Effectiveness and Safety of Epilepsy Surgery for Pediatric Patients with Intractable Epilepsy: A Clinical Retrospective Study from a Single-Center Experience.

Introduction: Pediatric epilepsy surgery is an effective treatment modality for patients with drug-resistant epilepsy (DRE). Early pediatric surgery yields favorable results for DRE in terms of seizure control and neurophysiological outcome. In this study, pediatric patients were categorized based on their age (above 3 years old and below 3 years old) to demonstrate the effectiveness and safety of surgical procedures.

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.

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Introduction: Previous reports described a pattern of hypoglycemia-induced damage predominantly affecting the parieto-occipital regions. The long-term neurological sequelae of severe neonatal hypoglycemic encephalopathy include developmental delay, poor head growth, learning or behavioral difficulties, visual impairment, and epilepsy. This study reports neurodevelopmental outcome of children with neonatal hypoglycemia-associated parieto-occipital brain injury who were evaluated in our pediatric neurology outpatient clinic for different neurological complaints.

Proteomic Analysis of m.8296A>G Variation in the Mitochondrial Gene.

Variation in the mitochondrial gene at position 8296 was previously found to be associated with maternally inherited diabetes mellitus and deafness, hypertrophic cardiomyopathy, myoclonic epilepsy with ragged-red fibers and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The pathogenicity of the m.8296A>G variation is unclear.

Are Interictal Discharges Associated with Neuronal Cell Loss in Electrical Status Epilepticus in Sleep?

Objective: Neuron-specific enolase is an established biomarker of neuronal damage. This study aimed to reveal the relationship between serum neuron-specific enolase level and continuous interictal discharges in a group of encephalopathy with electrical status epilepticus in sleep patients for the first time and determine whether there is a neuronal cell loss or damage.

Materials And Methods: We analyzed serum neuron-specific enolase levels in patients with an electrical status epilepticus in sleep pattern on their electroencephalographs with age- and sex-matched control subjects.

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.

Introduction: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. Here we reported our experience in children with CMS.

Methods: We retrospectively collected the data of 18 patients with CMS who were examined in our outpatient clinic between January 2021 and January 2022.

as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.

Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.

Relationship Between Lactate Levels and Length of Hospital Stay in Infants with Lower Respiratory Tract Infection.

Increased lactate concentrations are directly related to the severity of shock and mortality rates. There are limited data regarding the prognostic value of lactate among lower respiratory tract infections. We aimed to investigate the impact of lactate levels on admission on the clinical outcomes of children with lower respiratory tract infections.

An overview of smell and taste problems in paediatric COVID-19 patients.

At the start of the COVID-19 pandemic in March 2020, fever and respiratory symptoms were the indications for virus testing in our hospital. As data have continued to accumulate worldwide, gastrointestinal, neurological, cardiovascular, cutaneous and ocular symptoms have been reported for confirmed COVID-19 cases. There have been few case reports on problems with taste and smell in paediatric COVID-19.

Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl.

Sakarya Güneş A, Maraş Genç H, Uyur Yalçın E, Yılmaz V, Saruhan Direskeneli G, Kara B. Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl.

Long-term clinical and radiologic follow-up of Schilder's disease.

Background: Schilder's disease is a rare, subacute, or chronic demyelinating disorder that mainly affects children and generally shows a monophasic course.

Case: Here, we present three boys diagnosed with Schilder's disease, age at onset 10-14 years, and followed up for 4-8 years. All of them presented with headache, two with encephalopathy and vomiting, and one with diplopia and vertigo.

Global aphasia without hemiparesis may be caused by blunt head trauma: An adolescent boy with transient aphasia.

Global aphasia without hemiparesis is a rare condition often associated with embolic stroke. Posttraumatic causes have not been reported, in the literature, to our knowledge. We report a 15-year old boy with transient global aphasia without hemiparesis due to blunt head trauma.

Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy.

The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis.

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.

Aicardi-Goutières syndrome (AGS) is a rare, autosomal recessively inherited, immune-mediated neurodevelopmental disorder. The syndrome causes infantile-onset progressive encephalopathy characterized by the neuroradiologic features of basal ganglia and periventricular white matter calcification, leucodystrophy and cerebral atrophy. Lymphocytosis and elevated levels of interferon alpha (IFN-alpha) in the cerebrospinal fluid are supplementary findings of AGS.

Clinical outcomes in children with herpes simplex encephalitis receiving steroid therapy.

Background: Herpes simplex virus encephalitis (HSE) is a significant cause of morbidity and mortality. Neurologic sequelae are common even after early initiation of acyclovir treatment. The host immune response during HSE can also lead to brain damage.

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.

The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported up to now. PCH2 is the most common type, generally caused by homozygous mutations in the TSEN54 gene and characterized by cerebellar hypoplasia that affects the hemispheres more severely than the vermis, progressive cerebral atrophy, microcephaly, dyskinesia, seizures and death in early childhood.

The efficacy of nebulized salbutamol, hypertonic saline and salbutamol/hypertonic saline combination in moderate bronchiolitis.

Background: The mainstay of treatment in bronchiolitis includes oxygenation, aspiration of secretions from the respiratory tract and maintenance of hydration. The first choice medical agent in clinical practice is nebulized bronchodilators, although their place in treatment is controversial.

Objectives: We investigated the therapeutic benefit of nebulized hypertonic (3%) saline (HS), by comparing four different nebulized regimens in the treatment of bronchiolitis in the emergency department.