Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in Gene: Concomitant Gene in One Sibling.

Introduction: Hereditary spastic paraplegia () is a genetically and clinically heterogeneous group of rare neurodegenerative disorders. SPG45 is the AR inherited type of complicated SPG, which is due to a mutation in the gene.

Case Presentation: Two sisters, aged 8 and 4, exhibited delayed motor development since early childhood.

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey.

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.

Treatment Dilemma in Juvenile Huntington's Patient Presenting with Psychiatric Symptoms.

The Westphal variant of Huntington's disease (HD) is a progressive neurodegenerative disease characterized by a rigid-hypokinetic syndrome rather than choreiform movements. This variant is a distinct clinical entity of HD and is often associated with a juvenile onset of the disease. We present the case of a 13-year-old patient diagnosed with the Westphal variant with an onset at approximately 7 years of age and primarily exhibited developmental delay and psychiatric symptoms.

A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome.

Allan-Herndon-Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers.

Materials And Methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted).

Developmental evaluation in children experiencing febrile convulsions.

Background: The objective of this study was to determine the effect of febrile convulsion (FC) on neuromotor development.

Methods: Data of 325 patients, who were followed up at our outpatient clinic and diagnosed with FC between January 2012 and December 2018, were retrospectively evaluated. Of these patients, 203 underwent the Denver Developmental Screening Test II (DDST II) and were included in the study as the patient group and 100 healthy children as the control group.

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.

Long-term cognitive outcomes of prematurely born infants: A longitudinal follow-up of Denver II, Bayley III and WISC-IV Tests.

Background: Prematurity constitutes a risk factor for developmental delay in infancy and childhood. This study aims to: (i) determine long-term cognitive outcomes in prematurely delivered children and compare them with term-delivered children using the WISC-IV and Stroop tests; (ii) examine the relation between Denver II, Bayley III and WISC-IV, Stroop tests.

Methods: The study group consisted of children born prematurely who had been tested with Denver II and Bayley III in their first 2 years, and had been evaluated with WISC-IV and Stroop tests under follow up, 6-10 years later.

Identification of a Novel Mutation in Gene with Global Developmental Delay and Refractory Epilepsy.

We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote novel mutation in gene.

Neurodevelopmental risk evaluation of premature closure of the anterior fontanelle.

Purpose: To evaluate neurological development of completely healthy children with anterior fontanelle premature closure via Denver Developmental Screening Test II and to compare the results with control group.

Method And Results: The records of 140 patients applied to Mersin University Pediatric Neurology Outpatient Clinic between 2011 and 2019 with the complaint of premature closure of the anterior fontanelle were retrospectively reviewed. Patients with microcephaly, craniosynostosis, infection, sequelae of hypoxia-ischemia, metabolic disorders, intracranial hemorrhage, epilepsy, endocrine problems, and dysmorphic features were excluded from the study.

Posterior reversible encephalopathy syndrome (PRES) due to acute hypertension in children: 12 years single-center experience.

The objective of the study is to evaluate the clinical and neuroradiological findings, the risk factors for recurrence and the prognosis in patients with posterior reversible encephalopathy syndrome developed secondary to acute hypertension in children. The study was conducted between 2008 and 2019 at Mersin University Faculty of Medicine. A total of 49 episodes were evaluated retrospectively in 38 patients with PRES secondary to acute hypertension.

A rare concurrence: Antibodies against Myelin Oligodendrocyte Glycoprotein and N-methyl-d-aspartate receptor in a child.

Background: Myelin Oligodendrocyte Glycoprotein antibodies (MOG) may be used as a biomarker for diagnosis of many demyelinating diseases. Especially, patients of acute disseminated encephalomyelitis (ADEM), multiple sclerosis (MS), aquaporin-4 (AQP4) seronegative neuromyelitis optica spectrum disorder (NMOSD), monophasic or recurrent optic neuritis (ON), transverse myelitis and N-methyl-d-aspartate (NMDA) receptor encephalitis (NMDARe) can overlap with Myelin Oligodendrocyte Glycoprotein antibodies. We present a child with autoimmune encephalitis in whom antibodies against Myelin Oligodendrocyte Glycoprotein (MOG) and N-methyl-d-aspartate receptor (NMDAR) were simultaneously detected.

Axial Mesodermal Dysplasia Complex with a Unique Abnormal Course of Vestibulocochlear Nerve.

Axial mesodermal dysplasia complex (AMDC) is a combination of multiple congenital malformations arising due to the mesodermal cell migration, neural tube fusion, and rhombencephalon segmentation. Here, we present the imaging findings of a 15-year-old boy with AMDC who has bilateral inner ear malformations associated with a vestibulocochlear nerve extending to Meckel cave, cystic lesion in prepontine cisterna, cervical vertebral segmentation anomalies, and maxillar bone anomalies.

Does Levetiracetam Administration Prevent Cardiac Damage in Adulthood Rats Following Neonatal Hypoxia/Ischemia-Induced Brain Injury?

Cardiovascular abnormalities are widespread when a newborn is exposed to a hypoxic-ischemic injury in the neonatal period. Although the neuroprotective effects of levetiracetam (LEV) have been reported after hypoxia, the cardioprotective effects of LEV have not been documented. Therefore, we aimed to investigate whether levetiracetam (LEV) has a protective effect on cardiac-contractility and ultrastructure of heart muscle in rats exposed to hypoxia-ischemia (HI) during the neonatal period.

A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia.

A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy.

Retrospective analysis of children with myelin oligodendrocyte glycoprotein antibody-related disorders.

Background: Knowledge has been expanding on myelin oligodendrocyte glycoprotein (MOG) antibody-associated central nervous system disorders. We delineate the clinical and paraclinical findings and outcome of our pediatric patients with MOG antibody seropositive disease.

Methods: We retrospectively analyzed the clinical presentation, cerebrospinal fluid findings, magnetic resonance imaging (MRI) studies, course and outcome of children seropositive for anti-MOG IgG.

Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature.

Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital.

Fibroblast growth factor 2 improves cognitive function in neonatal rats with hypoxic ischaemic brain injury.

Objective: To determine the effect of fibroblast growth factor 2 on cognitive function in neonatal rats with hypoxic-ischaemic brain injury.

Methods: The randomised controlled study was conducted from January to June 2011 at Mersin University, School of Medicine, Experimental Animals Research Laboratory and Physiology Behaviour Laboratory, Mersin, Turkey. It included 7-d-old male rats that were randomised into four groups: fibroblast growth factor 2-20, fibroblast growth factor 2-40, control and sham.

Pediatric Lyme Neuroborreliosis: Different clinical presentations of the same agent; Single center experience.

Objectives: Lyme disease is a vector-associated infectious disease, caused by the agent, spirochete Borrelia burgdorferi. Neurologic findings are observed in approximately 12% of the cases and termed Lyme neuroborreliosis (LNB). Lyme neuroborreliosis may manifest with different clinical neurologic manifestations.

Epstein-Barr virus encephalitis with substantia nigra involvement.

Infectious mononucleosis due to Epstein-Barr virus (EBV) is a usually benign systemic viral illness common in children. Many studies described nervous system manifestations of infectious mononucleosis with a wide spectrum of neurologic deficits. Neurologic complications of EBV are seen in both acute and reactivate infection.

Cerebral salt wasting in pediatric critical care; not just a neurosurgical disorder anymore.

Objective: Cerebral salt-wasting syndrome (CSWS) is a hypovolemic hyponatremia caused by natriuresis and diuresis, of which the exact pathogenesis is unknown. Although CSWS has been more commonly described to be associated with neurosurgical disorders, increasing numbers of patients are diagnosed and new etiological factors are being identified as the awareness of it increases.

Methods: The files of the patients who had been hospitalized and treated with the diagnosis of CSWS at the pediatric critical care unit during the last three years were retrospectively reviewed.

Cerebral salt wasting in tuberculous meningitis: Two cases and review of the literature. Case Report.

Cerebral salt wasting syndrome (CSWS) is characterized by severe natriuresis and volume depletion in the presence of cerebral pathology. In literature, there are few reports about tuberculous meningitis and cerebral CSWS. In this article, we report two tuberculous meningitis cases with CSWS and present a review of the literature on this topic.

Treatment of Lyme neuroborreliosis with plasmapheresis.

Lyme disease is a rare tick-borne multisystemic infection caused by Borrelia burgdorferi. Different neurological conditions were reported in the disease. In this article, we present a 15-year-old patient hospitalized with ataxia who was diagnosed with Lyme neuroborreliosis.