High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome.

Pseudotumor cerebri (PTC) is a disorder characterized by increased intracranial pressure in the absence of a structural lesion or other identifiable cause. Cytokines, which are involved in the regulation of immune responses and inflammation, have been implicated in the pathogenesis of PTC. In a prospective, cross-sectional study at three centers in Israel, we analyzed cerebrospinal fluid (CSF) samples from 60 children aged 0.

Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor Cerebri.

Pseudotumor cerebri (PTC) in children is a rare condition whose underlying cause remains largely unknown. No study has yet systematically examined viral infection as a cause of PTC. The current study aimed to characterize PTC in children and investigate the possible role of acute viral infection of the central nervous system in its pathogenesis.

Migraine abortive treatment in children and adolescents in Israel.

Migraine headaches in children may cause attacks that require abortive treatment. This study evaluated the incidence and efficacy of medications used for relieving migraine headache attacks in the pediatric population in Israel. Children 6-18 years of age who were diagnosed in our pediatric neurology clinic as having migraine headaches were enrolled into the study.

The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital.

Screening studies have shown detection of optic pathway gliomas (OPGs) in 8 to 31% of children with neurofibromatosis type 1 (NF1). Many of those affected show prolonged indolent phases, but others develop vision disturbances even before diagnosis and treatment. We assessed the clinical presentation at diagnosis, location, natural progression, and risk factors for impaired vision of OPG.

Optic Nerve Drusen Is Highly Prevalent Among Children With Pseudotumor Cerebri Syndrome.

The clinical presentation of pseudotumor cerebri syndrome (PTCS) usually includes headache, nausea, and vomiting with normal physical examination apart from papilledema and diplopia. However, pseudopapilledema, which can be caused by optic nerve drusen, may lead to misdiagnosis. The prevalence of optic nerve drusen in the general population is 0.

Behavioral Symptoms May Correlate With the Load and Spatial Location of Tubers and With Radial Migration Lines in Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous genetic disorder. The clinical manifestations are extensive and include neurological, dermatological, cardiac, ophthalmic, nephrological, and neuropsychiatric manifestations. The prediction and pathophysiology of neuropsychiatric disorders such as emotional symptoms, conduct problems, hyperactivity, and poor social behavior are poorly understood.

Rolandic Epilepsy - A Silent Enemy. An Instructive Case.

A child is described who was followed in our clinic due to attention deficit hyperactivity disorder (ADHD) and was found to have the following list of diagnoses: mild developmental delay, motor tics, learning disability, selective mutism and autistic-like features. These disorders became manifest and were diagnosed over a period of several years in the above-noted order. He never had seizures.

Trametinib for orbital plexiform neurofibromas in young children with neurofibromatosis type 1.

Introduction: Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) are usually diagnosed in childhood and can grow rapidly during this period. In 10% of patients, PNF involve the orbital-periorbital area and may cause visual problems including glaucoma, visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression, or keratopathy. Ptosis, proptosis, and facial disfigurement lead to social problems and decreased self-esteem.

Impact of a national population-based carrier-screening program on spinal muscular atrophy births.

Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier screening for SMA was introduced in Israel in 2008 through health-care services' insurance plans and expanded to the entire Israeli population in 2013 by a national health program. The aim of the study was to evaluate the impact of carrier screening on reducing the rate of birth of infants with SMA.

Prognostic Parameters of Acute Transverse Myelitis in Children.

Acute transverse myelitis is a rare and disabling disorder. Data on the imaging features in children are sparse. The aim of this study was to describe the clinical and magnetic resonance imaging findings characteristic of pediatric idiopathic acute transverse myelitis and to identify those with prognostic value.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct usage of polyA sites for mRNA termination. Using exome sequencing and international matchmaking, we identified nine likely pathogenic germline variants in SCAF4 including two splice-site and seven truncating variants, all residing in the N-terminal two thirds of the protein.

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years.

Pontocerebellar hypoplasia (PCH) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by cerebellar and pontine hypoplasia, progressive microcephaly, and developmental delay. Ten types of PCH have been described; PCH type 2A (PCH2A) due to a mutation in is the most frequent. Seizures have been reported in the large majority of patients.

Impairments in communication and social interaction in children with neurofibromatosis type 1: Characteristics and role of ADHD and language delay.

Background: Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder with increased risk of tumor formation and higher incidence of autism spectrum disorder (ASD) than the general population. The aim of the study was to assess the presence of ASD symptoms in young children with NF1 and to examine their potential association with attention deficit hyperactivity disorder (ADHD) and speech delay.

Methods: The cohort included 30 patients with NF1 attending the multidisciplinary NF1 clinic of a tertiary pediatric medical center from September 2015 through September 2016.

Handwriting in children with Attention Deficient Hyperactive Disorder: role of graphology.

Background: Handwriting difficulties are common in children with attention deficient hyperactive disorder (ADHD). The aim of our study was to find distinctive characteristics of handwriting in children with ADHD by using graphology to analyze physical characteristics and patterns, and to evaluate whether graphological analysis is an effective ADHD diagnostic tool for clinicians.

Method: The cohort included 49 children aged 13-18 years attending a tertiary neurology and epilepsy center in 2016-2017; 22 had a previous DSM-IV/V diagnosis of ADHD.

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors and colorectal carcinomas. Phenotypic overlap with Neurofibromatosis-1 is well known, with most patients presenting with café-au-lait macules.

Use of Optical Coherence Tomography to Detect Retinal Nerve Fiber Loss in Children With Optic Pathway Glioma.

Optic pathway glioma (OPG) presents in childhood and can cause significant morbidity and visual loss. Magnetic resonance imaging (MRI) is the current imaging modality of choice for evaluation of OPG progression, but it is a relatively limited resource often requiring sedation in the pediatric age group. Additionally, OPG progression on MRI does not always correlate with clinical progression.

Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test.

Background And Purpose: The objective of this study was to determine if the MOXO visual- and vocal-distractors-based continuous performance test distinguishes patients with attention deficit hyperactivity disorder (ADHD) and neurofibromatosis type 1 (NF1) from those without NF1.

Methods: Thirty-five patients (16 males; mean age 9.91 years) attending a multidisciplinary NF1 clinic completed the MOXO test.

Thick Corpus Callosum in Children.

Background And Purpose: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different.

Methods: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin.

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis).

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14 individuals with epileptic seizures was phenotyped including high-resolution 3-T MRI.

Development of Infants With Idiopathic External Hydrocephalus.

External hydrocephalus in an infant is a condition in which the rate of growth of head circumference exceeds the expectations of the Nellhouse curve together with increased size of the subarachnoid spaces. Developmental milestones of 20 infants (aged 0-16 months) with external hydrocephalus were studied by the Mullen Scales of Early Learning. The areas of development that were studied were visual reception, fine motor, expressive language, receptive language, and total Mullen score.