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The objective of this study was to determine the nutritional status of children diagnosed with epilepsy and to evaluate adherence to the Mediterranean diet.This cross-sectional study was carried out with a total of 85 children aged 2-18 years and their parents who attended the outpatient paediatric neurology clinic of a university hospital. Socio-demographic, dietary, biochemical, lifestyle, and anthropometric data were collected. Adherence to the Mediterranean diet was assessed using the Mediterranean Diet Quality Index (KIDMED).Of the total children, 22.3% were classified as high adherers to the Mediterranean diet (55.4% moderate and 22.3% poor). According to BMI for age, 15.3% of the children were overweight, and 15.3% were obese. The ratio of energy from fat intake was found to be high. The mean dietary iron and sodium intakes of children with a high level of adherence to the Mediterranean diet were higher than those with moderate and low levels (p 0.05). The mean dietary cholesterol intake of those with low adherence to the Mediterranean diet (322.70 ± 166.63 mg) was found to be higher than those with high (237.43 ± 163.46 mg) and moderate (194.23 ± 182.71 mg) adherence (p 0.05). A positive and statistically significant relationship was found between the children's KIDMED index score and carbohydrate, fibre, soluble fibre, iron, potassium, calcium and magnesium values (p 0.05). There was no relationship between the children's KIDMED index scores and the number of seizures and anthropometric measurements (p 0.05).Majority of children diagnosed with epilepsy had moderate adherence to the Mediterranean diet, and that the KIDMED index might be used in the evaluation of healthy eating habits in children diagnosed with epilepsy.

Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.

Electroencephalography changes that occur during the transition from eyes-closed to the eyes-open state in resting condition are related to the early phase of sensory processing and are defined as activation. The present study aimed to reveal the potential deteriorations that may occur in the initial period of sensory processing in resting electroencephalography between children with subclinical hypothyroidism and a control group.Electroencephalographies of 15 children with subclinical hypothyroidism and 15 healthy children aged 10 to 17 years were recorded for 2 minutes for EC and 2 minutes for eyes-open conditions in resting state. Absolute electroencephalography band powers (μV2 ) within the delta, theta, alpha, and beta frequency bands were calculated in Fz, Cz, Pz, and Oz electrodes, respectively, for eyes-closed and eyes-open conditions.The results show that, although there was no noteworthy difference between the powers of the electroencephalography frequency bands of children with subclinical hypothyroidism and healthy children during the eyes-open condition, the alpha powers of the control group were significantly higher in all electrodes during the eyes-closed condition. Furthermore, the powers of all frequency bands were observed to decrease in the eyes-open condition in the control group. However, the same net decrease was not observed in the frequency powers of children with subclinical hypothyroidism.According to the results of this study, children with subclinical hypothyroidism may experience information processing impairments starting in the early stages of sensory processing.

The World Health Organization (WHO) announced a pandemic in December 2019 due to the SARS-CoV-2. In addition to typical findings, such as fever, fatigue and respiratory system symptoms, other system findings have also been described. In this article, we present a pediatric case, diagnosed with acute sensorimotor axonal neuropathy associated with SARS-CoV-2 to raise the awareness, that patients presenting with atypical symptoms may be infected with SARS-CoV-2.

Aim We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. Methods The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. Results Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5–6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3–7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. Conclusion The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition.

Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.Materials and methods: We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes. Results: According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and 28 (59.5%) patients had complex malformations of cortical development. Focal cortical dysplasia was the most common simple malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature.Conclusion: It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.

Objective: Status epilepticus is associated with high rates of morbidity and mortality; thus, early diagnosis and proper treatment are crucial. We aimed to study the etiology, clinical features, and treatment among pediatric patients with convulsive status epilepticus. Methods: The medical records of 100 patients were retrospectively obtained from pediatric intensive care unit. Etiology, clinical features, and treatment were interpreted by using Fisher exact test, χ test, and Spearman ρ correlation coefficient. Results: Seizures had stopped with the first-, second-, and third-line treatment in 29%, 36%, and 35% of the patients, respectively. Only phenytoin treatment was efficient; it has 32.3% rate in second-line treatment. Whereas mortality rate was 10%, morbidity rate was 14% during the follow-up. Epilepsy, hemiparesis, spastic tetraparesis, and mental retardation developed. Mortality was significantly much more in the patients with refractory seizure and cerebral palsy. Development of mental retardation was much higher in the male sex. Conclusions: Phenytoin is still one of the most efficient antiepileptic drugs. If the duration of status epilepticus can be shortened by prompt treatment, neurological complications may be prevented. WOS:000669248800007 32149989 Q3

Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression. We aimed to investigate PCDH19 mutations/deletions in patients with epilepsy and describe the clinical/molecular features. Methods: PCDH19 gene was analyzed in 35 Turkish female patients from 34 families with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification analysis. Additionally, array comparative genomic hybridization analysis was performed in patients with whole gene deletion. Results: We identified 2 different heterozygous mutations in 2 unrelated probands (5. 7%) which were located in exon 1. Additionally, whole gene deletions were detected in dizygotic twin girls (5. 7%), who had distinct clinical features and the deletion was inherited from the unaffected father. The second twin suffered more severe clinical manifestations including autistic features, behavioral problems, mild-moderate mental retardation and seizures, which were under control with multidrug regimen when compared with the first twin. Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.

Objective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. Methods: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. Results: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptıc syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy wıth genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. Conclusions: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.

Background Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP). Methods This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated. Results The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers. Conclusions Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition., Nestle Health Science, Istanbul, Turkey, This study was funded by Nestle Health Science, Istanbul, Turkey.

© 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.

Background. Seizures are one of the most common causes of pediatric admissions to hospitals in children. This study aims to identify the clinical profile and outcome of first seizures in children. Methods. Children who presented to the pediatric neurology outpatient clinic and pediatric emergency service with a first-time seizure and aged one month through 18 years old were enrolled to the study. At the time of the study, enrolled children were categorized into three study groups according to seizure characteristics: febrile seizure, nonfebrile-provoked seizure and, unprovoked seizure. Results. The study group consisted of 138 children. Of the 138 patients, 60 (43%) had febrile first seizures, 23 (17%) had nonfebrile-provoked first seizures, and 55 (40%) had unprovoked first seizures. The patients did not experience the recurrence of a seizure by the treatment of underlying cause at the eighteenth month and the eighth year follow-up in the nonfebrile-provoked seizure group. Among the children admitted for unprovoked first seizures, 33 (60%) patients had seizure recurrence during 18 month follow-up and 36 (82%) patients had seizure recurrence during eight year follow-up. Seizure recurrence rate was statistically higher in patients with abnormal EEG and cranial MRI findings in the unprovoked seizure group (p

Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-lin...

Introduction Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is important in the evaluation of LGMD. Methods In this report, we applied a custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FRKP, TTN, POMT1, ANO5, FKTN, POMT2, POMGnT1, DAG1, PLEC, GAA, GMPPB, HNRNPDL, TNPO3, LIMS2, POMK, TRAPPC11, ISPD) in 74 patients suspected of LGMD. Results In 25 (33.8%) out of 74 patients analyzed, one or more pathogenic/likely pathogenic variants in 13 different genes were detected. Six of the patients had the variants that were not found in databases and literature; thus, they were interpreted as novel pathogenic variants. Discussion The diagnosis rate achieved (33.8%) is consistent with previous literature reports and underlines the efficiency and importance of NGS technology in the molecular genetic evaluation of LGMD.

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

To examine the regional spinal curvatures and movements in the sagittal and frontal planes during sitting position, and the ability to act independently in patients with CP and to compare the differences between children and adolescents with minimal-to-moderate functional limitations.Twenty-one participants diagnosed with CP aged 5-16 years were included. The participants' Gross Motor Function Classification System (GMFCS) levels were determined and those at levels I (minimal functional limitation group: minFLG) or II-III (moderate functional limitation group: modFLG) were included. Spinal curvatures, mobilities, and inclinations in the sagittal and frontal planes were evaluated in the sitting position using a hand-held, computer-assisted non-invasive electromechanical device. Participants' functional independence levels were assessed with the Functional Independence Measure (WeeFIM).In the sagittal plane, there were no differences in terms of spinal curvatures between the minFLG and modFLG (p0.05). Spinal mobility degrees for flexion (thoracic and lumbar regions and total spine), extension (sacral region), and total spine mobility scores were significantly greater in the minFLG (p0.05). In the frontal plane, lumbar spinal curvature significantly increased, and total spine mobility in the right/left lateral motions and functional independence decreased in the modFLG (p0.05).The children/adolescents with minimal functional limitations had greater spinal mobility during flexion, extension, and lateral flexions. Spinal curvatures were similar between groups in the sagittal plane. The lumbar region posture scores in the frontal plane observed as lordoscoliosis were higher, and functional independence was lower in the modFLG.

Contains fulltext : 237881.pdf (Publisher’s version ) (Open Access) Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

OBJECTIVE Celiac disease may present with one or more neurological signs and/or symptoms. We aimed to define the incidence of accompanying neurological manifestations in children diagnosed as having celiac disease. METHODS The prospective study included 146 children diagnosed as having celiac disease. The medical records (presentation symptoms, clinical findings, serological test, duodenal biopsy results, lack/deficiency of vitamin, tissue type, accompanying autoimmune disorders) and demographic data of all patients were also reviewed. RESULTS Thirty-five (23.9%) of the 146 celiac patients exhibited one or more neurological findings. Headache (11.6%) and dizziness (6.1%) were the most common symptoms among neurological manifestations. There was a significant difference between the patients with and without neurological manifestations in terms of sex, biopsy result, and tissue type (P < 0.05). Moreover, there was a statistically significant difference between tissue types of the patients with and without headache (P < 0.05). We found that grade 3a by Marsh classification was the most common type among the patients with and without neurological findings in celiac disease. On neuroimaging evaluation of patients, 1 patient with chronic focal ischemic lesion, 1 patient with Chiari type 1 malformation, and 1 patient with subcortical white matter changes were identified. CONCLUSIONS Pathophysiology of neurological involvement in celiac disease is liable for various neurological findings. This study contributes to data suggesting that female sex, mild histopathological form, and human leukocyte antigen DQ2 heterozygosity are related to neurological manifestations, and also human leukocyte antigen DQ2 heterozygosity is associated with headache in celiac disease.

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.

Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse neurologic features. Indeed, disease progression is varying greatly within the different forms and current treatment modalities are exclusively symptomatic for HSP. Tremor in HSP patients is only mentioned with rare case reports, so treatment option is lack in clinical ground. We reported a case of a HSP-15 girl with a previously reported novel mutation of SPG15 complained of a life disturbing tremor and topiramate as a drug therapy for tremor in our HSP patient.

Neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder that causes progressive neurodegenerative disease as a result of storage in neurons and other cells. Late infantile type (NCL Type 2) of NCL, which is the most common neurodegenerative disease in childhood, is characterised by a homozygous mutation in the tripeptidyl peptidase-1 (TPP-1) gene. A male infant was referred to our neonatal intensive care unit (NICU) on 26th day of life with a diagnosis of metabolic disease. He was intubated. He was hypotonic and newborn reflexes were not present. Cranial magnetic resonance (MR) imaging revealed severe atrophy and delayed myelination of cerebellum and cerebral hemispheres. A novel homozygous pathological mutation was detected in exon 9 of the TPP-1 gene. With this case, it should be kept in mind that NCL may rarely start early in neonatal period and should be suspected in newborns with cerebral and cerebellar atrophy for early diagnosis. Key Words: Hypotonia, Lysosomal storage diseases, Metabolic disease, Neuronal ceroid lipofuscinosis, Newborn.

Purpose: This study aims to compare the neurocognitive outcome in term infants who were treated using phenobarbital (PB) and levetiracetam (LEV) monotherapy for neonatal clinical seizures. Methods: Term infants who were treated using PB or LEV monotherapy as the first-line anti-epileptic treatment for neonatal clinical seizures and followed-up in a pediatric neurology outpatient clinic were enrolled in this study. Neurodevelopmental outcome assessments were carried out using the Bayley Scales of Infant Development, third edition (BSID-III), including cognitive, receptive language, expressive language, fine motor and gross motor subscales. Results: the study group consisted of 62 infants who received monotherapy with PB monotherapy (n = 22) and LEV (n = 40). the mean duration of monotherapy treatment was 8 +/- 6 months. There was no statistically significant difference between PB and LEV monotherapy groups concerning each outcome parameter on the BSID-III. There was also no statistically significant difference between PB and LEV monotherapy subgroups excluding the infants with neurodevelopmental impairment with a BSID-III scale score < 7 or a composite score < 85. Conclusion: Our findings suggest that both LEV and PB therapy can be equally safe as monotherapy for neonatal clinical seizures for the neurodevelopmental outcome assessment with BSID-III.

Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-linked forms. HSPs are clinically classified into 'pure' and 'complicated' (complex) forms. SPG11 (

Background The aim of this study was to examine the cognitive functions of children with subclinical hypothyroidism (SH) and healthy children with the use of auditory event-related potentials (AERPs) and neuropsychological tests. Methods Twenty children aged between 8 and 17 years, diagnosed with SH, and 20 age-matched healthy controls were included in this study. A classical auditory oddball paradigm was applied during the electroencephalography (EEG) recordings, and event-related potentials (ERPs) were evaluated between the 0.5- and 20-Hz frequency intervals. P1, N1, P2, N2 and P3 amplitudes and latencies were measured in Fz, FCz, Cz, CPz, Pz and Oz electrodes. Additionally, a number of neuropsychological tests evaluating the reaction time and various cognitive functions were carried out. Results In children with SH, P3 amplitudes in FCz, Cz and CPz electrodes were significantly lower than those in controls (p Conclusions In the present study, while children with SH did not differ from controls with respect to their cognitive functions evaluated via neuropsychological tests, cognitive differences were detected via electrophysiological investigations. This result implies that implicit changes in cognition which are not yet overtly reflected on neuropsychological tests may be detected at an early stage in children with SH.

Alternating hemiplegia of childhood (AHC) is an infrequent neurological disorder characterized by recurrent transient attacks of hemiplegia that last minutes to days and impress either side of the body, dystonic or tonic attacks, and nystagmus. Cognitive or neurological deficits with progressive course are another findings. Epileptic seizures may occur in some patients. We report the medical treatment in a case of AHC in a-12-year-old male patient with convulsions. The patient did not respond to available therapies for AHC, except for aripiprazole. After the initiation of aripiprazole therapy, duration and frequency of hemiplegia episodes were decreased. Also, he is currently seizure-free with topiramate treatment for 3 months. On follow-up, a compound heterozygous ATP1A3 mutation c.868C > T (p.R290C)/c.684 + 1G > A was determined. Aripiprazole may reduce the attacks of AHC, which are resistant to other available therapies.

Objective The aim of this study was to describe the electroclinical spectrum in children with electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome according to the EEG patterns. Methods Clinical data of 44 patients with ESES/CSWS syndrome who were treated and followed at least two years were analyzed. Records of EEGs of patients were reevaluated to determine two aspects of the ESES pattern: (1) the spike–wave index (SWI) on the NREM sleep EEG (Group I: typical vs. atypical ESES pattern (33/11 patients)) and (2) the area of maximum amplitude of continuous epileptic activity (Group II: anterior vs. posterior ESES pattern (33/11 patients)). Results Symptomatic etiology was more defined in patients with the typical ESES pattern (40%) than the group with the atypical ESES pattern (9%) by a factor of four. All patients were receiving at least two antiepileptic drug (AED) treatments. Eighteen patients (41%) received AEDs plus ACTH therapy. Complete disappearance of the ESES pattern on the EEG was observed in 18 patients (41%), more than 50% reduction was observed in five patients (11%), less than 50% reduction was observed in eight patients (18%), and no response was observed in five patients (11%). No significant difference was found when comparing the groups in terms of reduction of seizures and the SWI. Seizure outcome at the two-year follow-up was similar between the group with ESES treated with AEDs plus ACTH and the group with ESES treated with AEDs without ACTH therapy. Significance This study demonstrated that the rate of the SWI (typical vs. atypical ESES) and the maximum amplitude of the ESES pattern (anterior vs. posterior) have no significant correlation with seizure control and reduction of the SWI on the EEG in children with ESES syndrome.

WOS: 000374616700003, PubMed ID: 26874856, Purpose: The purpose of this study was to assess the efficacy and safety of levetiracetam monotherapy in a pediatric population. Method: A retrospective review was performed of the charts of 351 consecutive children who were 6 months to 18 years of age and were treated with levetiracetam. Levetiracetam monotherapy was initiated and dosed to efficacy or unacceptable side effects, with a range of 10-112 mg/kg/day. Electroencephalographic examination was performed at pre-treatment and 12th months in the post-treatment period. Following the commencement of levetiracetam treatment, the retention rate at 3, 6 and 12 months was 100%, 75% and 57%, respectively. Results: The monotherapy retention rate at 3 and 12 months following the commencement of levetiracetam treatment was (231/351, 66%), and (126/200, 63%) respectively. A total of 165 (47%) patients had idiopathic epilepsy and 186 patients (53%) had symptomatic-cryptogenic epilepsy. The >90% seizure reduction rate was 65%, and the 50-90% seizure reduction rate was 14% at the 3rd month of treatment. Similarly, the >90% seizure reduction rate was 63%, and the 50-90% seizure reduction rate was 15% at the 12th month of treatment. EEG improvement (normalization of EEG) was observed in 65 (47%) patients. Overall, 61 (17%) patients showed adverse events. The most reported side effects were irritability (67%), hyperactivity (8%), somnolence (6%), behavioral disorders (5%), restlessness (5%), increased seizure frequency (3%), enuresis (2%), headache (2%) and attempted suicide (2%). Conclusion: The retrospective study of 231 consecutive pediatric patients to confirm that levetiracetam is effective as initial monotherapy for different types of seizures and/or epilepsy syndromes. However there is still a need for well-designed trials to justify the widespread use of levetiracetam monotherapy in children with specific epilepsy syndromes. (C) 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

The chromosome 22q11.2 region is highly susceptible to both microdeletions and microduplications that have been known to be responsible for multiple congenital anomaly disorders. We describe a patient of 22q11.2 duplication syndrome presenting with bilateral ptosis who has normal psychomotor development. Cranial magnetic resonance imaging and electromyography with repetitive nerve stimulation were normal. Chromosome microarray analysis was performed, and the patient was found to have a de novo 2.8 Mb duplication at 22q11.21. To our knowledge, bilateral ptosis and normal psychomotor development with 22q11.2 duplication syndrome has not been described. The 22q11.2 duplication syndrome should be considered in the differential diagnosis of ptosis. This case report contributes to an expanding clinical spectrum of patients with 22q11.2 duplication syndrome.

Background We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations. Methods We summarize the genetic and clinical findings of previously reported patients with a MOCS2 mutation. We also present a new patient with novel neuroradiological findings associated with molybdenum cofactor deficiency due to a novel homozygous variant in the 5′ untranslated region of the MOCS2 gene. Results The study population comprised 35 patients with a MOCS2 gene mutation. All reported children had delayed motor milestones. The major initial symptom was seizures in neonatal period. Facial dysmorphism was present in 61% of the patients. Only one patient had ectopia lentis. Agenesis of the corpus callosum and an associated interhemispheric cyst in our case are novel neuroradiological findings. Conclusions The occurrence of neonatal seizures and feeding difficulties can be the first clinical signs of molybdenum cofactor deficiency. Although there is no effective therapy for this condition, early diagnosis and genetic analysis of these lethal disorders facilitate adequate genetic counseling.

WOS: 000501578900016 The diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should be considered in the differential diagnosis of the patients. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized with slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) in muscle biopsy specimens. The disease can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can result in an interhemispheric disconnection , neurologic problems such as mental retardation, and seizures. Unfortunately, there is no curative treatment for both of them. Herein, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.

Cavusoglu D, Olgac-Dundar N, Oztekin O, Ozdemir TR, Arican P, Gencpinar P. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. Turk J Pediatr 2018; 60: 216-220. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene.

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

Alparslan C, Kamit-Can F, Anil AB, Olgac-Dundar N, Cavusoglu D, Goc Z. Febrile infection-related epilepsy syndrome (FIRES) treated with immunomodulation in an 8-year-old boy and review of the literature. Turk J Pediatr 2017; 59: 463-466. Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epilepsy syndrome which is characterized by acute onset of refractory status epilepticus following a febrile infection occurring in previously normal children. Despite the various treatment options that have been tried, exact treatment strategy is still undetermined. This is the first pediatric case of FIRES from Turkey which was successfully treated with intravenous immunoglobulin (IVIG). A previously healthy 8-year-old boy was referred to our hospital with a pre-diagnosis of status epilepticus and encephalitis. He presented with acute onset of convulsions and unconsciousness following fever and malaise lasting 7 days. On physical examination Glasgow coma scale was 12, his pupils were miotic. He had cafe-au-lait spots on his body. His fundus examination, cerebrospinal fluid findings and cranial magnetic resonance imaging did not reveal any abnormality. Results of comprehensive search for metabolic, toxicological, infectious and autoimmune etiologies were all negative. Generalized slowing was seen on the electroencephalography (EEG) of the patient indicating possible encephalopathy. The patient developed convulsive status epilepticus and was intubated on day 5. His seizures were controlled by continuous infusion of midazolam, thiopental and used for 4 days. Phenytoin, levetiracetam, topiramate were used simultaneously. IVIG was administered as an immunomodulator for refractory seizures on day-9. The patient was extubated on day 11. The diagnosis was made after a comprehensive negative search for central nervous system infection, autoimmune and metabolic diseases. At follow up it was learnt that he had had only two seizures in two years. Status epilepticus did not recur. Clinicians should keep in mind FIRES which is a diagnosis of exclusion especially in refractory status epilepticus. IVIG treatment could have a benefit in these patients.

Objective: The aim of this study was to investigate the cognitive status of children with subclinical hypothyroidism (SH) before and after L-thyroxine (L-T4) treatment using event-related potentials (ERPs) and neuropsychological tests. Methods: This prospective study was conducted on a series of 20 children with mild SH (free T4 normal and thyroid-stimulating hormone level within 5-10 mu IU/L) who underwent clinical and cognitive assessment before L-T4 treatment and 6 months afterwards. The recordings of ERPs were done at the time of diagnosis and after 6 months of euthyroid state. Neuropsychiatric tests for attention, perception, close and remote memory were performed on all patients and on the control group which consisted of 20 healthy children of normal intelligence. Results: While pretreatment verbal memory (VM) and verbal recall (VR) scores of the SH group were significantly lower than those of the control group (p=0.004 and 0.012, respectively), no significant differences between the post-treatment and control groups were found in these scores after 6 months of L-T4 treatment. Post-treatment VM and VR scores were significantly higher than the pretreatment scores in the SH group (p=0.008 and p=0.0001). There were no significant differences between the pre- and post-treatment values of electrophysiological evaluation in N1, P2, P3 latencies or P3 amplitude (p>0.05), although there was a significant decrease in N2 latency in the post-treatment group (p=0.03). Conclusion: SH affects cognition in children and L-T4 replacement therapy leads to normalization of cognitive functions. Neuropsychological tests can be used as complementary measures in the evaluation of children with SH. Determining the association between ERPs and SH would contribute to the comprehensive evaluation of these children.