Thirteen-year surveillance results of acute flaccid paralysis cases in Southeast Turkey and the effect of refugee movements on surveillance results.

Objective: Acute flaccid paralysis (AFP) is a major neurological problem. Turkey has accepted over 4 million refugees since 2011 due to the wars in neighbouring countries. In the long term, refugees can have adverse effects on the limited resources of health, sanitation, water supply, foodstuff, and shelter services of host countries, precipitating the transmission and spread of enteroviruses causing AFP.

Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review.

There is still no evidence-based guideline and consensus on the treatment Sydenham's Chorea (SC). The first-line medication preference of specialists depends on personal experience and is variable. In this study, we evaluate the treatment results of pediatric patients who were treated with valproic acid (VPA).

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle.

Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort.

Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

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.

Methods: 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.

A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.

Introduction: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glycosylation, involves many enzymes.

The Importance of Neurological Examination for the Indication of Computed Tomography of the Brain in Pediatric Emergency Room.

Objectives: In this study, records of the children who underwent Computed Tomography of the Brain (CTB) were reviewed to increase the awareness of pediatricians to protect patients from radiation, whether CTB was used with right indications or if it was determinative for diagnosis.

Methods: In total, in this study, 342 cases applied to our Pediatric Emergency Polyclinic between January 2005-December 2010 were retrospectively evaluated regarding complaints at admission, neurological examination and CTB results. The sensitivity and specificity of the neurological examination in detecting the CTB pathology was determined.

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.

Background And Objectives: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia.

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In this report, detailed clinical features of a female patient and a new mutation that was not previously identified in the WD repeat-containing protein 45 (WDR45) gene are presented in order to contribute to the information in the literature on the phenotype as well as genotype of Beta-Propeller Protein Associated Neurodegeneration. Whole Exome Sequencing (WES) analysis was done since etiology could not be determined. Our case was admitted to the hospital due to epilepsy, growth retardation and autism.

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In this report, detailed clinical features of a female patient and a new mutation that was not previously identified in the WD repeat-containing protein 45 (WDR45) gene are presented in order to contribute to the information in the literature on the phenotype as well as genotype of Beta-Propeller Protein Associated Neurodegeneration. Whole Exome Sequencing (WES) analysis was done since etiology could not be determined. Our case was admitted to the hospital due to epilepsy, growth retardation and autism.

Cardiac evaluation in children with malnutrition.

Aim: The main purpose of this study was to identify myocardial changes in malnourished children.

Material And Methods: This prospective study included 47 patients with malnutrition and 44 healthy controls. The subjects who had malnutrition were classified according to the method of Gomez and Waterlow.

Early neurological complications in children with classical galactosemia and p.gln188arg mutation.

Background: Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG.

Methods: We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017.

Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.

Several recent studies have reported that toxic metabolites accumulated in the body as a product of inborn errors of metabolism (IEM) are eliminated more rapidly with continuous venovenous hemodiafiltration (CVVHDF) than with peritoneal dialysis (PD). However, there is still uncertainty about the impacts of dialysis modalities on the short-term outcome. Here, it was aimed to investigate the effects of dialysis modalities on the short-term outcome.

A Case of Wernicke Encephalopathy Developing After Ileal Bypass Surgery.

Wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. It is associated with alcohol dependence in adults. Preparatory factors include hyperemesis gravidarum, prolonged diarrhea, prolonged parental nutrition without vitamin support, absorption disorders, anorexia, cancer, and chemotherapy.

Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia.

Aim: Newborns with inborn errors of metabolism can present with hyperammonaemic coma. In this study, we evaluated the effect of peritoneal dialysis on plasma ammonium levels and on the short-term outcome in neonatal patients with urea cycle defects and organic acidaemia.

Methods: Data from infants with hyperammonaemia due to urea cycle defects or organic acidaemia treated with dialysis were collected and retrospectively analyzed.

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Çelik M, Özgün N, Akdeniz O, Fidan M, Tüzün H, İpek MŞ, Emecan M, Eminoğlu FT. Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments. Turk J Pediatr 2018; 60: 540-546.