. Results: In present study, male to female ratio was 1.5:1 with mean age of 48.9±44.5 months. The most common causes of seizures in PICU setting were acute symptomatic in 185 (73.1%) and epileptic in 68 (26.9%) patients. Central Nervous System (CNS) infections constituted 15.8% of the PICU admissions following seizures. Most frequent co-existent diagnosis at admission was infectious diseases in 96 (38%) patients, followed by pulmonary diseases in 28 (11%) and cardiologic diseases in 14 (5.5%). Conclusion: CNS infections are the most common cause of acute symptomatic seizure, while non infectious diseases such as metabolic disorders, epilepsy and immune disorders also contribute to seizure occurrence in PICU. Identification of common seizure aetiologies in PICU is important step for a prompt and effective treatment.

A STUDY OF ASSOCIATION OF LOW IRON STATUS AND FEBRILE SEIZURES IN CHILDREN AGED 6 MONTHS TO 60 MONTHS

Background: Febrile seizures are the most common type of childhood seizures. The peak incidence is at 18 months of age. Iron deciency alters the development of the hippocampus, neurons, delayed myelin maturation, slowing of auditory and visual evoked potentials, impairment of energy metabolism, alteration in synaptic neurotransmitter which lessens the seizure threshold. These effects are aggravated during febrile episodes thereby increasing the risk of occurrence of febrile seizures. To know the association Objective: between low iron status with or without anemia and febrile seizures. A tot Results: al of 111 children with febrile seizures were taken into study. Among them, 68 children (61.1%) had low serum iron levels and 43 (38.7%) children had normal serum iron levels. Iron deciency anemia was found in 46 (41.4%) of them. Low iron status even without the development of anemia increa Conclusion: ses the risk of febrile seizures through various nonhematological manifestations of iron deciency.

Posterior Quadrantic Dysplasia: An Uncommon Cause of Childhood Seizures with Brief Review of Literature

ABSTRACT Posterior quadrantic dysplasia (PQD) is a rare cause of medically refractory seizures among the paediatric population. We are reporting a case study of a 14-year-old female child with refractory seizures with seizure onset since birth. She was diagnosed with Posterior quadrantic dysplasia in left temporo-occipito-parietal lobes on magnetic resonance imaging. Our case report highlights the diffusion tensor imaging (DTI) and tractography along with routine magnetic resonance imaging findings in a classical presentation of PQD. DTI helps in proper delineation of white matter tract abnormalities and consequently in the approach for the surgical management. It is vital for radiologists to be familiar with these imaging findings for early diagnosis and treatment of PQD.

MRI Abnormalities of the Brain After Complex Febrile Seizures in Children.

Background Though simple febrile seizures do not cause significant and lasting neurological deficits, complex febrile seizures (CFS) can result in neurologic sequelae.Because CFS causes cortical focal injuries and other brain lesions, itneeds to be evaluated. Objective The objective of this study was to evaluate the MRI brain changes in CFS, the incidence of seizures in children aged six months to five years, and their severity in relation to MRI findings of the brain. Methods In this observational study, 36 children aged six months to five years, having fever with seizure, and fulfilling the criteria of CFS were enrolled within 48 hours of the episode. Detailed clinical and neurological examinations were performed with MRI scans to find out the probable CNS lesions of CFS. Two radiologists separately evaluated all MRI brains. Results MRI lesions of the brain were found in11 (30.56%) CFS patients. Generalized tonic-clonic seizures (GTCS) (n=31, 86.11%) were the most common type of seizure among CFS cases. Cortical focal hyperintensity (CFH) (42.1%) was the most common MRI presentation. Positive MRI findings were significantly associated with focal convulsions (n=5, 100%) as compared to GTCS cases (n=6, 19%) (p=0.001). Conclusions CFH is the most common abnormality in the MRI brain amongCFS cases. CFS patients with focal seizures or prolonged seizures in 24 hours have higher abnormal neuroimaging findings. MRI should be considered a preferred investigatory tool for detecting CNS pathology in CFS cases. Follow-up studies are needed to determine the long-term outcomes of CNS lesions in children with CFS.

Association between Iron & Other Trace Elements Deficiency and Febrile Seizure in Children

Introduction: Febrile seizures are the most common type of seizure in children occurring in 2-5 % of them with a peak incidence in 16-18 months. Various factors have been described in the pathophysiology of febrile seizures like susceptibility of the immature brain to temperature, an association between interleukins, circulating toxins, and trace elements deficiency.
 Aim: To study the association between serum levels of trace elements (Iron, zinc, copper, calcium and magnesium) in children with febrile seizures.
 Study Design: An observational cross-sectional study.
 Place and Duration of Study: Department of Pediatrics of PGIMER, Dr RML Hospital, New Delhi between November 2016 and March 2018.
 Methodology: This study was conducted at a tertiary care centre and enrolled 75 children of which 55 were febrile seizures and 20 patients were controls. The serum specimen was collected with all aseptic techniques, and all due precautions were taken for the blood sample to protect them from sunlight exposure, haemolysis and contamination. Then samples were centrifuged at 3,000 rpm for 5 minutes and were stored at -20 c until the final assay. Serum Iron, Zinc, Copper and Magnesium levels were measured using a fully automated chemistry analyser (AU400). Data was entered in MS Excel spreadsheets and analysed using the statistical package for social science (SPSS) version 21.0. 
 Results: Children with febrile seizures (cases) were found to have significant iron deficiency (higher TIBC, higher UIBC and lower Ferritin) than the controls (P<0.001). There was no significant difference in the serum levels of copper, zinc, magnesium, and ionized calcium in the two groups. There was no difference in serum levels of trace elements in cases with simple or complex febrile seizure.
 Conclusion: Children with febrile seizures showed significant iron deficiency (higher TIBC, higher UIBC and lower Ferritin) in cases than those with controls. But, there was no significant association between other serum trace elements (zinc, copper, calcium, magnesium) and febrile seizure. However, further large multi-centric trials are required to suggest any association between them.

Risk Factors of Seizures in Children

Background: As the most prevalent noncontagious neurologic condition, epilepsy is an important cause of mortality and disability in children, and its etiology is an important issue. Objectives: Epilepsy may be induced by different risk factors, some of which may be unclear; therefore, this study aimed to evaluate the risk factors of seizures in children. Methods: Children with seizures admitted to the Pediatric Clinic of Amir-Kabir Hospital were enrolled in this study. First, accurate biography of the parents was taken to rule out other differential diagnoses of seizures. After the diagnosis of seizures, based on the diagnosis of a pediatric neurologist, demographic information, detailed history of seizure, neurologic examination, and process of growth and development were recorded. Then, we take electroencephalogram (EEG), magnetic resonance imaging, and computed tomography scans from study cases. Results: Of the 291 evaluated cases, 54.6% were male. Variables associated with seizure and epilepsy evaluation showed that generalized tonic-clonic seizure was the most prevalent seizure in 134 children (46%). The duration of seizures was lower than 15 minutes in 266 cases; in addition, 191 children (55.5%) had a fever before seizures. Regarding underlying diseases, 268 children (92.2%) had no disease. Cerebral palsy (CP) was the most common underlying disease in 10 cases (3.4%). Conclusions: Infectious diseases (such as gastroenteritis and pneumonia) were observed as the most important possible risk factors in this study.

Risk of Developing Seizures in Children With Abnormal EEG Findings During Polysomnography

BackgroundPolysomnography (PSG) utilizes abbreviated electroencephalogram (EEG) to stage sleep. The aim of this study was to determine whether epileptiform abnormalities on this limited EEG coverage correlated with abnormalities on routine EEG (rEEG) and an increased risk for seizures in children without a prior diagnosis of epilepsy. MethodsA six-year retrospective chart review was performed assessing children with abnormalities on EEG during PSG. Children who underwent subsequent rEEG were included; children with a prior diagnosis of seizures were excluded. The main outcome measures were rEEG results and subsequent diagnosis of epilepsy. ResultsA total of 67 children met inclusion criteria. Average age was six years, and 43 (64%) were male. rEEG was normal in 16 (24%). Epileptiform abnormalities were focal in 36 (54%), generalized in eight (12%), and mixed in five (8%). An additional two (3%) had slow background rhythm without epileptiform discharges. Thirty-one patients had neurology clinic follow-up with an average duration of 31 months (range 4 to 65 months). Of these, nine (29%) developed seizures, including all three with generalized epileptiform discharges, four of 19 (21%) with focal epileptiform discharges, and two of five (40%) with mixed epileptiform discharges or background slowing. None of the four patients with a normal rEEG had seizures. Eight of the nine patients with seizures were treated with antiepileptic drugs. ConclusionsChildren with no history of seizures found to have abnormal EEG during PSG are likely to have an abnormal rEEG. Additionally, they have an increased risk for developing seizures.

Seizures in Children with SARS-CoV-2 Infection: Epidemiological, Clinical and Neurophysiological Characterization.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may present with a wide variety of symptoms, including neurological manifestations. We investigated clinical, demographic, laboratory, neurophysiological and imaging characteristics of SARS-CoV-2-positive children with seizures and analyzed differences between children admitted during the periods with prevalent circulation of the Alpha/Delta and Omicron variants, respectively. Patients' characteristics were analyzed according to the presence or absence of seizures and then according to the SARS-CoV-2 variants. Five-hundred and four SARS-CoV-2-positive patients were included: 93 (18.4%) with seizures and 411 (81.6%) without. Patients with seizures were older, had more commonly an underlying epilepsy and had more frequently altered C-reactive protein than those without seizures. Electroencephalography was abnormal in 5/38 cases. According to the SARS-CoV-2 variant, seizures were recorded in 4.7% of the total number of hospitalized patients during the Alpha/Delta period, and in 16.9% of patients admitted during the Omicron period. During the Alpha/Delta variants, seizures were more commonly observed in patients with epilepsy compared to those observed during the Omicron period. Our findings suggest that although SARS-CoV-2 may potentially trigger seizures, they are generally not severe and do not require intensive care admission.

Clinico-etiological profile of children with seizures at a tertiary care centre in rural area in North India with special emphasis on “treatment gap”: a retrospective observational study

Background: Childhood seizures are common neurological disorder. There is paucity of studies on etiology of seizures with revised standard definitions and of studies highlighting the treatment gap, required to plan health care services in rural areas of developing countries with limited resources. Objectives were to study the clinical and etiological profile of children with seizures and treatment gap in outpatient department of tertiary care centre in rural area in Northern India.Methods: It was a retrospective observational study in which relevant data on clinical, etiological profile and treatment details collected from OPD records was analyzed,Results: Study population of 249 children with mean age 9.2 (4.6) years and 52% females was analyzed. Generalized seizure was most frequent seizure type (71.50%). Neurocysticercosis was most common etiology (45.8%). Neuroimaging was abnormal in 79% cases. There was treatment gap of 66% with 43% children not started on any antiepileptic drug. The 58% children were taken to local tantriks believing that seizure is due to evil spirit. Amongst children who were given antiepileptic drugs (AEDs) (n=142), 86.6% were on monotherapy of which carbamazepine was most frequently prescribed drug (41%).Conclusions: The results of study would help to streamline the limited resources available for treatment and prevention of childhood seizures in the rural community and conduct socio culturally acceptable health campaigns to educate people about seizure and bridge the treatment gap.

A Prospective Hospital-Based Study on the Clinico-Etiological Profile of the First Episode of a Seizure in Children.

Background This study aims to examine the clinico-etiological profile of children with the first episode of a seizureand categorize seizure types based on age groups in a tertiary care hospital. Methodology This was aprospective observational studyconducted at a tertiary care medical institute in India over two years. Children (one month to 12 years of age) with the first episode of a seizure were included in the study population. The data collected included demographic profile, history, examination, biochemical profile, electroencephalogram (EEG), and neuroimaging.Children were categorized as generalized-onset, focal-onset, and unknown-onset seizures based on the International League Against Epilepsy2017 seizureclassification. Children were also classified according to specific etiologies such as structural, metabolic, or other specific causes. All the children were followed up at the hospital's outpatient clinic or through a telephonic interview. Results A total of 220 children were examined in this study. Among them, 64% were male and 36% were female, with a male-to-female ratio of 1.75:1. Among the 220 children, 21.8% had a family history of seizure. The most common type of seizures were generalized-onset seizures (n = 110, 50%), followed by focal-onset seizures (n = 96, 43.6%). Overall, 9% of children presented with status epilepticus as their first-episode seizure. An abnormal EEG was recorded for 122 (76%) children. While 60% of children had abnormal neuroimaging findings, the remaining had normal neuroimaging. Febrile seizures (n = 92, 41.9%) were the most common cause of the first episode of a seizure. Most of the febrile seizures occurred between the ageof one and four (n = 60, 65.2%). Epilepsy syndromes were the second most common etiology, followed by central nervous system (CNS) infections, structural brain abnormalities, metabolic disorders, vascular lesions, toxins, and immune-mediated causes, in that order. In 14 (6.36%) children, the etiology was unknown at the time of the study. Conclusions First-episode seizures in children cause physical, mental, and financial stress on the parents. The collection of detailed history, examinations, and appropriate investigations can help identifythe etiology of seizures. It was possible to determine the etiology of the first episode of a seizure in the majority of the patients. Generalized-onset seizures were the most common. Febrile seizures, epilepsy syndrome, CNS infections, vascular lesions, and metabolic disorders were the main etiological factors, in that order.

Risk Factors of First Episode Simple Febrile Seizures in Children Aged 6 Month to 5 Year: A Case Control Study

To study the risk factors of first episode simple febrile seizures in children. This case control study was conducted at the pediatric department of our tertiary care hospital. Cases were children of age group 6 months to 5 years presenting with first simple febrile seizures (n=214), and Controls were children of same age group presenting with short febrile illness but without any seizures (n=214). Blood investigations were done to diagnose iron deficiency, which was diagnosed by adopting cut off of hemoglobin value <11 g/dL, serum ferritin < 12 ng/mL and red cell distribution width >15%. Other risk factors studied included age, gender, socioeconomic status, prematurity, family history of febrile seizure and epilepsy in first degree relatives, consanguinity, neonatal hospital admissions, day care attendance (for >1 mo), under nutrition, and immunization status of the child. Univariate analysis for crude odds ratio and multivariate analysis (logistic regression) was performed to study the adjusted odds ratio and independent risk factors. The significant risk factors for first episode simple febrile seizure were iron deficiency [OR (95% CI) 5.78 (3.56-9.38); P=0.001], family history of febrile seizure [OR 4.31 (2.37- 7.83), P<0.001] or epilepsy [OR 4.25(2.21-8.19), P<0.001] in first degree relatives, day care attendance for >1 month [OR 4.81 (2.41-9.59), P<0.001], and prematurity at birth [OR 5.18 (2.48-10.84), P<0.001]. Iron deficiency, family history of febrile seizure and epilepsy in first degree relatives, day care attendance and premature birth are the risk factors for first episode simple febrile seizures in children.

Clinical Profile of Pediatric Neurology Disorders: A Study From a Semi-Urban Medical College in Northwestern India.

Neurological disorders are characterized by dysfunction in any part of the nervous system and are a major cause of disability among children and adolescentsin developing countries, just as it is in India. There is a lack of information on the prevalence of neurological disorders in developing countries due to the lack of quality health information and a lack of awareness of these disorders. This local study aims to provide an understanding of the profile and characteristics of neurological disorders in children that will aid in the development and implementation of preventive healthcare strategies. A retrospective observational study was conducted in the Department of Pediatrics. All pediatric neurology patients' data were retrieved from January 2020 to December 2020. Of the 12,782 children seen in the pediatric outpatient department (OPD), 133 (1.04%) had neurological disorders and about 65% were male. Childhood seizures 92 (69%) and developmental delay 13 (9.7%) were the most common neurological conditions, although there was an overlap of the conditions. This study provides some valuable information about common neurological disorders in children. Seizures, cerebral palsy, and developmental delay were the most common neurological disorders in children.

Efficacy and Safety of Levetiracetam in Refractory Seizures in Children

Objective: To assess efficacy and safety of Levetiracetam (LEV) as add-on therapy in children with refractory seizure. Methodology: This prospective observational cohort study was conducted in the Outpatient Department of Paediatric Neurology, “The Children’s Hospital &amp; Institute of Child Health, Multan”, Pakistan from 15th January 2020 to 14th January 2021. Fifty children of aged 2 months to 14 years of both genders with refractory epilepsy were enrolled and received oral LEV. Data on LEV efficacy and side effects were recorded. The medication was considered as “effective” when all seizures had ceased within 3 months, “partially effective” when seizure frequency was decreased by ≥50% and “ineffective” when seizure frequency was decreased by &lt; 50%.or seizure frequency remain unchanged during a period of 3 month. Results: Out of a total of 50 participants, there were 35 (70.0%) male. Mean age was 4.81±3.79 years while mean age at onset of seizures was 2.51±2.85 years. Most frequent type of seizures was generalized tonic clonic seizures in 19 (38.0%) patients followed by focal clonic seizures in 13 (26.0%) patients. Levetiracetam was effective in 14 (28%) patients, partially effective in 24 (48.0%) and not effective in 12 (24.0%) patients. Conclusion: Levetiracetam as add-on therapy reduced the seizure frequency in 76% of the participants without any significant side effects. Keywords: Levetiracetam, refractory seizure, epilepsy, add-on therapy, efficacy.

Triosephosphate isomerase deficiency in an infant

Triosephosphate isomerase deficiency is an autosomal recessive disorder characterized by progressive neuromuscular degeneration, seizure, dystonia, weak muscles, cardiomyopathy, hemolytic anemia, and death in early childhood. In the glycolytic pathway, dihydroxy acetone phosphate (DHAP) is converted to glyceraldehyde-3-phosphate by an enzymatic reaction. The reaction is catalyzed by the TPI enzyme. In TPI deficiency, erythrocyte viability is reduced due to insufficient anaerobic respiration and DHAP accumulation causes toxic effects on cells. A 2-month-old boy initially presented with infection and moderate anemia. Respiratory distress and neurological symptoms developed shortly thereafter. He was followed up with a mechanical ventilator for a long time. A homozygous pathogenic variant in the TPI1 gene was detected in the genetic analysis performed due to the progressive neurodegeneration and the need of intermittent erythrocyte transfusion in the follow-up. Here, an infant case with triosephosphate isomerase enzyme deficiency is presented.

Postoperative Epileptic Seizures in Children.

Background: Postoperative seizures (PS) occur in 10–15% of patients. This study aims to provide an update on the role of surgery in PS. Methods: All children undergoing a craniotomy for supratentorial lesions in the last 10 years were considered except those with preoperative seizures, perioperative antiepileptic drugs prophylaxis, head-injury and infections, repeated surgery, or preoperative hyponatremia. Children undergoing surgery for intra-axial lesions (Group 1, 74 cases) were compared with those harboring extra-axial lesions (Group 2, 91 cases). Results: PS occurred in 9% of 165 cases and epilepsy in 3% of 165 cases (mean follow-up: 5.7 years). There was no difference between the two study groups with regard to demographic data or tumor size. Group 1 showed a higher rate of gross total tumor resection (p = 0.002), while Group 2 had a higher rate of postoperative hyponatremia (p < 0.0001). There were no differences between the two groups in the occurrence of seizures (6.7% vs. 11%) or epilepsy (2.7% vs. 3.2%). No correlations were found between seizures and age, tumor location, histotype, tumor size, or the extent of tumor resection. Hyponatremia affected the risk of PS in Group 2 (p = 0.02). Conclusions: This study shows a lower rate of PS and epilepsy than series including children with preoperative seizures. Hyponatremia has a significant role. Neurosurgery is safe but surgical complications may cause late epilepsy.

The cognitive functions and seizure outcomes of patients with low-grade epilepsy-associated neuroepithelial tumors.

The aim of the study was to evaluate the cognitive functions and seizure outcomes of patients with low-grade epilepsy-associated neuroepithelial tumors (LEATs). We retrospectively reviewed the clinical data of patients who underwent preoperative neuropsychological evaluations and subsequent epilepsy surgery for LEATs. The neuropsychological results of full-scaled intelligence quotient (FSIQ) and full-scaled memory quotient (FSMQ) were analyzed, as well as the postoperative seizure outcomes. Of the 138 patients included in the study, 59 patients (40.4%) were female and 47 (36.6%) patients were children. Preoperatively, 138 patients received FSIQ assessments and 30 patients (21.7%) had an intellectual deficit (FSIQ < 80 scores); 124 patients received FSMQ assessments and 32 patients (25.8%) had a memory deficit (FSMQ < 80 scores). Younger age at seizure onset (OR 0.93; P = 0.035) and discordant ictal electroencephalography (EEG) findings (OR 5.26; P = 0.001) were found to predict intellectual deficits, while abnormal hippocampus (OR 2.36; P = 0.051) as well as discordant ictal EEG findings (OR 4.03; P = 0.007) tended to cause memory deficits. During postoperative follow-up, 123 patients (90.7%) were followed up at least 12months, and among them, 105 patients (85.4%) got seizure-free (Engel class I), while 18 patients (14.6%) were not (Engel class II-IV); longer duration of epilepsy (OR 1.01; P < 0.001) and discordant interictal EEG findings (OR 5.91; P = 0.005) were found to be related to poor seizure outcomes in patients with LEATs. Cognitive deficits commonly occur in patients with LEATs, especially in patients with early or childhood seizures. Early surgical intervention, however, could prevent most of patients from repeated seizure onsets and thus cognitive impairments.