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Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A ( CRPPA) mutation in different clinical manifestations. Case description: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). Conclusions: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.

Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene ( SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

Introduction: Landau-Kleffner syndrome (LKS), a very rare childhood disease, is acquired aphasia associated with epileptiform activity on the electroencephalogram (EEG). The clinical presentation of LKS may resemble autistic disorders in some children. In this article, a case who came to the Child and Adolescent Psychiatry outpatient clinic with autism symptoms but was diagnosed with LKS as a result of neurological examinations, showed significant improvement in autism symptoms after treatment is presented. Case: The boy aged 4 years 7 months was brought to the Child and Adolescent Psychiatry outpatient clinic with complaints of language regression, decreased interest in the environment, and impaired communication with peers and adults. After the neurological evaluations, the patient was diagnosed with LKS and antiepileptic treatment was started. An substantial improvement in language and social skills was observed within 1-3 months after adding corticosteroid therapy to the patient who did not benefit from antiepileptic treatment. Discussion: In this article, in cases where EEG pathology and autism symptoms did not improve with antiepileptic treatment in LKS; It has been reported that rapid improvement can be achieved in both neurological and autism symptoms after corticosteroid addition treatment. Although there is more information in the literature that known treatments are effective in improvement language regression in LKS, there are few case reports on reducing the accompanying autism symptoms.

© 2022 Elsevier Inc.Background: Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and subtype of CMS. Methods: A retrospective and cross-sectional study was performed with 16 patients with a genetically confirmed diagnosis of CMS to share our experience with clinical symptoms, demographic data, genetic variants, and treatments applied. Results: Sixteen patients with a specific CMS genetic diagnosis (three novel mutations) were identified, including CHRNE (n = 7), DOK7 (n = 2), AGRN (n = 2), RAPSN (n = 1), CHRNA1 (n = 1), CHRNB1 (n = 1), CHAT (n = 1), and SCN4A (n = 1). Age at onset of symptoms ranged from the neonatal period to 12 years. Genetic diagnosis was confirmed between the ages of three months and 17 years. A significant delay was determined between the onset of symptoms and genetic diagnosis of the disease. Conclusions: This study highlights the importance of genetic testing in CMS. Due to the rarity of CMS, more cases will be recognized and reported as the use of laboratory and genetic testing accelerates. We hope that our experience will grow and contribute further to the literature as clinical follow-up and treatment increase.

Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), also known as STK9 (serine/threonine kinase 9), is a gene that is thought to play a role in the production of proteins involved in the normal development of the brain, although its function is not known exactly. It is located in the p22.13 region of X chromosome. Some of the mutations reported in this gene have been found to be associated with epilepsy characterized with progressive seizures, non-epileptic autism and mild epilepsy phenotypes in infancy and early childhood despite treatment with at least two antiepileptic drugs (AED). In this study, we evaluated the relationship between 119C>T (A40V), 215T>A/C (I72N, I72T), 455G>T (C152P), 525A>T (R175S), 533G>A (G178D), 539C>T (P180L), 1330C>T (R444C) and 2635_2636delCT (L879E) polymorphisms in CDKL5 gene and intractable seizures and autism disorder. DNA extraction was performed after blood samples were collected. Identified mutations were analysed with Real-Time PCR method. The results obtained from the patient and control groups were compared. It was found that one female patient in the intractable seizure patient group carried the CDKL5 gene 525 A>T (R175S) mutation, while one female patient in the intractable seizure patient group carried the 539 C>T (P180L) mutation. It is thought that CDKL5 gene mutation research will be useful in the diagnosis of aetiology in new-borns that have intractable epilepsy despite AED treatment. The fact that CDKL5 mutant patients have autistic findings shows that this gene is among candidate genes for ASD, although no mutation was found in this patient group in our study. Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), STK9 (serine/threonine kinase 9) olarak da bilinen, işlevi tam olarak bilinmemekle birlikte beynin normal gelişiminde görev alan proteinlerin yapımında rol oynadığı düşünülen bir gendir. X kromozomunun p22.13 bölgesinde yerleşim gösterir. Bu gende bildirilen mutasyonların bir kısmı infantil dönemde ve erken çocuklukta en az iki antiepileptik ilaç (AEİ) tedavisine rağmen ilerleyen nöbetlerle karakterize epilepsi, epilepsisiz otizm ve ılımlı epilepsi fenotipleri ile ilişkili bulunmuştur. Bu çalışmada CDKL5 geninde 119C>T (A40V), 215T>A/C (I72N, I72T), 455G>T (C152P), 525A>T (R175S), 533G>A (G178D), 539C>T (P180L), 1330C>T (R444C) ve 2635_2636delCT (L879E) polimorfizmleri ile dirençli nöbet ve otistik bozukluk arasındaki ilişkiyi değerlendirdik. Kan örnekleri toplandıktan sonra, DNA eldesi yapıldı. Belirlenen mutasyonlar, gerçek zamanlı (Real-Time) PZR yöntemi ile araştırıldı. Hasta ve kontrol grubundan elde edilen sonuçlar karşılaştırıldı. CDKL5 geni 525 A>T (R175S), mutasyonunu dirençli nöbet hasta grubunda 1 kız çocuğunun, 539 C>T (P180L) mutasyonunu ise yine dirençli nöbet hasta grubunda bir kız çocuğunun heterozigot taşıdığı bulunmuştur. AEİ tedavisine rağmen dirençli epilepsili yenidoğanlarda CDKL5 geni mutasyon araştırmasının etyolojiye yönelik tanıda faydalı olacağı düşünülmektedir. CDKL5 mutant hastalarda otistik bulgulara rastlanması, çalışmamızda bu grup hastalarda mutasyon tespit edilmemiş olmasına rağmen hala OSB için bu geni hala aday genler arasında göstermektedir.

Background: Hot water epilepsy is a type of reflex epilepsy which generally occurs with pouring water on the body during bath. Objective: The aim of this study is to evaluate the clinical and electrophysiological features, treatment, and outcome of the pediatric patients with diagnosis of hot water epilepsy. Methods: Patients were followed and treated at Erciyes University, between January 2010 and January 2016. Results: There were 15 patients total, included 9 (60%) boys and 6 (40%) girls. The average age at diagnosis was 30 months (range: 13-60 months). The follow-up period was 16 months (range: 12-48 months). Seven patients (46.6%) had focal seizures with impaired consciousness, four (26.7%) had focal seizure and four (26.7%) had focal starting and generalized tonic-clonic continuing seizures. Seven patients (46.6%) had abnormal interictal EEG findings, ranged from unilateral slowing of the background activity to bilateral sharp wave. Intermittent clobazam treatment (0.8-1.2 mg/kg) was given to 13 patients (86.7%). Other epileptic treatments were used in 5 (33.3%) patients. Three patients (20.0%) developed nonreflex seizures during followup period. Conclusions: Intermittent clobazam prophylaxis prior to hot water bath, as well as changing bathing habits can be effective in pediatric patients with hot water epilepsy.

The essential characteristics of posterior reversible encephalopathy syndrome (PRES) are the presence of acute onset neurologic symptoms, focal vasogenic edema at neuroimaging, and reversible clinical and/or radiologic findings. This study aimed to evaluate the clinical findings, causes, radiologic findings, and prognoses of patients with PRES.Patients with PRES confirmed with clinical and radiologic findings by a pediatric neurologist were evaluated retrospectively.Seventeen patients with PRES were evaluated (mean age at onset, 10.23 ± 4.65 years; range, 2-17 years; girls, 29.4% [n = 5]). The mean length of follow-up was 6 ± 2.3 years (range, 3.4-10 years). Mortality due to primary disease occurred in 4 patients (23.5%) during follow-up. PRES was derived from renal diseases in 10 patients (58.8%), hematologic diseases in 6 patients (35.3%), and liver disease in one patient (5.9%). Hypertension was present in 16 patients (94.1%) at onset of PRES (99th percentile). Seizure, the most frequent initial symptom, was observed in 82.4% (n = 14). Blurred vision and headache were the initial symptoms in 3 patients (17.6%). Sequelae were observed at magnetic resonance imaging (MRI) in 6 patients. Development of epilepsy was determined as a sequela in 4 patients (23.5%) and mental motor retardation in 2 patients (11.8%).Epilepsy is uncommon in patients who have recovered from PRES. The presence of gliosis on MRI and interictal epileptic discharges on electroencephalograms are major risk factors for the development of epilepsy. Antiepileptic treatment can be stopped in the early period in patients with normal MRI and electroencephalogram by eliminating the factors that trigger the seizures.

BackgroundHuman coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency.MethodsClinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed.ResultsWe characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in COQ4. Correlation analyses of clinical and neuroimaging findings revealed three disease patterns: type 1: early-onset phenotype with neonatal brain anomalies and epileptic encephalopathy; type 2: intermediate phenotype with distinct stroke-like lesions; and type 3: moderate phenotype with non-specific brain pathology and a stable disease course. The functional relevance of COQ4 variants was supported by in vitro studies using patient-derived fibroblast lines. Experiments revealed significantly decreased COQ4 protein levels, reduced levels of cellular CoQ10 and elevated levels of the metabolic intermediate 6-demethoxyubiquinone.ConclusionOur study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ10 supplementation, alternative treatment strategies are warranted.

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1–3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians’ influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029). Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known:• Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections.• Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases.What is New:• Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly.• Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

Loss of function mutations in COQ4 lead to fatal neonatal mitochondrial disorders with CoQ10 deficiency. In two siblings with childhood-onset, slowly progressive ataxia from a consanguineous mating from Turkey, whole exome sequencing identified homozygous missense mutations in COQ4 (Gly55Val). Blood levels of CoQ10 were either below or at the low end of the normal range. The more severely affected of the siblings was given a high dose of CoQ10 (2000 mg/day) for one month, following which significant improvement in neurological signs and symptoms was noted. Our report indicates that COQ4 mutations are a rare cause of ataxia and that CoQ10 supplementation is a personalized treatment for this form of ataxia.

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of theThe study findings expand the phenotypic variability of the ocular manifestations in the

Aim Torticollis can originate from a wide variety of different disorders. Objective We aimed to investigate the underlying conditions in children with torticollis. Material and methods Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively. Results Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Six of the patients had ocular pathologies (strabismus, Duane syndrome, and Brown syndrome each in two patients). Four patients had otorhinolaryngological infections (Sandifer syndrome, esophageal atresia, reflux, and spasmus nutans, with one patient each). Detailed clinical physical examination and necessary laboratory investigation were performed for all patients. Conclusion Torticollis is a sign that is not always innocent and may herald an underlying severe disease. Misdiagnosis can lead to wrong and unnecessary surgical procedures and treatments, and sometimes, the results can be damaging due to underlying severe conditions if diagnosed late. In addition, we first report a case of vertebral hemangiomatosis and temporomandibular joint ankylosis that presented with torticollis in the English medical literature.

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine concentration. Molecular genetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p. S77R) was detected in the ARG1 gene. The second patient was admitted because of poor head control when he was aged 6 months. Microcephaly was detected in his physical examination, and basic metabolic tests were studied. Elevated levels of plasma arginine and orotic acid in urine organic acid analysis were compatible with argininemia. A homozygous mutation c.703G> C (p. G235R) was detected in the ARG1 gene and the diagnosis was confirmed. Arginineemia is a rare cause of progressive spastic diplegia. Patients may be mistakenly diagnosed as having cerebral palsy. Microcephaly may be the initial clinical finding of the disorder.

Purpose The purpose of this study was to evaluate the long-term results of eight cases diagnosed with tuberous sclerosis complex (TSC) and receiving rapamycin therapy because of epileptic seizures and/or accompanying TSC findings. Method Rapamycin therapy was initiated at a dose of 1.5 mg/m2. Seizure frequency, electroencephalographic (EEG) findings, renal and cranial imaging findings, and cutaneous lesions over 3- to 6-month periods during follow-up and treatment were evaluated. Results Four girls and four boys aged 4–16 years at the start of rapamycin therapy and now aged 9–24 years were evaluated. Duration of rapamycin therapy was 1–5 years, and the monitoring period after commencement of rapamycin therapy lasted 5–8 years. Positive effects were observed at 9–12 months in three out of six cases of renal angiomyolipoma (AML) and in the second year of treatment in one. An increase in AML dimensions was observed in three cases after treatment was stopped. Seizure control was established in the first year of rapamycin therapy in all cases. An increased frequency of seizures was observed in three cases after the second year of treatment. No seizure recurrence was determined in the second year of treatment with rapamycin in five out of eight cases. Recurrence of seizure was observed in 6–12 months after the discontinuation of rapamycin in three cases. Conclusion Rapamycin therapy exhibits positive effects on epileptic seizures in cases of TSC in 1–2 years but these positive effects on seizure control of rapamycin therapy decline after the second year. Larger case series are still needed to determine the duration and effectiveness of treatment in childhood.

Objective To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. Methods Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression. Results All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth. Interpretation DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.

Objectives: Wilson’s disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. Methods: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10–22 years) and 14 age-matched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using two-sample t-test. Results: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). Conclusion: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.

Stroke is rarely seen in children, but it is a major cause of morbidity and mortality. Therefore, there is a need for inexpensive and noninvasive diagnostic methods for estimating the prognosis. Although the prognostic importance of hematological parameters in acute ischemic stroke were reported in adult studies, there is a lack in pediatric ages. The aim of the study is to investigate the relationship between hematological parameters and prognosis of acute ischemic stroke in children. Retrospectively scanned in the study were 106 pediatric patients with acute ischemic stroke who managed at the Medical Faculty of Erciyes University, Kayseri, between the years of 2000 and 2014. White blood count (WBC); neutrophil, lymphocyte, and platelet count; mean platelet volume (MPV); platelet distribution width (PDW); neutrophil count/lymphocyte count (N/L) ratio values obtained from the measurements and initial symptoms; demographical features; risk factors; neurological examination; and clinical follow-up were recorded. Their hematological parameters were compared with those of 106 age and sex-matched healthy individuals. MPV and PDW values were found similar in patient and control groups, and the platelet count was found significantly low in the control group (p = 0,028). WBC, neutrophil count, and N/L ratio were found considerably high in the patient group (p

Background Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. Method We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. Conclusions Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.

Background Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). Objective The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. Methods The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. Results The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. Conclusions Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Aim: This study investigated the effect of antiepileptic drug monotherapy on cognitive functions in pediatric epilepsy patients. Methods: 98 recently diagnosed epilepsy patients aged 6-16 years were included. All patients underwent routine laboratory tests, electroencephalography, brain magnetic resonance imaging, and intelligence testing. The patients were treated with valproic acid (VA), carbamazepine (CBZ), oxcarbazepine (OXC), or levetiracetam (LEV). The Wechsler Intelligence Scale for Children (WISC-R) was applied three times, before, six months and 12 months after the start of antiepileptic therapy. Results: No significant difference was determined among the mean verbal, performance and total intelligence scores of patients using a single antiepileptic drug at baseline, after six or 12 months. Conclusion: We conclude that the type of antiepileptic drug using has no adverse effects on cognitive functions.

Background Shuddering attacks (SA) are one of the most common childhood paroxysmal nonepileptic events (PNEs). These attacks usually start between the first 4th and 6th months of life with rapid tremors of the head and adduction of the arms and knees. A number of factors including eating, breastfeeding, and playing stimulating games have been shown to trigger the attacks; however, the exact pathogenesis remains unknown. It has been stated that there is no need for further research in patients diagnosed, and spontaneous regression is expected. Purpose This study aimed to identify the causes, accompanying clinical conditions, possible differential diagnosis of SA, and the role of video-electroencephalogram (V-EEG) recording for accurate diagnosis. Methods Nineteen cases with SA have been collected from the database of Erciyes University Pediatric Neurology Clinic, where 52.6% are boys (n = 10) and 47.6% are girls (n = 9). The relationship between the onset and disappearance of SA symptoms and variables including family history, birth history, age, sleep, teething during SA, video-EEG recordings, brain imaging, and accompanying conditions such as epilepsy have been investigated by retrospective analysis. Results Four cases were found to have gastroesophageal reflux, one had epilepsy, and one had Marcus Gunn Jaw Winking Syndrome. No accompanying conditions could be identified for rest of the cases. It was observed that onset of symptoms in 15 (78.9%) of 19 cases coincided remarkably with the period of teething. Conclusion We speculate that there might be an indirect link between SA and teething and teething may be a triggering or an aggravating factor for SA.

Background Gastroesophageal reflux disease (GERD) can mimic epileptic seizure, and may be misdiagnosed as epilepsy. On the other hand, GERD can be more commonly seen in children with neurological disorders such as cerebral palsy (CP); this co-incidence may complicate the management of patients by mimicking refractory seizures. Objective The purpose of our study was to evaluate the clinical features, definite diagnoses and treatment approaches of the patients with clinically suspected GERD who were referred to the division of pediatric neurology with a suspected diagnosis of epileptic seizure. We also aimed to investigate the occurrence of GERD in children with epilepsy and/or CP. Methods Fifty-seven children who had a final diagnosis of GERD but were initially suspected of having epileptic seizures were assessed prospectively. Results All patients were assigned to 3 groups according to definite diagnoses as follows: patients with only GERD who were misdiagnosed as having epileptic seizure (group 1: n =16; 28.1%), those with comorbidity of epilepsy and GERD (group 2: n =21; 36.8%), and those with the coexistence of GERD with epilepsy and CP (group 3: n =20; 35.1%). Five patients (8.8%) did not respond to anti-reflux treatment and laparoscopic reflux surgery was performed. The positive effect of GERD therapy on paroxysmal nonepileptic events was observed in 51/57 (89.5%) patients. Conclusions GERD is one of the important causes of paroxysmal nonepileptic events. In addition, GERD must be kept in mind at the initial diagnosis and also in the long-term management of patients with neurological disorders such as epilepsy and CP.

This study aimed to investigate adaptation of the modified checklist for autism in toddlers (M-CHAT) in a large community sample in Kayseri, a central Anatolian city in Turkey. The M-CHAT was administered to 2021 parents of healthy toddlers aged 18-30 months by a trained team by face-to-face interview at family health centers. Screen positive children and randomly selected screen negative children were evaluated by a child psychiatrist according to diagnostic and statistical manual of mental disorders, text revision (DSM-IV-TR) criteria and childhood autism rating scale (CARS). Screen positive children were re-evaluated at 3 years of age. The M-CHAT detected both cases of autism spectrum disorders that were diagnosed. Cronbach's alpha was found to be 0.84 for the 23 items and 0.79 for the 6 critical items. Although the M-CHAT originally was designed to be filled by the parents, this study showed that, in Turkey, the M-CHAT can be used as a screening tool by face-to-face interview method at well child visits. (C) 2015 Elsevier Ltd. All rights reserved.

Aim: Moyamoya disease (MMD) is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA) and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years). The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months). Neurological findings at presentation included: motor deficit in 4 patients (80.0%), epileptic seizures in 2 patients (40.0%), movement disorders in 3 patients (60.0%), and headache in 1 patients (20.0%). There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

162 Canpolat et al. Basilar Artery Dissection and HOD Erciyes Med J 2015; 37(4): 162-5 163 Figure 1. a, b. Axial non-enhanced CT images at the level of the pons (a) and lateral ventricles (b) does not show any abnormality CT: computed tomography a b Figure 2. a, f. Axial T2-weighted images at the level of the cerebellum and brain stem (a-c) show hyperintense signal changes in the bilateral cerebellar hemispheres, which is predominant on the right side and in the pons, consistent with infarction. Diffusion-weighted images (b=1000) (d, e) reflect these changes as restricted diffusion. Besides, another focal area of infarction is demonstrated on the right side of the splenium of the corpus callosum (f) on diffusion-weighted image, which is not appreciated on T2-weighted images a

Anterior spinal artery infarction is extremely rare in children; it is caused by the hypoperfusion of the anterior spinal artery, leading to ischemia. Patients typically present with acute paraparesis or quadriparesis, depending on the level of spinal cord involvement. In general, it is clinically diagnosed, and neuroimaging is used to confirm the diagnosis and exclude other conditions. There are only a few reports in the pediatric literature characterizing the etiology, diagnosis, treatment, and prognosis of spinal cord infarction. It is associated with moderate-to-severe disabilities and a high mortality rate. Here we report an unusual case wherein a 12-month-old male developed spinal cord infarction following surgery to repair the coarctation of the aorta. Spinal magnetic resonance imaging showed bilateral hyperintensity corresponding to the anterior horns of grey matter in the conus.

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p

Background Wilson’s disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration. It is important to diagnose WD before central nervous system involvement. Purpose To demonstrate the early susceptibility changes associated with the copper accumulation in the brain of neurologically asymptomatic pediatric patients with WD using quantitative susceptibility mapping (QSM). Material and Methods Twelve patients with neurologically asymptomatic WD (mean age = 13.7 ± 3.3 years) and 14 age-matched controls were prospectively examined using a 1.5-T clinical scanner. Routine magnetic resonance (MR) sequences and a three-dimensional multi-echo spoiled gradient echo (GRE) sequence were used and QSM maps were reproduced. The quantitative susceptibility of corpus striatum, thalamus, substantia nigra, and pons were analyzed with the region of interest analysis on QSM maps. The susceptibility values of two groups were statistically compared using a two-sample t-test. Results Conventional MR images of the patients and control group were similar. However increased magnetic susceptibility in the thalamus, pons and left posterior putamen were observed in the patients compared to the control group ( p Conclusion We observed statistically increased susceptibility values in the brains of neurologically asymptomatic patients with WD although the conventional MR images were normal. This might be compatible with early brain impairment, before neurological symptoms occur.

WOS: 000454206700001, Objective: Febrile convulsion is the most frequently observed type of convulsion in childhood. Our aim in this study is to identify etiological factors, risk factors for recurrence and recurrence rate by determining demographic characteristics of the patients with febrile convulsions. Methods: We identified etiological factors, risk factors for recurrence and recurrence rates by retrospectively determining sociodemographic characteristics of 500 patients with available medical files who presented with febrile convulsions to Pediatric Emergency Outpatient Department of Erciyes University. Results: The male: female ratio was 1.14: 1. Mean age of the patients was 26.920 +/- 18.366 months. There was a positive family history of febrile convulsions in 35.8% of the patients. Simple febrile convulsions were observed in 80.8% whereas complicated febrile seizures in 19.2% of the patients. In our study, body temperature was below 39 degrees C during convulsions in 88.6%, while it was above 39 degrees C in 11.4% of the patients. In agreement with the literature, the risk factors for febrile convulsions included age younger than 18 months and family history of febrile convulsions in our study. In our study, the parameters causing recurrence of febrile convulsions were detected as experiencing febrile seizure before 18 months of age, family history of febrile seizure, family history of epilepsy and body temperature below 39 degrees C during seizure. Conclusion: The likelihood of recurrence of febrile convulsions was higher in children with positive family history for febrile seizure, those experiencing febrile convulsions before 18 months of age and/or at low body temperature. Knowing risk factors for recurrence of febrile convulsions is important for providing accurate information to parents, relieving anxiety levels and preventing unnecessary prophylactic therapies.

Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density lipoprotein (HDL) levels. Peripheral neuropathy can be seen in approximately 50% of patients with TD, which usually occurs after the age of 15 years, and is characterized by relapsing-remitting mono- or polyneuropathy or syringomyelia-like neuropathy. Herein, we report a 16-year-old female patient who was initially diagnosed with peripheral neuropathy at the age of 13 years. Whole exome sequencing was performed, and a nonsense mutation (p.Arg1817X) in ABCA1 was identified. The patient was investigated for systemic findings of TD after the genetic diagnosis was made, and low (< 5 mg/dL) levels of HDL cholesterol were detected by lipid electrophoresis. Other family members were reexamined after the diagnosis of the proband, and asymptomatic sister of the proband was diagnosed with TD. We would like to emphasize that TD should be considered in the differential diagnosis of pediatric patients presenting with peripheral neuropathy; furthermore detection of HDL levels by lipid electrophoresis is a simple but indicative diagnostic test.

The aim of this study was to investigate the relationship between autism spectrum disorders development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), 1 of the endocrine disruptors, among phthalates. The study included 48 children with autism spectrum disorder (27 boys, 21 girls) and 41 healthy subjects (24 boys, 17 girls) as controls. Serum MEHP, DEHP, and BPA levels were measured by using high-performance liquid chromatography. Children with autism spectrum disorder had significantly increased serum MEHP, DEHP, and BPA concentrations (0.47 +/- 0.14 mu g/ml, 2.70 +/- 0.90 mu g/ml, 1.25 +/- 0.30 ng/ml) compared to healthy control subjects (0.29 +/- 0.05 mu g/ml, 1.62 +/- 0.56 mu g/ml, 0.88 +/- 0.18 ng/ml) respectively (P = .000). The fact that higher serum MEHP, DEHP, and BPA were found levels in the autism spectrum disorder group compared to healthy controls suggests that endocrine disruptors may have a role in the pathogenesis of autism spectrum disorders.

Salmonella typhi is a Gram-negative, motile aerobic bacillus with non-encapsulated, non-sporulating rods from the Enterobacteriaceae family. Salmonella can localize in any organ or tissue. Focal intracranial infections caused by Salmonella species are uncommon manifestations of salmonellosis in developed countries and are often associated with diarrheal diseases and malnutrition. Salmonella meningitis is a serious disease that could lead to death and damage in infants. We report a case of a 4-month-old infant with meningitis and subdural empyema caused by Salmonella typhi . Management included treatment with neurosurgical drainage and a prolonged course of antibiotics.

West syndrome (WS) is an epileptic syndrome of early childhood. There have been a limited numbers of studies of cerebrospinal fluid (CSF) excitatory amino acid (EAA), nitric oxide (NO), and malondialdehyde (MDA) levels, as well as plasma levels of EAA, and NO, in WS. In this article, CSF EAA, NO, and MDA levels and plasma EAA, NO status, and a determination of the effects of antiepileptic drug therapy on these values were investigated in children with WS. Evaluation of CSF and serum EAA, NO, and MDA levels and of serum EAA and NO levels after 3 mo of antiepileptic drug therapy revealed a statistically significant decrease in CSF aspartate, glutamate, NO and MDA levels. In conclusion, the decrease in CSF MDA levels in this study is the result of both the decrease in glutamate activity and neuronal damage after controlling seizures with antiepileptic drugs.

The aim of this study is to investigate the spectrum of underlying disease in children with torticollis. We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Of the 20 children (13 girls and 7 boys with the mean age of 8 years, ranging 2 months–12 years), eight of them have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five (congenital vertebral anomalies including hemivertebrae, blocked vertebra, and segmentation anomalies), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and microphthalmia), Sandifer syndrome, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected. Ten patients underwent surgery; two patients received medical therapy for reflux and benign paroxysmal torticollis; and one patient with torticollis due to muscle spasm and soft tissue inflammation was treated with physiotherapy. Various underlying disorders from relatively benign to life-threatening conditions may present with torticollis. The first step should be always a careful and complete physical examination, which must include all systems. Imaging must be performed for ruling out underlying life-threatening diseases in children with torticollis, particularly, if acquired neurological symptoms exist. Besides craniospinal tumors, ophthalmological problems and central nervous system infections should also be kept in mind. Moreover, early diagnosis of these disorders will reduce mortality and morbidity. Therefore, alertness of clinicians in pediatric and pediatric neurosurgery practice must be increased about this alert symptom.

Congenital dyserythropoietic anemia type II belongs to a subtype of bone marrow failure syndrome, which is characterized by monolineage involvement and typical morphologic abnormalities in erythroid precursor cells resulting in different degrees of hyporegenerative anemia. Moreover, reticulocytosis, which is not corresponding to the degree of anemia, with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality. Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia.

Gonadotropin-releasing hormone analogues are common treatment option in central precocious puberty in childhood as well as in endometriosis, infertility, and prostate cancer in adults. Pseudotumor cerebri is a rare side effect observed in adults. We present the case of a girl with precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after the 4th dose. She had headaches, and her blood pressure was detected to be above the 99 percentile. There were no causes underlying of hypertension such as cardiac, renal, or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was elevated. Triptorelin therapy was ceased and acetazolamide was applied; CSF pressure returned to normal. We observed pseudotumor cerebri after precocious puberty treatment, a finding for the first time ever seen in childhood.

PubMedID: 28694135 Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (

Neuroblastoma is the most common extracranial solid tumor of childhood originating from sympathetic nervous system cells. Neuroblastoma has also been diagnosed in conjunction with other congenital conditions such as Hirschsprung's disease, congenital hypoventilation disorder, and neurofibromatosis type 1. Wolf-Hirschhorn syndrome is a congenital disorder caused by microdeletion of short arm of chromosome 4 encoding MSX1 gene with characteristic facial features. We describe a child with dysmorphic features, developmental delay, mental retardation who developed neuroblastoma at 2 years of age and cytogenetic analysis of blood lymphocytes revealed an interstitial deletion of 4p(15,2). To best our knowledge, this report is the first report of neuroblastoma in a child with Wolf-Hirschhorn syndrome; and the reported association may be an important clue for oncological follow-up of patients with Wolf-Hirschhorn syndrome.

WOS: 000411302400005 PubMed ID: 28624463 Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG). Next generation sequencing revealed novel biallelic homozygous mutations in SPEG in both cases. Patient 1 showed the c.1627_1628insA (p.Thr544Aspfs*48) mutation and patient 2 the c.9586C>T (p.Arg3196*) mutation. The clinical phenotype was distinctive in the two patients since patient 2 developed a dilated cardiomyopathy with milder myopathy features, while patient 1 showed only myopathic features without cardiac involvement. These findings expand the genotype phenotype correlations after the initial report. Additionally, we describe whole body muscle MRI of patient 2 and we argue on the different SPEG isoforms in skeletal muscle and heart as the possible explanation leading to variable phenotypes of SPEG mutations. (C) 2017 Elsevier B.V. All rights reserved. Muscular Dystrophy Association, USAMuscular Dystrophy Association [255889]; Deutsche Forschungsgemeinschaft, GermanyGerman Research Foundation (DFG) [CI 218/1-1]; Clinica Las Condes, Santiago, Chile [PIDA. 2014-002]; Ministry of HealthMinistry of Health - Turkey [Finalizzata 201201X002951]; TelethonFondazione Telethon [GUP13004]; FONDECYTComision Nacional de Investigacion Cientifica y Tecnologica (CONICYT)CONICYT FONDECYT [1151383] Our patients and their parents are gratefully acknowledged. This work was supported by Muscular Dystrophy Association (255889), USA, and Deutsche Forschungsgemeinschaft (CI 218/1-1), Germany grants to Dr. Sebahattin Cirak. Clinica Las Condes, Santiago, Chile: PIDA. 2014-002, grants to Dr. Claudia Castiglioni, Ministry of Health Grant Finalizzata 201201X002951 and Telethon GUP13004 grants to Fabiana Fattori and Enrico Bertini and Grant FONDECYT 1151383 to Jorge Bevilacqua.

Traditionally, Morus rubra L. (Moraceae) (red mulberry) and Cornus mas L. (Cornacea) (cornelian cherry) fruits are eaten fresh and are also used in marmalades, juices, jam, natural dyes in Turkey and are believed to have beneficial effects in case of multiple health issues such as antipyretic, diarrhea and intestinal parasites. However, the effects of M. rubra and C. mas on epilepsy has not been known. This study evaluates the effects of M. rubra and C. mas extracts on penicillin-induced epileptiform activity. Sixty Wistar rats randomly divided into ten groups (n=6): control, sham, penicillin, penicillin+M. rubra extract (2.5, 5, 10, 20 mg/kg) and penicillin+C. mas extract (2.5, 5, 10 mg/kg). Epileptiform activity was induced by using penicillin (500 IU, i.c.) and electrocorticogram records (150 min) were obtained. Also, biochemical analysis in blood samples were evaluated. According to the electrocorticogram analysis, the effective dose was detected as 10 mg/kg for both C. mas and M. rubra. This dose decreased the spike frequencies of convulsions while amplitude wasn't changed by both substances. In erythrocyte studies, there were significant differences regarding nitric oxide in the control, sham and penicillin groups. There were significant differences regarding malondialdehyde in all groups. In the plasma, there were significant differences among groups regarding xanthine oxidase in the penicillin‑C. mas and penicillin‑M. rubra groups. There were differences regarding malondialdehyde in the penicillin-C. mas and M. rubra-C. mas groups. Both extracts reduced the frequency of epileptiform activity. After administration of the extracts malondialdehyde levels decreased also in both erythrocytes and plasma.