Seizures In Early Childhood Research Articles

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood.

Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH). All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy. Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains. The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism. Long-term follow-up is required to discern the true association between PVNH seen on prenatal imaging and postnatal seizures/epilepsy and neurodevelopmental outcomes.

Atypical electroclinical presentation of Landau Kleffner syndrome: a case report of an 8 year old Nigerian child

Epileptic seizures account for common neurologic presentations in paediatric neurology units in developing countries. Atypical presentation of syndromic epilepsy may be missed especially sensory, psychic or autonomic manifestations. An 8 year old male Nigerian child presented with recurrent vomiting and delayed motor milestones, regression of speech (acquired aphasia) with unremarkable birth history or any underlying medical or surgical condition. He had delayed gross motor development and continuous bilateral polyspike waves of slow sleep on EEG. Self-limited autonomic epileptic seizure syndrome which was a strong differential of autonomic seizures in early childhood was not suggestive as his EEG findings failed to demonstrate occipital spike wave pattern nor did photic stimulation evoke any epileptiform waves. Child made significant clinical improvement with anticonvulsants, neuro vitamins, and behavioural therapy, evidenced by regain of non-verbal communication, resolution of autonomic symptoms and temper tantrums. A high index of suspicion should be applied in patients with acquired aphasia with subclinical or recurrent autonomic symptoms.

A-312 Segregation in Two Families of the PCDH19Gene Deletion Associated With Infantile Epileptic Encephalopathy of X-Linked Inheritance and Expression in Female Carriers

Abstract Background Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected. We described the segregation in two unrelated families where the proband was clinically affected as a female and another family where the proband was clinically unaffected as a male. Methods Array-CGH analysis was performed by a CGXTM HD v1,1 4-plex array 180 k (PerkinElmer), with an average resolution of 40 kb in the backbone and 20 kb in the regions of interest. Results In the first family a deletion of 809.93 Kilobases was detected in the chromosomal region Xq22.1, which includes the PCDH19 gene, in a 1 year old patient with very early onset seizures, 8 months old, inherited from an asymptomatic father. In the second family, a deletion that includes the entire PCDH19 gene was detected in a 5-year-old male patient referred to genetics for autism spectrum disorder (ASD) and not symptomatic for epilepsy; this deletion was inherited from a mother who had episodes of epilepsy in childhood. Conclusion The aCGH technique is currently the technique of choice to determine the presence of deletions/duplications in genes of interest with high reliability in patients with neurodevelopmental disorders such as epilepsy or ASD. The probands of these two families have been studied for different clinical pathology and in both the deletion of the complete PCDH19 gene has been detected. The PCDH19 gene is expressed in developing human and mouse central nervous system, including the hippocampus and cortex, suggesting a role in cognitive function. Malfunction of the protocadherin19 protein is the cause of epileptic seizures in early childhood, the seizures are mostly focal and cause serial seizures (many seizures that cluster together over a few days). It is a type of epilepsy that usually begins in early childhood. Onset may occur spontaneously or in association with fever. Mutations/deletions of the PCDH19 gene are described to cause Early Childhood Epileptic Encephalopathy, with high but incomplete penetrance. DEE9 affects only females heterozygous for the deletion and is characterised by childhood onset of seizures/epilepsy, usually with mild/severe intellectual disability, with males being healthy carriers. Although the cause is not known specifically, it is thought to be related to X-chromosome silencing that occurs in females heterozygous for this mutation. It causes an autosomal dominant X-linked disorder. Some cases of males with a mosaic PCDH19 mutation/deletion have been found to be affected and it has been suggested that the presence of both the normal gene and the mutated/deleted gene is necessary to develop for this epileptic encephalopathy.

Teaching NeuroImages: An Imaging Clue in a Boy With Developmental Delay

A 6-year-old boy of nonconsanguineous parents presented with global developmental delay since infancy with history of 2 episodes of seizures in early childhood. Examination showed hyperactivity, subnormal cognition, tight heel cords, weakness of limbs along with hypotonia, and sluggish tendon reflexes. Serum creatine kinase was 2,138 IU/L.

Prioritizing Hormone Therapy Over Vigabatrin as the First Treatment for Infantile Spasms: A Quality Improvement Initiative.

Infantile spasms (IS) are early childhood seizures with potentially devastating consequences. Standard therapies (adrenocorticotropic hormone [ACTH], high-dose prednisolone, and vigabatrin) are strongly recommended as the first treatment for IS. Although this recommendation comes without preference for one standard therapy over another, early remission rates are higher with hormone therapy (ACTH and high-dose prednisolone) when compared with vigabatrin. Using quality improvement (QI) methodology that included hormone therapy as the first treatment, we sought to increase the percentage of children with new-onset nontuberous sclerosis complex (TSC)-associated IS achieving 3-month electroclinical remission from a mean of 53.8% to ≥70%. This was an observational consecutive sample cohort study at a single academic tertiary care hospital that compared a prospective intervention cohort (May 2019-January 2022, N = 57) with a retrospective baseline cohort (November 2015-April 2019, N = 67). Our initiative addressed key drivers such as the routine use of vigabatrin over hormone therapy as first treatment and the common initiation of a second treatment after 14 days for initial nonresponders. We included consecutive children without TSC presenting with new-onset IS diagnosed and treated between ages 2 and 24 months. We displayed our primary outcome and process measures as control charts in which the centerline is the quarterly (previous 3 months) mean based on statistical process control methodology. QI interventions that included the standardization of hormone therapy as the first treatment resulted in higher rates of 3-month remission, rising from 53.8% (baseline cohort) to 75.9% (intervention cohort). Process measure results included an increased rate of children receiving hormone therapy as first treatment (mean, 44.6%-100%) and a decreased number of days to both clinical follow-up after first treatment (mean, of 16.3-12.6 days) and starting a second treatment within 14 days for initial nonresponders (mean, 36.3-17.2 days). For children with IS, improved rates of 3-month electroclinical remission can be achieved with QI methodology. Implementation of similar QI initiatives at other centers may likewise improve local remission rates.

Brain network analysis of interictal epileptiform discharges from ECoG to identify epileptogenic zone in pediatric patients with epilepsy and focal cortical dysplasia type II: A retrospective study.

ObjectiveFor patients with drug–resistant focal epilepsy, intracranial monitoring remains the gold standard for surgical intervention. Focal cortical dysplasia (FCD) is the most common cause of pharmacoresistant focal epilepsy in pediatric patients who usually develop seizures in early childhood. Timely removal of the epileptogenic zone (EZ) is necessary to achieve lasting seizure freedom and favorable developmental and cognitive outcomes to improve the quality of life. We applied brain network analysis to investigate potential biomarkers for the diagnosis of EZ that will aid in the resection for pediatric focal epilepsy patients with FCD type II.MethodsTen pediatric patients with focal epilepsy diagnosed as FCD type II and that had a follow–up after resection surgery (Engel class I [n = 9] and Engel class II [n = 1]) were retrospectively included. Time–frequency analysis of phase transfer entropy, graph theory analysis, and power spectrum compensation were combined to calculate brain network parameters based on interictal epileptiform discharges from ECoG.ResultsClustering coefficient, local efficiency, node out–degree, and node out–strength with higher values are the most reliable biomarkers for the delineation of EZ, and the differences between EZ and margin zone (MZ), and EZ and normal zone (NZ) were significant (p < 0.05; Mann–Whitney U-test, two–tailed). In particular, the difference between MZ and NZ was significant for patients with frontal FCD (MZ > NZ; p < 0.05) but was not significant for patients with extra–frontal FCD.ConclusionsBrain network analysis, based on the combination of time–frequency analysis of phase transfer entropy, graph theory analysis, and power spectrum compensation, can aid in the diagnosis of EZ for pediatric focal epilepsy patients with FCD type II.

Nordic treatment guidelines for rare epileptic conditions: A literature review.

IntroductionThe onset of severe, drug‐resistant seizures in early childhood is characteristic of the rare epileptic disorders Lennox‐Gastaut syndrome (LGS), Dravet syndrome (DS), and CDKL5 deficiency disorder (CDD) and is frequently observed in the rare genetic conditions tuberous sclerosis complex (TSC) and Rett syndrome (RTT). High‐quality treatment guidelines are needed for optimal management of these conditions. This review aimed to assess content, availability, and development of treatment guidelines for these disorders in the Nordics region (Denmark, Finland, Iceland, Norway, and Sweden).MethodsA targeted literature review (TLR) was therefore conducted in November/December 2020 by manually searching online rare disease and guideline databases in addition to relevant health technology assessment and regulatory agency websites to identify pharmacological treatment guidelines for DS, LGS, TSC, RTT, and CDD. Search terms for each disorder were translated to identify country‐specific guidelines. Treatment recommendations, geographical focus, and guideline development methodology was extracted into a predetermined extraction grid.ResultsMost of the 24 eligible guidelines identified (16/24; 66%) were specific to particular countries; Sweden was the most represented (7/24 [29%] guidelines), while no guidelines were identified for Iceland. Guideline development methodologies were heterogeneous, including systematic literature reviews/TLRs and expert consultation; several methodologies did not report details on the evidence sources used (7/24 [29%] guidelines). Treatment recommendation availability was variable across disorders, ranging from 126 treatment recommendations (LGS) to none (RTT, CDD).ConclusionComprehensive, consensus‐based treatment guidance developed via international collaboration within the Nordics region is necessary to optimize patient care in these five rare epileptic conditions.

A retrospective review of changes and challenges in the use of antiseizure medicines in Dravet syndrome in Norway.

ObjectiveDravet syndrome is a developmental and epileptic encephalopathy characterized by severe and drug‐resistant seizures in early childhood, followed by developmental delay. The purpose of this study was to investigate aspects of pharmacological treatment of Norwegian patients with Dravet syndrome, focusing on the use of antiseizure medicines (ASMs) and identifying treatment challenges.MethodsPatients were identified through medical registries at the National Center for Epilepsy in Norway and National Center for Rare Epilepsy Related Disorders during 2008‐2018. Additional clinical data were obtained from medical records and laboratory request forms.ResultsWe identified 53 patients with Dravet syndrome, 30/23 males/females, aged 2‐50 years. The majority of patients with known seizure frequency experienced frequent seizures, 80% (n = 35/44). Only two patients were seizure‐free. Valproate (n = 48), clobazam (n = 45), levetiracetam (n = 30), and stiripentol (n = 38) were most commonly used, previous or current use. More than one‐third (n = 20) had tried sodium channel blockers (including lamotrigine), but these drugs were used less during the last decade. Polytherapy was common, 81% (n = 43) used two or more ASMs, and eight of these patients used 4‐5 drugs (15%). Several challenges were identified: high seizure frequency, comorbidities, treatment changes with a wide range of ASMs, common use of oral gastro‐tubes, extensive polypharmacy, and drug interactions.SignificanceThe use of ASMs has changed over the last decade, in accordance with updated international recommendations. Various treatment challenges were identified. This vulnerable group of patients needs close follow‐up for an optimal treatment outcome.

Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood febrile seizures.

Age at epilepsy onset has a broad impact on brain plasticity and epilepsy pathomechanisms. Prolonged febrile seizures in early childhood (FS) constitute an initial precipitating insult (IPI) commonly associated with mesial temporal lobe epilepsy (MTLE). FS-MTLE patients may have early disease onset, i.e. just after the IPI, in early childhood, or late-onset, ranging from mid-adolescence to early adult life. The mechanisms governing early (E) or late (L) disease onset are largely unknown. In order to unveil the molecular pathways underlying E and L subtypes of FS-MTLE we investigated global gene expression in hippocampal CA3 explants of FS-MTLE patients submitted to hippocampectomy. Gene coexpression networks (GCNs) were obtained for the E and L patient groups. A network-based approach for GCN analysis was employed allowing: i) the visualization and analysis of differentially expressed (DE) and complete (CO) - all valid GO annotated transcripts - GCNs for the E and L groups; ii) the study of interactions between all the system’s constituents based on community detection and coarse-grained community structure methods. We found that the E-DE communities with strongest connection weights harbor highly connected genes mainly related to neural excitability and febrile seizures, whereas in L-DE communities these genes are not only involved in network excitability but also playing roles in other epilepsy-related processes. Inversely, in E-CO the strongly connected communities are related to compensatory pathways (seizure inhibition, neuronal survival and responses to stress conditions) while in L-CO these communities harbor several genes related to pro-epileptic effects, seizure-related mechanisms and vulnerability to epilepsy. These results fit the concept, based on fMRI and behavioral studies, that early onset epilepsies, although impacting more severely the hippocampus, are associated to compensatory mechanisms, while in late MTLE development the brain is less able to generate adaptive mechanisms, what has implications for epilepsy management and drug discovery.

PP07.15 – 2633: Familial generalized epilepsy with absences with SCN9A mutation: Therapy with carbamazepine

Objective Mutations of the SCN9A gene can cause ion channel dependant pain syndromes, generalized epilepsy with febrile seizures or familial febrile seizures, following an autosomal dominant or recessive inheritance. Furthermore cardiac symptoms such as bradycardia with syncopes up to asystole and tachycardia have been described. We present a case of a familial generalized epilepsy with additional paroxysmal tachycardia that has successfully been treated with carbamazepine. Case description Our 5-year-old patient first had absence-like seizures at the age of 3 years, with a frequency of approximately twice a month and a duration of 5 to 10 seconds. The EEG showed paroxysmal generalized polyspike wave complexes. Since the age of 4 years the patient had also suffered from episodes with paroxysmal tachycardia. The patient's mother and her sister had similar seizures in early childhood, both were successfully treated with carbamazepine (CBZ). The mother also suffers from episodes with paroxysmal tachycardia which are accompanied by panic attacks. In our patient, the heterozygous modification c.684C>G; p.I228M was detected in the SCN9A gene, using “next generation sequencing”. The mutation could also be detected in the patient's mother. A therapy with CBZ reduced both the boy's seizure frequency and the frequency of his paroxysmal tachycardia significantly. Discussion SCN9A mutations have also been described for Dravet syndrome and familial febrile seizures, whereas our patient showed a familial absence-like generalized epilepsy in combination with paroxysmal tachycardia. Our patient, his mother and also his aunt were successfully treated with CBZ, which could suggest that the patient's c.684C>G; p.I228M mutation causes a “gain of function” of the Nav1.7 sodium channel. The additional cardiac symptoms could also be an effect of the SCN9A mutation.

P67 – 1636 Generalized seizures in early childhood: clinical features and differential diagnosis

P67 – 1636 Generalized seizures in early childhood: clinical features and differential diagnosis

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity. Two affected children had ocular malformations, and the three older children had progressive visual loss. The youngest had normal globes with good functional vision when last examined but exhibited the oculodigital sign, which may signify a subclinical visual deficit. A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals. This gene has no known function. This family manifests a autosomal recessive syndrome with some phenotypic variability that includes abnormal development of brain and eyes, delayed cognitive and motor milestones, seizures, and a severe cognitive and visual decline that is associated with a homozygous variant in a newly identified gene.

Maternal Use of Antibiotics and the Risk of Childhood Febrile Seizures: A Danish Population-Based Cohort

ObjectiveIn a large population-based cohort in Denmark to examine if maternal use of antibiotics during pregnancy, as a marker of infection, increases the risk of febrile seizures in childhood in a large population-based cohort in Denmark.MethodsAll live-born singletons born in Denmark between January 1, 1996 and September 25, 2004 and who were alive on the 90th day of life were identified from the Danish National Birth Registry. Diagnoses of febrile seizures were obtained from the Danish National Hospital Register and maternal use of antibiotics was obtained from the National Register of Medicinal Product Statistics. Hazard ratios (HR) and 95% confidence intervals (95% CI) were estimated by Cox proportional hazard regression models.ResultsWe followed 551,518 singletons for up to 5 years and identified a total of 21,779 children with a diagnosis of febrile seizures. Slightly increased hazard ratios were observed among most exposure groups when compared to the unexposed group, ex. HR 1.08 95% CI: 1.05–1.11 for use of any systemic antibiotic during pregnancy.ConclusionWe found weak associations between the use of pharmacologically different antibiotics during pregnancy and febrile seizures in early childhood which may indicate that some infections, or causes or effects of infections, during pregnancy could affect the fetal brain and induce susceptibility to febrile seizures.

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations. Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology. Mean age at the time of the study was 13.5 ± 11 years. Mean age at seizure onset was 15.5 ± 11 months (range 9-38). All patients experienced clusters of either focal or generalized seizures, precipitated during febrile illness in five patients. Attacks were very frequent at onset, but they became less numerous during follow-up. Ictal electroencephalography (EEG) showed temporal lobe involvement in five patients. Periictal EEG showed focal or multifocal epileptiform and slow abnormalities. Cognitive impairment became obvious after seizure onset in three patients and was associated with autistic features in two. Genetic analysis revealed five new and one known de novo PCDH19 mutation that were missense in four and frameshift in two. Variants are clustered in the large exon 1, corresponding to the extracellular domain of the PCDH19 protein. Our findings emphasize that de novo PCDH19 mutations are associated with infantile or early childhood onset of febrile or afebrile seizures often occurring in clusters. Cognitive impairment is not constantly present and autistic features are observed in some patients. Most patients have a "stormy" seizure onset, often related to fever; however, seizure severity does not clearly correlate with the degree of cognitive deficit. PCDH19 is likely a major epilepsy gene; phenotypes associated with mutations of this gene range from epileptic encephalopathies to mild epilepsy, yet large series of patients will be necessary to fully delineate phenotypic spectrum.

Fetal Growth Retardation and Risk of Febrile Seizures

The goal was to examine the associations between fetal growth characteristics in different trimesters of pregnancy and the occurrence of febrile seizures in early childhood. This study was embedded in a population-based, prospective, cohort study from early fetal life onward. Fetal growth characteristics (femur length, abdominal circumference, estimated fetal weight, head circumference, biparietal diameter, and transverse cerebellar diameter [TCD]) were measured with ultrasonography in the second and third trimesters of pregnancy. Information on the occurrence of febrile seizures was collected with questionnaires at the ages of 12 and 24 months. Analyses were based on data for 3372 subjects. In the second trimester, children in the lowest tertile of TCDs were at increased risk of developing febrile seizures, compared with children in the highest tertile (odds ratio 2.87 [95% confidence interval: 1.31-6.28]). In the third trimester, children in the lowest tertile of all general growth characteristics (femur length, abdominal circumference, and estimated fetal weight) were at increased risk of developing febrile seizures. This association was strongest for children in the lowest tertile of estimated fetal weight (odds ratio: 2.57 [95% confidence interval: 1.34-4.96]). Children in the lowest tertile of biparietal diameter in the third trimester also were at increased risk of febrile seizures. Similar but not statistically significant tendencies were observed for head circumference and TCD. Fetal growth retardation is associated with increased risk of febrile seizures in the first 2 years of life. Adverse environmental and genetic factors during pregnancy may be important in the development of febrile seizures.

Lack of Association Between Acellular Pertussis Vaccine and Seizures in Early Childhood

Receipt of diphtheria-tetanus-whole-cell pertussis vaccine (diphtheria-tetanus toxoids-pertussis [DTP]) is associated with seizures. Limited population-based studies have been conducted on the risk for seizures after receipt of diphtheria-tetanus-acellular pertussis vaccine (diphtheria-tetanus-acellular pertussis [DTaP]). We conducted a retrospective study from 1997-2006 by using risk-interval cohort and self-controlled case series (SCCS) analyses on automated data at 7 managed care organizations that participate in the Vaccine Safety Datalink (VSD). Eligible children included the 1997-2006 VSD cohort of patients who were aged 6 weeks to 23 months and had not received DTP during the study period. A seizure event (febrile or afebrile) was defined by International Classification of Diseases, Ninth Revision, Clinical Modification diagnoses assigned to an inpatient or emergency department setting. The exposed period was composed of a predefined 4 person-days after each DTaP dose. All of the remaining observation periods outside the exposed periods were categorized as unexposed. The risk-interval cohort method compared the incidence of seizures between the exposed and unexposed cohorts. In the SCCS method, the comparison was performed between the same patient's exposed and unexposed period. We identified 7191 seizure events among 433,654 children. The adjusted incidence rate ratio of seizures across all doses was 0.87 in cohort analysis and 0.91 in SCCS analysis. We did not observe an increased risk for seizures after DTaP vaccination among children who were aged 6 weeks to 23 months. These findings provide reassuring evidence on the safety of DTaP with respect to seizures.

Neurodevelopmental Impact of Antiepileptic Drugs and Seizures in the Immature Brain

Seizure incidence during the neonatal period is higher than any other period in the lifespan, yet we know little about this period in terms of the effect of seizures or of the drugs used in their treatment. The fact that several antiepileptic drugs (AEDs) induce pronounced apoptotic neuronal death in specific regions of the immature brain prompts a search for AEDs that may be devoid of this action. Furthermore, there is a clear need to find out if a history of seizures alters the proapoptotic action of the AEDs. Our studies are aimed at both of these issues. Phenytoin, valproate, phenobarbital, and MK801 each induced substantial regionally specific cell death, whereas levetiracetam even in high doses (up to 1,500 mg/kg) did not have this action. In view of our previously findings of neuroprotective actions of repeated seizures in the adult brain, we also examined repeated seizures for a possible antiapoptotic action in the infant rat. Rat pups were preexposed to electroshock seizures (ECS) for 3 days (age 5-7 days) before receiving MK801 on day 7. The effect of ECS, which was consistently a 30% decrease in MK801-induced programmed cell death (PCD), suggests that repeated seizures can exert an antiapoptotic action in the infant brain. In contrast, PCD induced by valproate was not attenuated by ECS preexposure, suggesting that valproate-induced PCD is mechanistically distinct from that induced by MK801 and may not be activity-dependent. Presently, we do not know if this neuroprotective effect of seizures is deleterious or beneficial. If the seizures also enhance the survival of neurons that are destined to undergo naturally occurring PCD, early childhood seizures may have deleterious effects by preventing this necessary component of normal development. While this effect of seizures might be counteracted by AEDs, the fact that several AEDs shift the PCD to the other extreme, and trigger excessive neuronal cell loss, raises concern about whether the drug therapy may be more detrimental than the seizures. In this context, it is encouraging that we have identified at least one AED that is devoid of a proapoptotic action in the infant brain, even in high doses. It is now important to evaluate the long-term consequences of the changes in PCD in infancy by examining behavioral outcomes and seizure susceptibility in the AED- and seizure-exposed neonates when they reach adulthood.

Thyrotoxic Periodic Paralysis

Tuberous sclerosis complex is a neurocutaneous and autosomal dominant disease characterized by multiple hamartomas in multiple viscera. It results from spontaneous mutation. The genetic anomaly is usually linked to the 9th chromosome. It may be accompanied by early childhood seizures, multiple brain tumors, skin lesions, angiomyolipomas in the kidneys and liver and rhabdomyomas. A careful physical examination, computerized tomography (CT) and magnetic resonance imaging (MRI) scans of the brain are essential in its diagnosis. In this study, we presented a 16 year old girl who was brought to our emergency service room due to acute loss of conscious and then underwent to ventriculo-peritoneal (V-P) shunt procedure after she had been diagnosed as acute hydrocephalus. The patient had been operated for intracranial mass when she was 2 years old and postoperative pathological diagnosis was established to be subepandimal giant cell astrocytoma (SGCA).

Tuberous Sclerosis And Acute Hydrocephalus

Tuberous sclerosis complex is a neurocutaneous and autosomal dominant disease characterized by multiple hamartomas in multiple viscera. It results from spontaneous mutation. The genetic anomaly is usually linked to the 9th chromosome. It may be accompanied by early childhood seizures, multiple brain tumors, skin lesions, angiomyolipomas in the kidneys and liver and rhabdomyomas. A careful physical examination, computerized tomography (CT) and magnetic resonance imaging (MRI) scans of the brain are essential in its diagnosis. In this study, we presented a 16 year old girl who was brought to our emergency service room due to acute loss of conscious and then underwent to ventriculo-peritoneal (V-P) shunt procedure after she had been diagnosed as acute hydrocephalus. The patient had been operated for intracranial mass when she was 2 years old and postoperative pathological diagnosis was established to be subepandimal giant cell astrocytoma (SGCA).

Febrile seizures and mesial temporal sclerosis.

The sequence of febrile seizures followed by intractable temporal lobe epilepsy is rarely seen from a population perspective. However, several studies have shown a significant relationship between a history of prolonged febrile seizures in early childhood and mesial temporal sclerosis. The interpretation of these observations remains quite controversial. One possibility is that the early febrile seizure damages the hippocampus and is therefore a cause of mesial temporal sclerosis. Another possibility is that the child has a prolonged febrile seizure because the hippocampus was previously damaged by a prenatal or perinatal insult or by genetic predisposition. Imaging studies have shown that prolonged and focal febrile seizures can produce acute hippocampal injury that evolves to hippocampal atrophy, and that complex febrile seizures can originate in the temporal lobes in some children. Several lines of evidence now indicate that genetic predisposition is an important causal factor of febrile seizures and mesial temporal sclerosis. From recent clinical and molecular genetic studies, it appears that the relationship between febrile seizures and later epilepsy is frequently genetic, and there are several syndrome-specific genes for febrile seizures. Mesial temporal sclerosis probably has different causes. A number of retrospective studies showed that complex febrile seizures are a causative factor for the later development of mesial temporal sclerosis and temporal lobe epilepsy. However, contradictory results have come from several prospective and retrospective studies. The association between febrile seizures and temporal lobe epilepsy probably results from complex interactions between several genetic and environmental factors.