Long-Term Follow-Up of Patients with a Diagnosis of Posterior Reversible Encephalopathy Syndrome.

Objective: 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.

Methods: Patients with PRES confirmed with clinical and radiologic findings by a pediatric neurologist were evaluated retrospectively.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

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.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.

Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.

An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

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.

Levels of Salivary Sialic Acid in Children with Autism Spectrum Disorder; Could It Be Related to Stereotypes and Hyperactivity?

Objective: Sialic acid (Sia) is an essential nutrient for brain development, learning, memory and cognition and plays a role in neurodevelopment of infants. The aim of this study was to determine whether Sia levels are significantly associated with the autism spectrum disorder (ASD).

Methods: Forty-six ASD children and 30 typically developing children aged 3 to 10 years were included in the study.

Pepper spray inhalation-induced acute polyneuropathy mimicking Guillain-Barre syndrome.

Peripheral neuropathy is the most common reaction to toxic chemical substances in the nervous system. Toxic neuropathies are often misdiagnosed because there are no easily available specific or biologic tests for the diagnosis. Guillain-Barre syndrome is the most common cause of acute flaccid paralysis in children and adolescents.

The use of rapamycin in patients with tuberous sclerosis complex: Long-term results.

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/m.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

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.

Investigating the prevalence of febrile convulsion in Kayseri, Turkey: An assessment of the risk factors for recurrence of febrile convulsion and for development of epilepsy.

Purpose: The purpose of this study was to investigate the prevalence and recurrence of febrile convulsion (FC) and risk factors for development of epilepsy in school children throughout in the Kayseri provincial center.

Method: Ten thousand individuals selected using "stratified cluster sampling" from a student population of 259,428 inside the Kayseri Urban Municipality represented the study sample. Fifteen thousand questionnaires were distributed, of which 10,742 (71.

Glutaric Acidemia Type 1: A Case of Infantile Stroke.

Background: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms.

Case Report: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI.

Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1.

Background: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1.

Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.

 Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis.  The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings.  Our medical records database for 2003 to 2014 was screened retrospectively.

The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria.

The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.

Neurological features and management of Wilson disease in children: an evaluation of 12 cases.

Aim: Wilson's disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment.

Material And Methods: Twelve children with a diagnosis of Wilson's disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study.

Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome Induced by Levetiracetam in a Pediatric Patient.

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare, life-threatening hypersensitivity drug reaction. Patients present with cutaneous rash, fever, lymphadenopathy, hematologic abnormalities with eosinophilia and atypical lymphocytes, and visceral organ involvement. The prognosis of DRESS syndrome is related to the degree of end-organ damage, and the mortality rate is approximately 10%.

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

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.

Increased Serum Phthalates (MEHP, DEHP) and Bisphenol A Concentrations in Children With Autism Spectrum Disorder: The Role of Endocrine Disruptors in Autism Etiopathogenesis.

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.

Misdiagnosis of gastroesophageal reflux disease as epileptic seizures in children.

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.

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome.

Objectives: The purpose of this study was to characterize patients who were diagnosed with glucose transporter protein 1 deficiency syndrome (Glut1D), and also to assess the efficacy of ketogenic diet (KD) therapy on seizure control, cognitive functions, and other neurological disorders.

Patients And Methods: We studied six unrelated patients with the classical phenotype of Glut1D, focusing on clinical and laboratory features, the KD therapy and outcome over the 25-month follow-up period.

Results: Five patients became seizure-free with the onset of ketosis, and anticonvulsants were discontinued.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Background: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene.

Methods And Results: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome.

Torticollis in children: an alert symptom not to be turned away.

Purpose: The aim of this study is to investigate the spectrum of underlying disease in children with torticollis.

Methods: We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years.

Results: 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.