Status epilepticus and coma leading to death in a boy caused by Medium-chainacyl-coA dehydrogenase deficiency.

Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid β- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no metabolic screening program except for phenylketonuria (PKU) and hypothyroidism in Iran, and such screening is exclusively implemented in the case of babies with unprovoked seizures and hypoglycemia and previous unexplained sibling deaths.

Evaluation of the Efficacy of LevetiracetamPlus Iron in Comparison With Iron Alone in Controlling and Reducing the Frequency of Breath-Holding Spells in Children Aged 6 Months to 5 Years.

Objective: A breath-holdingspell (BHS) is defined as an apnea attack following an initial stressful event like anger, sadness, and fear, a painful event like falling or head trauma or any stressful psychology event. This study was designed to assessthe comparative efficacy of levetiracetam plus iron and iron alone in reducingthe BHS frequency in children aged 6 months to 5 years.

Materials &method: This study was designed asa double-blinded randomized clinical trial.

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.

Objective: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.

Materials & Methods: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed.

Prenatal stress potentiates febrile seizure and leads to long-lasting increase in cortisol blood levels in children under 2years old.

Neurological disorders can be exacerbated in an offspring that is exposed to stress prenatally. This study is aimed to investigate the severity of febrile seizures (FS) in the offspring under 2years old that were prenatally stressed. In this study, 158 children below 2years old with FS were selected.

Omega 3 in Childhood Migraines: a Double Blind Randomized Clinical Trial.

Objective: The effect of using omega-3 to prevent migraine attacks has been raised in recent studies. The majority of these studies have been conducted in adults. Conversely, other studies have yet to confirm the effect of omega-3.

Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

Objectives: Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran.

Materials And Methods: A total of 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method.

Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.

Introduction: This study was carried out to determine the frequency of the VNTR-polymorphisms at the PAH gene in the Iranian Azeri Turkish patients with phenylketonuria (PKU) and normal controls.

Material And Methods: The VNTR-polymorphisms were determined by PCR in 43 PKU patients as well as 43 controls.

Outcomes: The frequencies of VNTR-alleles were 13(15.

Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.

Background: The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population.

Methods: In this study, 200 alleles from general population were studied by PCR.

Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

Introduction: We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients.

Material And Methods: VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR.

Outcomes: Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3).

The ketogenic and atkins diets effect on intractable epilepsy: a comparison.

Objective: Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that are available for treatment are limited and new treatments such as diets must be tried. Now there are some diets available for treating patients with intractable epilepsy. The oldest diet is the classic ketogenic diet and one of the newest diets is the modified Atkins diet.

Use of complementary and alternative medicine for epileptic children in tehran: a cross-sectional study (2009-2011).

Objective: Although the use of Complementary and Alternative Medicine (CAM) has been evaluated globally, there are few studies in our country on this subject. The purpose of this study was to determine the prevalence, pattern of use, parental sources of information, and benefits of CAM in epileptic children in Tehran.

Materials & Methods: One hundred thirty-three parents or relatives of epileptic children who were referred to outpatient clinics or admitted in neurologic ward of four major hospitals in Tehran, were interviewed by our researcher based on a structured questionnaire; from 2009 to 2010.

Prophylaxis of childhood migraine: topiramate versus propranolol.

Objective: Headache is a common disabling neurological disorder and migraine comprises more than half the causes of recurrent headaches in children. Despite extended prevalence of this type of headache there is lack of evidence about best drug treatment for migraine. So we aimed to compare the therapeutic effects of these drugs on childhood migraine.