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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. In this paper, we report a case of a seven-year-old boy who presented with afebrile serial seizures leading to coma and death. IN this regard, metabolic screening tests were used to determine the exact cause of encephalopathy and the final diagnosis.

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. The diagnosis was based on observation, findings of EEG and history of the patient, besides evaluation of patient milestones. The result of metabolic screening with Tandem mass spectrometry was evaluated using SPSS (ver.18.0) Statistical software. Results Totally, 187 children with seizure, regression and/or developmental delay were evaluated by metabolic screening with tandem mass spectrometry method. The results of laboratory examination had no relationship between positive results of metabolic screening and the mentioned disease. The relations between positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful. Conclusion Positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.

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. The information obtained comprised the demographic data of patients and their parents, frequency and morphology of convulsions, the type and sources of CAM and finally, the benefits and adverse effects of this practice. Results Forty-four percent of the respondents had used CAM methods either alone or in combination with other methods. The most frequently used CAM was written prayers followed by oral herbs and special diets. CAM was mainly introduced to them by relatives. Only 16.7% of these parents had discussed this matter with their children’s physicians. No efficacy to control seizure was observed for most of these methods. Conclusion This study showed that use of CAM in our study group is relatively common and may have a potentially hazardous role in the treatment process. So, it is necessary for physicians to have enough information about CAM practice in their patients.

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. Materials & Methods In the current study, a randomized clinical trial consisting of 78 patients according to 2004 International Headache Association criteria were randomly assigned to two groups that matched by age and sex. One of these two groups was treated with Topiramate, while the other was given Propranolol. After one and four months, the efficiency of these treatments was measured in terms of frequency, severity and duration of migraine attacks. Results Results obtained from the data collected showed that of these 78 studied patients, 38 patients received Topiramate treatment (group A) and the rest (40 patients; group B) was treated with Propranolol. The average age of group A was 8.5± 2.9 years and that of group B was 8.3 ± 2.8 years. No significant difference was observed between these two groups in terms of reduction in frequency, severity and duration of migraine attacks. Conclusion Results showed that both treatments had the same efficiency in healing migraine headaches and there was no significant difference between their treating results. However, further studies are needed to examine medical effects of these two medicines.

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.The VNTR-polymorphisms were determined by PCR in 43 PKU patients as well as 43 controls.The frequencies of VNTR-alleles were 13(15.1%), 3(3.49%), 64(74.4%), 5(5.81%), and 1(1.16%) in the patients and 43(50%), 0(0%), 42(48.8%), 0(0%), and 1(1.16%) in the controls regarding 3, 7, 8, 9, and 11 repeat copies, respectively. The VNTR alleles with 12 and 13 repeats were not found in our samples. The frequencies of VNTR-genotypes were 25(58.1%), 1(2.33%), 1(2.33%), 10(23.3%), 2(4.65%), 2(4.65%), 1(2.33%), 1(2.33%), and 0(0%) in the patients and 13(30.2%), 13(30.2%), 0(0%), 16(37.2%), 0(0%), 0(0%), 0(0%), 0(0%) and 1(2.33%) in the controls regarding VNTR8/VNTR8, VNTR3/VNTR3, VNTR3/VNTR9, VNTR8/VNTR3, VNTR8/VNTR9, VNTR7/VNTR9, VNTR7/ VNTR8, VNTR8/VNTR11, and VNTR3/VNTR11 genotypes, respectively. The comparisons of VNTRpolymorphisms imply that there are statistically significant differences between the patients and controls regarding VNTR3, VNTR8, and VNTR9 alleles as well as VNTR8/VNTR8 and VNTR3/VNTR3 genotypes (all P-Value0.05). The frequency of "risk-associated genotype of VNTR8/VNTR8" was significantly higher in the cases.It is concluded that this position is heterozygous and there were statistically significant differences between patients and controls concerning the VNTR8/VNTR8 genotype. We found higher frequencies of disease-associated genotype in our samples than controls. This report is the first in its own type in the west Azerbaijani population. Further studies require assessing how this genotype predicts adverse outcomes in tested population.