Hypomyelination and Congenital Cataract: Three Siblings Presentation.

Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy.

Sydenham Chorea: Putaminal Enlargement.

Background: Our aim in this study was to evaluate the efficacy of magnetic resonance imaging (MRI) studies in the detection of brain regions effected by Sydenham chorea and to determine whether they provided data regarding the pathogenesis of Sydenham chorea. To this end, we assessed basal ganglia structures in Sydenham chorea patients and control group by quantitative MRI volumetric analysis.

Methods: Patients with a recent onset of chorea and control subjects matched for age and gender were included in the study.

Subcortical gray matter changes in pediatric patients with new-onset juvenile myoclonic epilepsy.

Objective: The objective of the study was to identify the relationship between subcortical gray matter (GM) volumes and juvenile myoclonic epilepsy (JME).

Methods: We analyzed the brain magnetic resonance imaging (MRI) scans that were performed during the time of the diagnosis of epilepsy by using voxel-based morphometry (VBM) method. The volumetric three-dimensional sequence was used for structural investigation.

Ictal pouting ('Chapeau de gendarme') in three pediatric cases with cortical dysplasia.

Ictal pouting (Chapeau de gendarme sign) can be described as an inverted smile. It consists of a turned down mouth with the contraction of the chin, wrinkling of the lips and symmetrical lowering of the labial commissures. This shape resembles the gendarme's hat during Napoléon I's time.

Risk factors for recurrence after drug withdrawal in childhood epilepsy.

Background: Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal of AEDs and the risk factors related with recurrence.

Reduced thalamic volume is strongly associated with electrical status epilepticus in sleep.

To identify the relationship between thalamic volume and electrical status epilepticus in sleep (ESES). We analyzed subcortical gray matter volumes in patients with an ESES pattern on their electroencephalographs. All magnetic resonance imaging scans were considered within normal limits.

Cortical thinning in benign epilepsy with centrotemporal spikes (BECTS) with or without attention-deficit/hyperactivity (ADHD).

The aim of this study is to evaluate the abnormal cortical structures associated with newly diagnosed benign epilepsy with centrotemporal spikes (BECTS) patients and assessed the effects of comorbid attention-deficit/hyperactivity (ADHD) on these abnormalities. Newly diagnosed BECTS patients (n = 33, 23 males) and age-matched healthy controls (n = 48) were evaluated by surface and volumetric MRI. CAT12 toolbox (HYPERLINK "http://www.

Identification of a New Mutation Underlying Regressive Episodic Ataxia Type I.

Episodic ataxia type 1 (EA1), a -like K, is a consequence of genetic anomalies in the gene that lead to dysfunctions in the voltage-gated K channel Kv1. 1. Generally, mutations are inherited in an autosomal dominant manner.

Risk factors and motor outcome of paediatric stroke patients.

Background: Childhood stroke causes significant morbidity and mortality. In this study, we aimed to define the presenting findings, causes, risk factors and motor outcomes of our patients.

Methods: We retrospectively analysed patients aged from 1 month to 18 years who were diagnosed as having the first onset of stroke between January 2006 and December 2015.

Guillain-Barré syndrome in children: subtypes and outcome.

Objective: This study reviews the clinical features, subtypes, and outcomes of childhood Guillain-Barré syndrome (GBS).

Methods: Fifty-four children who attended a tertiary care training and research hospital in Turkey were enrolled in the study.

Results: The mean age was 6.

Susac's Syndrome (Retinocochleocerebral Vasculopathy): Follow-up of a Pediatric Patient.

Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years.

Childhood peripheral facial palsy.

Objective: The objectives of this study were to evaluate the demographic and clinical characteristics, causes, treatment patterns, outcome, and recurrence of childhood peripheral facial palsy.

Methods: We performed a retrospective study of 144 peripheral facial palsy patients, under 18 years old in a tertiary care pediatric hospital. Medical charts were reviewed to analyze the age, gender, side of facial nerve paralysis, family history, cause, grading by the House-Brackmann Facial Nerve Grading Scale (HBS), results of diagnostic tests, therapies, outcomes, and recurrence.

Brain magnetic resonance imaging findings in children with headache.

Introduction: The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache.

Population And Methods: Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014.

Results: A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache.

Predictors of recurrence in Sydenham's chorea: Clinical observation from a single center.

Objective: Sydenham's chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite being known as a benign, self-limiting condition, recurrences and persistence of symptoms can be seen. In this study, we aimed to evaluate retrospectively the clinical and laboratory features of patients with Sydenham's chorea and the rate and the course of recurrences, and to assess the risk of recurrences.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis.

Seizures in a Pediatric Intensive Care Unit: A Prospective Study.

Background: The aim of the research is to determine the etiology and clinical features of seizures in critically ill children admitted to a pediatric intensive care unit (PICU).

Methods: A total of 203 children were admitted from June 2013 to November 2013; 45 patients were eligible. Age ranged from 2 months to 19 years.

Leptin and ghrelin levels in children before and after adenoidectomy or adenotonsillectomy.

Background And Aim: Accelerated weight gain after (adeno)tonsillectomy has been reported in a number of studies. Whether (adeno)tonsillectomy is also a risk factor for development of overweight is unknown. We investigated serum leptin and plasma ghrelin levels before and 1 year after (adeno)tonsillectomy operation in children.