Hot water epilepsy with alone and spontaneous seizures in childhood.

Objectives: Hot water epilepsy (HWE) is a type of epilepsy that primarily affects children. This study was aimed to evaluate the clinical, electroencephalogram (EEG), neuroimaging findings, and treatment options in children with HWE.

Methods: The medical records of 24 patients who had HWE were evaluated retrospectively.

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.

Background: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease and is caused by mutations in the NF1 gene. The most common clinical features of NF1 are pigmentary abnormalities such as café-au-lait spots and inguinal or axillary freckling, cutaneous and plexiform neurofibromas, hamartomas of the iris, optic gliomas, and bone lesions. The aim of this retrospective study was to define the clinical and molecular characteristics of a pediatric sample of NF1, as well as the mutational spectrum and genotype-phenotype correlation.

A randomized controlled study: Evaluating the efficacy of a mobile application developed for mothers who have children with epilepsy in Turkiye.

Purpose: This study was conducted for the purposes of developing the Mobile Epilepsy Education Package (MEEP) for mothers who have children with epilepsy, and evaluating the efficacy of such a package.

Design And Methods: The research consisted of a randomized, controlled experimental study. DISCERN measuring tool was used to evaluate the content of MEEP.

Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum.

Background: Resistance to antiseizure drugs is an important problem in the treatment of individuals with epilepsy. Identifying the molecular etiology of drug-resistant epilepsy (DRE) is crucial for better management of epilepsy. Here, we explore the utility of whole exome sequencing (WES) in identifying causative gene variants in children with DRE.

Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.

Background: The genetics of hereditary ataxia (HA) are complex and multigenic. The diversity of genes that cause ataxia varies considerably between populations. We aimed to investigate the clinical, neuroimaging, and genetic findings of HA in children from a tertiary center in Turkey.

The factors affecting neurodevelopmental outcomes in HIE.

Background: Hypoxic ischemic encephalopathy (HIE) has different neurological outcomes.

Aim: We wanted to see if there was any developmental delay in neonates with hypoxia ischemic encephalopathy who were given therapeutic hypothermia.

Study Design: Retrospective cohort study.

Lethal encephalitis in a pediatric patient with SARS-CoV-2.

Background: SARS-CoV-2 mostly affects the respiratory system. Some studies have reported neurological disorders associated with SARS-CoV-2. Despite an increase in reported instances, encephalitis caused by COVID-19 infection is still poorly understood.

Novel variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. To date, approximately 80 patients have been reported with BBSOAS.

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy.

The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our patient revealed a short stature, intellectual disability, facial dysmorphism (microcephaly, ptosis, epicanthus, low nasal bridge, protruding ears, long philtrum, and thin lips), and clinodactyly of the fifth finger. The peripheral karyotype was 46, XX, del (18) (p11.

Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study).

Background: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety about fevers and seizures occurring in their children. There are no routine recommendation to detect etiological causes of FS for neurological perspective, further knowledge about the etiological causes of FS in children will support preventive measures and follow-up strategies. The aim of this study is to evaluate the percentage of respiratory viruses in children with FS.

Hemi-meningitis with hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a rare lymphoproliferative disorder. HLH may occur as a complication of Epstein-Barr virus (EBV), particularly in patients with immunodeficiencies. Herein, we describe a 16-year-old girl with neurological complications associated EBV-induced HLH.

Hot Water Epilepsy Successfully Treated With Daily Clobazam.

Hot water epilepsy (HWE) is a rare form of reflex epilepsy precipitated by a bath or shower in hot water. Although the condition is benign and a decreased bath temperature will help, antiepileptic drugs may be needed in some cases. Prophylactic clobazam is currently the first choice treatment option.

Mycoplasma pneumoniae infection with neurologic complications.

Background: Extrapulmonary complications of Mycoplasma pneumoniae (M. pneumoniae) infection include encephalitis, optic neuritis, acute psychosis, stroke, cranial nerve palsies, aseptic meningitis and also it may be implicated in immune mediated neurological diseases such as acute demyelinating encephalomyelitis, Guillain-Barre syndrome and transverse myelitis.

Case Presentation: We present five cases with acute neurological diseases after M.

Clinical and Neuroimaging Findings of Sydenham's Chorea.

Objective: Sydenham's chorea (SC) is thought to be an autoimmune disorder. MRI is generally used to exclude other causes of chorea. There are no typically defined MRI features of SC.

Ptosis during hematologic malignancy in children.

Neurological symptoms such as ptosis may develop due to either chemotherapeutic agents or involvement of the central nervous system (CNS) during hematologic malignancy. It is difficult to make this distinction according to clinical symptoms and magnetic resonance imaging findings. If the neurologic symptoms are increased, it is a warning of CNS involvement.

Co-existence of acute transverse myelitis and Guillain-Barré syndrome associated with Bartonella henselae infection.

Cat scratch disease (CSD) is a benign, self-limiting condition associated with Bartonella henselae. Neurological manifestations are uncommon. Acute transverse myelitis and Guillain-Barré syndrome have been reported rarely with CSD.

Breath holding spells: point prevalence and associated factors among Turkish children.

Background: Breath holding spells (BHS) are known as paroxysmal non-epileptic disorder. There are two subtypes of BHS: cyanotic and the pallid. BHS have been reported to occur in 0.

Akathisia in association with herpes simplex encephalitis relapse and opercular syndrome in children.

We report a 2-year-old boy with herpes simplex virus type 1 encephalitis (HSE) and opercular syndrome who presented with clinical relapse characterized by chorea-like involuntary movements that suggest akathisia. The patient initially presented with multiple focal seizures that cause epilepsia partialis continua, polymerase chain reaction (PCR) for herpes simplex virus type 1 was positive. He developed hypersalivation, speech and swallowing difficulties within 30days.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Purpose: Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.

Method: Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.

Chorioretinitis as a first sign of SSPE.

Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder. Ocular involvement in SSPE has been well known and might be seen in 42 to 50% of the patients. Visual findings are generally seen at stage III with neurological abnormalities.

Nonconvulsive status epilepticus due to drug induced neurotoxicity in chronically ill children.

Nonconvulsive status epilepticus (NCSE) is a specific form of status epilepticus and is defined as epileptic activity on an EEG without seizures and as an alteration in mental status lasting more than 30 min. NCSE may be caused by drugs, cerebrovascular events, metabolic disorders or toxins. Herein, we present four cases of patients with drug-induced NCSE who were chronically ill due to renal failure or childhood leukemia.

ACE gene polymorphism in premature neonates with respiratory distress syndrome.

The purpose of this study was to investigate the relationship between angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism and respiratory distress syndrome (RDS) in premature neonates. The patient group consisted of 101 premature neonates born before 37 weeks of gestation and diagnosed as RDS. The control group consisted of 100 premature neonates born before 37 weeks of gestation, but was not diagnosed as RDS.