Prophylactic Cyproheptadine to Control Paroxysmal Hemicrania Attacks: A Preliminary Investigation.

Background: Paroxysmal hemicrania (PH) is a severe short-lasting headache usually localized around the eye. It might occur in conjunction with ipsilateral autonomic manifestations of trigeminal nerve stimulation. PH responds well to indomethacin treatment; however, considering the adverse effects of indomethacin, its long-term use is a matter of question and investigations about other prophylactic medications are going on, but they are inconclusive.

Visual Perception in Children with a History of Hypoglycemia due to Hyperinsulinism.

Objectives: Hyperinsulinism refers to improper insulin secretion in the presence of low plasma glucose, causing severe and persistent hypoglycemia in infants and children. The brain's occipital lobe, which includes the visual and plays an essential role in visual perception is specifically sensitive to hypoglycemia-induced damage. The present study aims to investigate the visual perception in children suffering from hyperinsulinism and to compare it with the control group.

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

Aim And Objective: Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 males. In the last decades, exome sequencing technology has revolutionized the process of disease-causing gene discovery in XLIDs.

Causes and Risk Factors of Drug-Resistant Epilepsy in Children.

Objectives: Epilepsy, the tendency to have recurrent unprovoked seizures, is the most common chronic neurological disorder worldwide. About 20% to 40% of children with epilepsy suffer from refractory seizures, causing neurological, cognitive, and psychosocial impairments. Identifying the factors contributing to pediatric refractory seizures can help neurologists effectively prevent, diagnose, and treat their patients.

Efficacy of Lacosamide Add-on Therapy on Refractory Focal Epilepsies in Children and Adolescents: An Open-Label Clinical Trial.

Objective: Epilepsy is a chronic neurological disorder that affects 0.5%-1% of children. 30%-40% of patients are resistant to current anti-epileptic drugs.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined.

Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA).

Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.

Objective: This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder.

Methods: In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guani-dinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed.

Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.

Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia before the age of three. Various reports evaluated the relationship between the incidence of INAD and different mutations in the PLA2G6 gene. We described cases of two children with INAD whose diagnoses were challenging due to misleading findings and a mutation in the C.

A Comparative Study on the Efficacy of Coenzyme Q10 and Amitriptyline in the Prophylactic Treatment of Migraine Headaches in Children: A Randomized Controlled Trial.

Background: Migraine, one of the most common headaches in children, has a significant impact on children and their family's quality of life (QoL). There are two approaches for controlling migraine headaches preventative and controlling acute attacks. Several drugs have been used for this purpose, and tricyclic antidepressants were at the top.

The Comparison of Levetiracetam and Piracetam Effectiveness on Breath-Holding Spells in Children: A Randomized Controlled Clinical Trial.

Background: We aimed to compare the effectiveness of Levetiracetam and Piracetam on the severity and frequency of spells in children with severe breath-holding spells (BHS), i.e. bening, paroxysmal, and nonepileptic events that are common in early childhood.

Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.

Objective: This study was conducted to evaluate the validity of performing whole exome sequencing in children with unexplained intellectual disability (ID), developmental delay (DD), and epilepsy.

Methods: We enrolled 61 Iranian children with unexplained DD/ID, and epilepsy with no etiologic diagnosis. 64 % of cases were male and 36 % were female, with a mean age of 6.

Neurodevelopmental Outcomes of Infants with Benign Enlargement of the Subarachnoid Space.

Objective: Benign enlargement of the subarachnoid space (BESS) is the most common cause of macrocephaly in infants. This study aimed to evaluate the neurodevelopmental outcomes in infants with BESS.

Materials & Methods: In this follow-up study, all records of infants diagnosed with BESS in 2012-2016 were assessed.

A Comparative Study on the Efficacy of Levetiracetam and Carbamazepine in the Treatment of Rolandic Seizures in Children: An Open-Label Randomized Controlled Trial.

Objective: This study was performed to investigate whether levetiracetam should be preferred to carbamazepine as a treatment choice for benign childhood epilepsy with centro Temporal spikes (BCECTS), the most common partial epilepsy of childhood.

Methods: This randomized clinical trial study included 92 children with rolandic epilepsy aged 4-12 years referred to the Pediatric Neurology Clinic at Imam Hossein Hospital, Isfahan, Iran, from April 2019 to January 2020. Patients were selected consecutively and randomly assigned to two study groups (levetiracetam and carbamazepine groups).

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.

Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they have an identical pathological variant and/or belong to the same family. Herein, we reported two male siblings with ID in an Iranian family.

Efficacy of Levetiracetam in Treatment of Childhood Stuttering.

Background: Stuttering is a kind of speech disorder that affects about 1% of total population. As the origin of this disorder is not obviously diagnosed yet, various remedies have been practiced and among them different medicines have been studied, but unfortunately no significant effective drugs have been recognized yet. As stuttering imposes a great social and mental costs to the patients and their families, finding an effective medicine will help significantly.

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Background: Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most common genetic causes of mortality in infants. It is characterized by degeneration of anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy.

Genetic Analysis of Gene in Iranian Patients with Rett Syndrome.

Objectives: Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome.

Materials & Methods: To provide further insights into the distribution of mutations in gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017.

Oral Diazepam in Febrile Seizures Following Acellular Pertussis Vaccination.

Background: Febrile seizure is the most common type of seizures among children, which is a terrible and frightening experience for parents who are concerned about its recurrence. The aim of this study was to evaluate the effect of diazepam on preventing the recurrence of febrile seizure following acellular pertussis vaccination.

Materials And Methods: In this clinical trial, 121 children with a history of febrile seizure that required the pertussis vaccination were enrolled and divided into two groups; the first group was treated with oral diazepam for 48 h after vaccine injection and the control group received antipyretics only if fever occurred after the vaccination and used rectal diazepam for controlling seizure if a seizure occurred.

Short-Term Side Effects of Low Dose Valproate Monotherapy in Epileptic Children: A Prospective Study.

Objectives: Considering the common use of valproate among children, we investigated the short-term side-effects of low dose valproate monotherapy in epileptic children.

Materials & Methods: In this prospective study, 209 epileptic children (48.3% male, mean age: 7.

Neurodevelopmental outcomes of the West syndrome in pediatric patients: The first report from the Middle-East.

Background: This study aimed to investigate the clinical characteristics and neurodevelopmental outcomes of children with West syndrome (WS) by using the Bayley-III scale of infant development, as the first report from the Middle-East.

Methods: Between January 2013 and February 2016, we prospectively enrolled 67 consecutive patients with a confirmed diagnosis of WS from Isfahan, Iran. Cognition, language and motor outcomes of the studied subjects were evaluated with the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III).

Risk Factors of Pediatric Arterial Ischemic Stroke; A Regional Survey.

Background: Considering that better understanding of the underlying mechanisms and risk factors of arterial ischemic stroke (AIS) would be helpful for better management of stroke and its outcome in children as well as preventing or reducing the occurrence of its related potential disabilities, the aim of this study was to investigate the most common risk factors and causes of AIS in patients referred to the referral hospitals in Tehran and Isfahan cities of Iran.

Methods: In this study, medical files of all pediatric patients admitted to the Mofid and Imam Hossein children's hospitals with the diagnosis of AIS from 2001 to 2011 and 2011 to 2016, respectively, were evaluated. Identified risk factors of AIS were categorized as arteriopathies, cardiac disorders (CDs), infection, acute head-and-neck disorders, acute systemic conditions, chronic systemic conditions, prothrombotic states, chronic head-and-neck disorders, atherosclerosis-related RFs, and others.

Clinical Features and Outcome of Guillain-Barré Syndrome in Children.

Objective: There are no reports about the clinical presentations and outcome of Guillain-Barré syndrome (GBS) in our region, therefore, we aimed to report some mentioned findings in children diagnosed with GBS in Isfahan, central Iran.

Materials & Methods: In this retrospective study, pediatric diagnosed with GBS referred to Imam Hossein Hospital, the Pediatric Referral Center of Isfahan Province, central Iran were enrolled from 2011-2014. The following data were extracted from the medical files of patients; age, gender, early signs and symptoms of GBS, neurological features, sensory and motor and autonomic involvements, sphincter dysfunction, bulbar muscle involvement, respiratory failure, cranial nerve paralysis, delay time from onset to definite diagnosis and management of GBS and the outcome.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date.

Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.

Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis.

Idiopathic granulomatous mastitis: dilemmas in diagnosis and treatment.

Background: Idiopathic granulomatous mastitis (IGM) is a benign rare inflammatory disease of the breast. Due to its uncommon etiology, diagnosis and treatment is still unknown. Selection of a standard method for diagnosing idiopathic granulomatous mastitis is sophisticated.