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Objectives Cerebral palsy (CP) is one of the most common causes of serious physical disability in childhood and is a persistent movement disorder before the age of three. This disorder can negatively affect both the child and their family. In recent years, the use of melatonin as a safe, effective, and cheap drug has been expanding in improving the sleep disorders of these children. Therefore, this study aimed to investigate melatonin's effect on sleep disorders in children with CP. Materials & Methods This double-blind clinical trial was conducted on children aged 2 to 12 years with CP who were referred to the pediatric neurology clinic for sleep problems. The participants were included in the study by convenience sampling. After obtaining informed consent from parents, patients were divided randomly into two intervention (melatonin) and control (placebo) groups. In the intervention group, patients received oral melatonin tablets, and in the control group, patients received a placebo (3 mg oral lactose) 30 minutes before going to sleep. Results The results of this study showed no significant relationship between age and gender with sleep disorders in children with CP (P < 0.05). A significant effect of melatonin on sleep disorders was found in children with CP. The greatest effect of melatonin is the time required to start falling asleep. Melatonin was associated with decreased time needed to fall asleep and increased sleep duration. Conclusion The results of the study demonstrated that sleep disorders are prevalent among children with CP. Therefore, proper and timely treatment of these children is crucial. According to the present study's findings, melatonin effectively improves the time of falling asleep and these children's sleep duration. [ABSTRACT FROM AUTHOR]

Objectives Precise and early diagnosis of neonatal asphyxia may improve outcomes. Recent studies aim to identify diagnostic biomarkers in neonates at risk for brain damage. The current study was designed to evaluate the diagnostic value of new biomarkers for neonatal asphyxia. Materials & Methods This prospective study was conducted with an available sampling of infants upper 35 weeks of gestational age, including neonates with asphyxia (case group) and healthy controls, 2014-2022, in Ghaem Hospital, Mashhad, Iran. Data collection was performed utilizing a researcher-made questionnaire, including maternal and neonatal characteristics, as well as clinical and laboratory evaluation. Serum umbilical cord levels of interleukin-6 (IL6), interleukin-1-beta (IL-1β), pro-oxidant-antioxidant balance (PAB), and heat shock protein-70 (HSP70), as well as nucleated red blood cells count (NRBC), were determined. Data were analyzed by t-test, Chi-square, receiver operating characteristic (ROC), and regression models. Results The differences in variables IL6, IL1β, PAB, NRBC/100WBC, and HSP70 were statistically significant between the two groups (in all cases, P<0.0001). In the diagnosis of asphyxia, the most sensitive marker (89%) was IL1β more than 2.39 pg/ml and HSP 70 upper than 0.23 ng/ml, while IL6 was higher than 9pg/ml, determined as the most specific marker (85%). Furthermore, a combination of HSP + PAB and IL6 + lL1b + PAB + NRBC/100WBC possesses the prediction power of 93.2% and 87.3%, respectively, for diagnosing asphyxia. Conclusion According to data analysis, the combination of new biochemical markers (NRBC count, IL6, IL1β, PAB, and HSP 70) could be a reliable marker for diagnosing infants with asphyxia. [ABSTRACT FROM AUTHOR]

Objectives Epilepsy is the most prevalent chronic neurologic disorder in children. One-third of patients with epilepsy do not respond to antiepileptic drugs. This condition is known as intractable epilepsy. Previous studies have shown the beneficial effects of curcumin in the treatment of epilepsy. There are no randomized controlled clinical trials assessing the use of curcumin in epilepsy. This study aimed to evaluate the effects of nanomicelle curcumin on intractable pediatric epilepsy. Materials & Methods This double-blinded randomized crossover clinical trial was performed by a consecutive sampling to select 22 patients with intractable epilepsy divided into two groups. Patients received a daily dose of 4 mg/kg of curcumin or placebo as add-on therapy for 4 weeks. After a 2-week washout period, the treatment was replaced, and the new treatment was given for another 4 weeks. The SPSS software version 16 was used for statistical analysis. The study was approved by the Ethics Committee of Mashhad University of Medical Sciences, Iran. Results A total of 22 children were enrolled in this study, 11 of which were boys. The mean age of the patients was 4.28±5 years. A female patient taking a placebo was excluded in the first week of the trial due to parental dissatisfaction. The most common type of seizure among our patients was a generalized myoclonic seizure (42.9%). The mean number of seizure attacks among the subjects was 68.76±69.26 preintervention and 39.85±39.41 at the end of the intervention, which represents a statistically significant difference (P=0.01). Conclusion Nanomicelle curcumin reduced the number of seizures significantly. Our results imply that curcumin treatment can help treat patients with intractable pediatric epilepsy. [ABSTRACT FROM AUTHOR]

Posterior reversible encephalopathy syndrome (PRES) has a broad spectrum of clinical presentations and radiological features. Diagnosis of PRES is established based on reversible clinical manifestations and sequential neuroimaging findings. Atypical MRI features include hemorrhage, restricted diffusion or contrast enhancement of lesions, and involvement of the temporal and frontal lobes, brainstem, basal ganglia, corpus callosum, cerebellum, and spine. Atypical PRES, with or without spinal cord involvement, is a rare presentation, especially in children. Until 2020, only five cases of PRES with spinal cord involvement (PRES-SCI) were reported in the pediatric population. Case Report Here, we present the youngest diagnosed case of PRES-SCI so far. According to the literature, all six cases of PRES-SCI showed high signal intensities on T2-weighted images of the brainstem and cervical cord, which had completely resolved in the follow-up MRI of the brain and spinal cord. All six patients had hypertension due to renal disease, except one girl with chemotherapy-induced hypertension. Headache, altered mental status, seizure, and visual impairment were the most common symptoms, respectively. Facial palsy was a remarkable warning sign in some patients before hospitalization. Although PRES-SCI is rare in children, since it is a reversible condition, prompt diagnosis and management can positively affect its prognosis. [ABSTRACT FROM AUTHOR]

Objective Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic and to report positive results. Materials & Methods This retrospective study was performed on patients, presenting to the pediatric neurology clinic of Ghaem Hospital in Mashhad, Iran, between March 2015 and March 2017, with various neurological disabilities and unrevealing workup before WES. The patients' clinical features and molecular diagnoses based on the WES results were reported in this study. Results The overall diagnostic yield of WES was 82.71% (67/81 patients). Two patients were excluded for the lack of data. Sixty-five patients with pathogenic or possibly pathogenic variants exhibited various abnormalities, including intellectual disability/developmental delay (n=44), seizure (n=27), developmental regression (n=11), myopathy (n=9), microcephaly (n=8), neuropathy (n=2), autism spectrum disorder (n=2), and neuromuscular disease (n=2). Overall, 93.84% of the patients were born to consanguineous parents. Also, 62 patients had an autosomal recessive disorder, and three patients had an autosomal dominant disorder. Conclusion The present findings indicating the high diagnostic yield of WES, besides the important role of this test in determining the etiology of non-specific and atypical presentations of genetic disorders, support the use of WES in pediatric neurology practice. [ABSTRACT FROM AUTHOR]

Nearly 70 million people worldwide suffer from epilepsy. Despite administration of routine antiepileptic drugs (AEDs), nearly 30% of seizures are resistant to treatment called drug resistant epilepsy (DRE). Since the epilepsy treatment may result in consequences of multi-drugs administration or sometimes invasive surgical methods in DRE, herbal treatment can be a good alternative choice due to its easy accessibility, lower cost and fewer side effects. Although turmeric has been one of a very commonly used dietary spices and traditional herbal remedies, its derivation as a newly introduced medicine-curcumin has not been used to a large extent. In this literature, we have reviewed the available trial researches, which studied specifically antiepileptic effect of curcumin. We searched databases of Science direct, PubMed and Google Scholar (2008 to 2016) with key words of turmeric, curcumin, Diferuloylmethane, Epilepsy, and Seizure to find the related references. The major extract of turmeric curcumin has found to have antiepileptic effect according to recent surveys. It not only has no critical adverse effect, but also can protect patients from other AEDs severe side effects. It also makes it possible to gradually decrease the dose of AEDs in long-term combination therapy. [ABSTRACT FROM AUTHOR]

Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS. [ABSTRACT FROM AUTHOR]

Many neurologic manifestations of Epstein-Barr virus (EBV) infection have been documented, including encephalitis, aseptic meningitis, transverse myelitis, and Guillain-Barre syndrome. These manifestations can occur alone or coincidentally with the clinical picture of infectious mononucleosis. EBV encephalitis is rare and is indicated as a wide range of clinical manifestations. We report a 10-year- old girl presented with fever, gait disturbance, and bizarre behavior for one week. The results of the physical examination were unremarkable. The diagnosis of EBV encephalitis was made by changes in titers of EBV specific antibodies and MRI findings. A cranial MRI demonstrated abnormal high signal intensities in the basal ganglia and the striatal body, especially in the putamen and caudate nucleus. EBV infection should be considered when lesions are localized to the basal ganglia. [ABSTRACT FROM AUTHOR]

Brucellosis is a multi-system infectious disease that presents with various manifestations and complications. Neurobrucellosis is an uncommon but serious presentation of brucellosis that can be seen in all stages of the disease. High index of suspicion, especially in endemic areas is essential to prevent morbidity from this disease. The case was an 11- year -old female patient who was admitted with a severe headache that was worsening over a period of 2 months. The day after each attack, she experienced transient right hemiparesia that was lasting less than one hour (TIA) as well as blurred vision and bilateral papilledema. Laboratory findings revealed serum agglutination Wright test positive at 1/320 and 2ME test positive at 1/160. A lumbar puncture showed a clear CSF with increased opening pressure (32 cmH2O), CSF examination was within normal range (pseudotumor cerebri).To our knowledge, there has been no report for recurrent TIA in pediatric neurobrucellosis in the base of pseudotumor cerebri. In endemic areas like Iran, unexplained neurological signs or symptoms should be evaluated for brucellosis. [ABSTRACT FROM AUTHOR]

Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders. Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs' disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI. [ABSTRACT FROM AUTHOR]

Ewing sarcoma (ES) is a highly malignant tumor originating from bones, exceptionally long bones. ES arising from the epidural extramedullary space, primarily the cervical region, is highly unlikely. There have been only six cases of cervical epidural extraskeletal Ewing sarcoma (EEES) in children reported in the literature, all of whom were older than seven years old. Four of seven cases, including the one mentioned in this study, were male (57%). Herein, we report a 1.5-year-old girl who presented with quadriparesis without cognitive impairment and had initially undergone a metabolic disorder evaluation. The spine MRI revealed a mass in the C2-T6 region, and she underwent a biopsy of the tumor via laminectomy. Microscopic examination confirms a diagnosis of ES based on immunohistochemistry. This is the first literature that presents an infant with EEES., Competing Interests: The authors declare no conflict of interest., (© 2024 The Authors. Published by Shahid Beheshti University of Medical Sciences.)

Objectives: Acute necrotizing encephalopathy of childhood (ANEC) is a rare, potentially life-threatening condition. This study aimed to identify clinical profiles and outcomes of ANEC while assessing the accuracy of severity scoring in the Iranian population., Materials & Methods: The present study collected demographic, clinical, laboratory, and radiological data from children diagnosed with ANEC. Severity was measured using the ANE-Severity Score (ANE-SS), while outcomes were assessed with the Glasgow Outcome Score (GOS). This research analyzed the relationship between these scores and various parameters for statistical significance., Results: Seven patients were included over three years, with an average age of 4.4±2.7 years (5 males). ANE-SS varied from moderate to high, with most patients experiencing moderate to severe disabilities, as indicated by the GOS. Significant correlations were found with initial serum magnesium levels, pupil light reactivity, and initial GCS score (P-value < 0.05)., Conclusion: Controlling initial magnesium levels may improve ANEC outcomes. Additionally, intact pupil light reactivity at admission was associated with a better prognosis., Competing Interests: The authors declared no conflicts of interest regarding the publication of this paper., (© 2024 The Authors. Published by Shahid Beheshti University of Medical Sciences.)

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA -related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infantile seizures., Cases: We report four individuals with a new phenotype of childhood-onset choreo-dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM&#95;002143.3:c.49C>T p.(Arg17*) in HPCA . Although the families are both Iranian, haplotype analysis of the exome data did not reveal a founder effect of the variant., Literature Review: A systematic review of articles on HPCA and dystonia published since the disease gene discovery (PubMed; search on July 09, 2022; search strategy "HPCA AND dystonia", "HPCA AND movement disorder", "hippocalcin AND dystonia", and "hippocalcin AND movement disorder"; no language restriction) resulted in 18 references reporting 10 cases from six families. HPCA -related dystonia was isolated or in various combinations with neurodevelopmental delay, intellectual disability, seizures, cognitive decline, and psychiatric comorbidity. Onset of dystonia ranged from infancy to early adulthood. Dystonia started in the limbs or neck and became generalized in most cases. Brain MRI was unremarkable in nearly all cases where performed. There was poor or no response to common antidystonic medications in most cases., Conclusions: Our case series expands the pheno-genotypic spectrum of HPCA -related disorder by describing childhood-onset choreo-dystonia as a new phenotype, reporting on a recurrent novel pathogenic nonsense variant in HPCA , and suggesting that exon 2 of HPCA might be a mutational hotspot., Competing Interests: Biological samples of pedigree A were collected as part of the SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award (Synaptopathies) funding (WT093205MA and WT104033AIA) and research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. The authors declare that there are no conflicts of interest relevant to this work., (© 2022 International Parkinson and Movement Disorder Society.)

Objectives: Infantile neuroaxonal degeneration (INAD) is a rare subgroup of neurodegeneration with brain iron accumulation (NBIA) disorders. This progressive disorder may develop during the early years of life. Affected individuals mostly manifest developmental delay and/or psychomotor regression as well as other neurological deficits. In the present study, we discussed 3 INAD patients diagnosed before the age of 10 by using Whole-Exome Sequencing (WES)., Materials and Methods: We evaluated 3 pediatric patients with clinical phenotypes of INAD who underwent WES. Sanger sequencing was performed for co-segregation analysis of the variants in the families. An in-silico study was conducted for identification of the molecular function of the identified genetic variants in the PLA2G6 gene., Results: We detected three novel genetic variants in the PLA2G6 gene including a homozygous missense (NM&#95;003560.2; c.1949T>C; p.Phe650Ser), a splicing (NM&#95;001349864; c.1266-1G>A) and a frameshift variant (NM&#95;003560.4; c.1547&#95;1548dupCG; p.Gly517ArgfsTer29). Since the variants were not previously reported in literature or population databases, we performed in-silico studies for these variants and demonstrated their potential pathogenicity., Conclusion: The current study reports novel genetic variants in the PLA2G6 gene in the Iranian population, emphasizing the importance of high-throughput genetic testing in rare diseases., Competing Interests: The authors do not have any conflict of intrest to declare.