Showing papers in "Iranian journal of child neurology in 2017"

A Psychometric Study of the Bayley Scales of Infant and Toddler Development in Persian Language Children.

Abstract: Objective Bayley Scales of infant & toddler development is a well-known diagnostic developmental assessment tool for children aged 1-42 months. Our aim was investigating the validity & reliability of this scale in Persian speaking children. Materials & methods The method was descriptive-analytic. Translation- back translation and cultural adaptation was done. Content & face validity of translated scale was determined by experts' opinions. Overall, 403 children aged 1 to 42 months were recruited from health centers of Tehran, during years of 2013-2014 for developmental assessment in cognitive, communicative (receptive & expressive) and motor (fine & gross) domains. Reliability of scale was calculated through three methods; internal consistency using Cronbach's alpha coefficient, test-retest and interrater methods. Construct validity was calculated using factor analysis and comparison of the mean scores methods. Results Cultural and linguistic changes were made in items of all domains especially on communication subscale. Content and face validity of the test were approved by experts' opinions. Cronbach's alpha coefficient was above 0.74 in all domains. Pearson correlation coefficient in various domains, were ≥ 0.982 in test retest method, and ≥0.993 in inter-rater method. Construct validity of the test was approved by factor analysis. Moreover, the mean scores for the different age groups were compared and statistically significant differences were observed between mean scores of different age groups, that confirms validity of the test. Conclusion The Bayley Scales of Infant and Toddler Development is a valid and reliable tool for child developmental assessment in Persian language children.

Participation of Iranian Cerebral Palsy Children in Life Areas: A Systematic Review Article.

Abstract: Objective Cerebral palsy (CP) is the most common cause of chronic disability that restricts participation in areas of occupations for children. The main aim of rehabilitation is enhancement of their clients for participation in occupations. The aim of this study was to overview of the factors influencing the participations of children with CP in Iran. Materials & methods A systematic, evidence-based process (Duffy 2005) was used. For data gathering electronic databases including Google scholar and Iranian and foreigner famous journals in the fields of pediatrics, were used. The main key words for search were Activity of Daily Living (ADL), Instrumental Activity of Daily Living (IADL), play, leisure, work, rest/sleep, social participation, and education. All the papers of this study were about the factors influencing the participation of Iranian CP children during 2000-2016. Totally, 156 articles were found eligible as for Iranian CP children study, of which 100 articles were discarded. Because of repetitive and duplicability of some articles, 17 articles were removed as well. Results The most studies about Iranian CP children participations in life areas were in the ADL area of participation (N=12), and the lowest articles were in the area in the field of: Work (N=2), play (N=2), and sleep/rest (N=2). Most of the occupational therapists do not focus on the all life areas. Conclusion In Iran, many researchers do not pay attention to the participation of CP children. Many articles just paid attention to the sensory, motor or cognitive components of their clients.

Association of 25-hydroxyvitamin d deficiency in pediatric epileptic patients

Abstract: Objective Epilepsy is a chronic neurological disorder requiring long-term therapy using antiepileptic medications. Reports have incriminated long-term antiepileptic drugs use in deficiency of vitamin D and bone diseases in all age groups. We aimed to investigate the association between serum 25-hydroxyvitamin D levels and pediatric epilepsy in Indian patients. Materials & methods We prospectively recruited 100 pediatric epilepsy patients, on monotherapy for minimum one-year duration, and 50 age and sex matched controls. This study was carried out at Yashoda Hospital, India from 2011-2014. All cases and controls underwent tests for serum 25-hydroxyvitamin D, alkaline phosphatase, serum calcium and phosphorus levels. Results Patients with 25-hydroxyvitamin D deficiency were significantly higher among cases (45%) than controls (24%). Mean alkaline phosphatase was significantly higher in cases and mean serum calcium was significantly lower (8.3±1.5) in cases. Amongst antiepileptic drugs, carbamazepine and sodium valproate were significantly associated with 25-hydroxyvitamin D deficiency. Risk of vitamin D deficiency was highest with sodium valproate usage (odds:4.0;95%CI 1.4-11.6) followed by carbamazepine use (odds: 2.7; 95%CI 1.0-6.8). After adjustment using multiple logistic regression, antiepileptic drugs showed independent association with 25-hydroxyvitamin D deficiency (odds:2.2;95%CI 0.9-4.5). Conclusion 25-hydroxyvitamin D deficiency was significantly associated with use of carbamazepine and sodium valproate in pediatric epilepsy.

Drug-Induced Apnea in Children Admitted to Loghman Hakim Hospital, Tehran, Iran.

Abstract: How to Cite This Article: Gholami N,Alwasabi F, Farnaghi F. Drug-Induced Apnea in Children Admitted to Loghman Hakim Hospital, Tehran, Iran. Iran J Child Neurol. Summer 2017; 11(3):15-18.AbstractObjectiveEnvironmental hazards, including poisons, can cause irreparable effects and even be fatal for children. Poisoning in children is common and serious, but often is preventable and treatable. This study aimed to evaluate the prevalence of drugs and chemical toxicity leading to apnea. In addition, we detected type of drug that induced apnea among children.Materials & MethodsIn a retrospective cross-sectional study from Apr 2012 to Apr 2013, sampled data of all hospitalized drug-induced apnea children were collected through hospital records.ResultsThe most common cause of drug toxicity was methadone syrup (74%). The mortality rate was 3.1%; all of them due to methadone poisoning.ConclusionThere was a high prevalence of apnea and poisoning of methadone in children.Methadone poisoning should be considered in apnea. References1. Sheikh NA, Damodar G. Spectrum of Accidental Paediatric Poisoning at a Tertiary Care Centre in South India. Medico-Legal Update 2015;15(1):93-7.2. Vasanthan M, James S, Shuba S, Abhinayaa J, Sivaprakasam E. Clinical profile and outcome of poisoning in children admitted to a tertiary referral center in South India. Indian J Child Health 2015;2(4):1-5.3. Jepsen F, Ryan M. Poisoning in children. Current Paediatr 15(7):563-8.4. Sharif MR, Nouri S. Clinical Signs and Symptoms and Laboratory Findings of Methadone Poisoning in Children. Iran J Pediatr 2015;25(1):e176.5. Rudd RA, Aleshire N, Zibbell JE, Gladden RM. Increases in Drug and Opioid Overdose Deaths--United States, 2000-2014. MMWR Morbidity and Mortality Weekly Report 2016;64(50-51):1378-82.6. Hein H, Puschel K, Schaper A, Iwersen-Bergmann S. [Accidental ingestion of methadone by children and suggestions for better prevention]. Archiv fur Kriminologie 2016;237(1-2):38-46.7. Boutroy MJ. Drug-induced apnea. Biol Neonate 1994;65(3-4):252-7.8. Farnaghi F, Hassanian-Moghaddam H, Faghihi Langroodi T. Fatal Poisoning and its Related Factors among Children Admitted in Loghman Hospital, 1995 -2004. Pajoohandeh J 2009;13(6):529-35.9. Fariba Farnaghi, Narjes Jafari, Fatemeh-Fereshteh Mehregan. Methadone Poisoning among ChildrenReferred to Loghman-Hakim Hospital in 2009. Pajoohandeh J 2012;16(6):299-303.10. Saleem A, Ejaz MS, Arif F, Hanifa A, Habib MI. Factors leading to acute accidental poisoning in children. Quarterly Medical Channel 2015.11. Farnaghi F, Pournasir Z, Tehranchi S. Opioid Poisoning in Children: A Report of 90 Cases. J Pediatr Nephrol 2015;3(2):62-6.

Socioeconomic Status Index to Interpret Inequalities in Child Development.

Abstract: OBJECTIVE There have been contradictory findings on the relationship between Socioeconomic Status (SES) and child development although SES is associated with child development outcomes. The present study intended to define the relationship between SES and child development in Tehran kindergartens, Iran. MATERIALS & METHODS This cross-sectional survey studied 1036 children aged 36-60 month, in different kindergartens in Tehran City, Iran, in 2014-2015. The principal factor analysis (PFA) model was employed to construct SES indices. The constructed SES variable was employed as an independent variable in logistic regression model to evaluate its role in developmental delay as a dependent variable. RESULTS The relationship between SES and developmental delay was significant at P=0.003. SES proved to have a significant (P<0.05) impact on developmental delay, both as an independent variable and after controlling risk factors. CONCLUSION There should be more emphasis on developmental monitoring and appropriate intervention programs for children to give them higher chance of having a more productive life.

Inter and Intra Rater Reliability of the 10 Meter Walk Test in the Community Dweller Adults with Spastic Cerebral Palsy.

Abstract: OBJECTIVE We aimed to investigation the intra-rater and inter-raters reliability of the 10 meter walk test (10 MWT) in adults with spastic cerebral palsy (CP). MATERIALS & METHODS Thirty ambulatory adults with spastic CP in the summer of 2014 participated (19 men, 11 women; mean age 28 ± 7 yr, range 18- 46 yr). Individuals were non-randomly selected by convenient sampling from the Ra'ad Rehabilitation Goodwill Complex in Tehran, Iran. They had GMFCS levels below IV (I, II, and III). Retest interval for inter-raters study lasted a week. During the tests, participants walked with their maximum speed. Intraclass correlation coefficients (ICC) estimated reliability. RESULTS The 10 MWT ICC for intra-rater was 0.98 (95% confidence interval (CI) 0.96-0.99) for participants, and >0.89 in GMFCS subgroups (95% confidence interval (CI) lower bound>0.67). The 10 MWT inter-raters' ICC was 0.998 (95% confidence interval (CI) 0/996-0/999), and >0.993 in GMFCS subgroups (95% confidence interval (CI) lower bound>0.977). Standard error of the measurement (SEM) values for both studies was small (0.02< SEM< 0.07). CONCLUSION Excellent intra-rater and inter-raters reliability of the 10 MWT in adults with CP, especially in the moderate motor impairments (GMFCS level III), indicates that this tool can be used in clinics to assess the results of interventions.

The Impact of Dynamic Seating on Classroom Behavior of Students with Autism Spectrum Disorder.

Abstract: Objective Children with autism have sitting and on-task behavior problems in class. In this study, the effect of three alternative classroom-seating devices such as regular classroom chairs, therapy balls, and air cushions were examined on students' classroom behavior. Materials & methods 15 students with autism participated in this A1-B-A2-C multiple treatments study from Mashhad's Tabasom School, Mashhad, Iran in 2014. Students' behaviors were video recorded in three phases: sitting on their common chairs during phase A, air-sit cushioned in phase B, and ball chairs in phase C. Sitting times and on-task behaviors were quantified by momentary time sampling and compared during different phases for important changes during 8 wk. Additionally, the Gilliam Autism Rating Scale-Second Edition test was used to examine stereotyped movements, social and communication skills of the students in the before and after research. Results Significant increases in in-seat behaviors in 86.7% (thirteen out of 15) of the students and on-task behaviors in 53.3% of the students (eight out of 15) when seated on therapy balls. Air cushions had no significant effects on in-seat/on-task behaviors. The results also showed significant decrease in stereotyped movement and increase in communication and social skills of these students. The teachers also preferred the use of the balls and/or air-cushioned chairs for their students. Conclusion Therapy ball chairs facilitated in-seat behavior and decreased autism related behavior of the students with Autism Spectrum Disorder in class.

The Effect of Baby Walker on Child Development: A Systematic Review.

Abstract: Baby walkers are used all around the world as a fun equipment without any dangers. In contrast with public beliefs, some researchers have claimed they can cause developmental delay. We aimed to investigate their effect on child development through a systematic review. We searched Pubmed, Google Scholar, Embase, and Scopus for related articles in English and included all study designs. Of 315 articles found in Pubmed, 1630 citations in Google Scholar, 18 articles in Embase, and 38 papers in Scopus, only 9 articles fulfilled the inclusion criteria. Among them, only a cohort and a cross-sectional study reported developmental delay caused by baby walker use. Based on the current data, evidence against baby walker is not enough regarding its negative effect on child development. This subject needs to be addressed more, considering the large number of baby walker users worldwide.

Circadian Rhythm and the Seasonal Variation in Childhood Febrile Seizure.

Abstract: How to Cite This Article: Sharafi R, Hassanzadeh Rad A, Aminzadeh V. Circadian Rhythm and the Seasonal Variation in Childhood Febrile Seizure. Iran J Child Neurol. Summer 2017; 11(3):27-30. AbstractObjectiveWe aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS).Materials & MethodsThis descriptive cross-sectional study was conducted retrospectively on patients’ records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Data were gathered by a checklist including age, sex, temperature, duration of seizure, seasonal, months, diurnal variation, and level of consciousness.ResultsTotally, 349 patients including 193 (55.3%) boys and 156 (44.7%) girls with the mean age of 22.85±18.34 months were enrolled in this study. The mean temperature of patients was 38.45±0.53°C. The mean duration of seizure was 97.91±57 sec. Awake, drowsy and slept patients were noted in 170 (48.7%), 33 (9.5%) and 146 (41.8%) cases, respectively. Most of the FS occurred in winter 118 (33.8%), afternoon 132 (37.8%) and in Jan 55 (15.8%).ConclusionBody temperature adjusted by hypothalamus affecting by circadian rhythm. FS is the most common form of seizure in childhood occurred by multifactorial issues. Otherwise, the occurrence of seizure in patients with epilepsy may be affected by the circadian rhythm. Seizures happen more frequent at a specific time in 24 h during a day.References1. Dube CM, Brewster AL, Richichi C, Zha Q, Baram TZ. Fever, febrile seizures and epilepsy. Trends Neurosci 2007; 30(10):490-6.2. Patterson KP, Baram TZ, Shinnar S. Origins of temporal lobe epilepsy: febrile seizures and febrile status epilepticus. Neurotherapeutics 2014;11(2):242-50.3. Racinais S, Fernandez J, Farooq A, Valciu S, Hynes R. Daily variation in body core temperature using radiotelemetry in aluminium industry shift-workers. J Thermal Biol 2012;37(4):351-4.4. Scales WE, Vander AJ, Brown MB, Kluger MJ. Human circadian rhythms in temperature, trace metals, and blood variables. J Appl Physiol 1988;65(4):1840-6.5. Martinez D, Lenz MD, Menna-Barreto L. Diagnosis of circadian rhythm sleep disorders. Jornal Brasileiro de Pneumologia 2008 34(3):173-80.6. Azevedo CV, Sousa I, Paul K, MacLeish MY, Mondejar MT, Sarabia JA, et al. Teaching chronobiology and sleep habits in school and university. Mind Brain Edu 2008;2(1):34-47.7. Ishihara K. Development of body temperature rhythm: 6 years follow up of three cases. Psychiatr Clin Neurosci 2001;55(3):229-30.8. Torshin V, Vlasova I. Biorhythmologic aspects of seizure activity. Bulletin Exp Biol Med 2001;132(5):1025-8.9. Uberos J, Augustin-Morales M, Molina Carballo A, Florido J, Narbona E, Munoz-Hoyos A. Normalization of the sleep–wake pattern and melatonin and 6- sulphatoxymelatonin levels after a therapeutic trial with melatonin in children with severe epilepsy. J Pineal Res 2011; 50(2):192-6.10. Ogihara M, Shirakawa S, Miyajima T, Takekuma K, Hoshika A. Diurnal variation in febrile convulsions. Pediatr Neurol 2010;42(6):409-12.11. Manfredini R, Vergine G, Boari B, Faggioli R, Borgna- Pignatti C. Circadian and seasonal variation of first febrile seizures. J Pediatr 2004;145(6):838-9.12. Panahandeh K, Harandi V, Esma’ili Jazanabadi F. Evaluation of seasonal variation and circadian rhythm of febrile seizures in children admitted to the pediatric ward of Rasoul-e-Akram hospital. Razi J Med Sci 2008; 15(59): 59-66.13. Mikkonen K, Uhari M, Pokka T, Rantala H. Diurnal and seasonal occurrence of febrile seizures. Pediat Neurol 2015;52(4):424-7.

Does Parent Report Gross Motor Function Level of Cerebral Palsy Children Impact on the Quality of Life in these Children

Abstract: Objective The aim of this study was to assess the effect of parent report gross motor function level of cerebral palsy (CP) children on the parent report quality of life of CP children. Materials & Methods Sampling of this cross-sectional study was done in occupational therapy clinics and CP children's schools in 2016 in Zanjan, Iran. Samples size was 60 CP children aged 6-12 yr and for sampling method, a non-probability convenience was used. For assessing the quality of life of CP children the cerebral palsy quality of life (CP QOL) questionnaire and for assessing the level of gross motor function of CP children the Gross Motor Function Classification System Family Report Questionnaire (GMFCSFRQ) were used. Results The average age of children (22 males and 30 females) was 8.92 yr old (minimum 6 yr and maximum 12 yr). The relationship between the level of gross motor function and participation and physical health was direct and significant (r=0.65). The relationship between functioning, access to services and family health with the level of gross motor function was direct but was not significant (P>0.05) and the relationship between pain and impact of disability and emotional well-being with the level of gross motor function was significant (P<0.05). Conclusion There was no strong correlation between the level of gross motor function and quality of life of children with cerebral palsy. It means that the level of gross motor function cannot be used as a predictor of quality of life for children with cerebral palsy alone.

Duchenne muscular dystrophy (DMD) protein- protein interaction mapping

Abstract: Objective Duchenne muscular dystrophy as one of the mortal diseases is prominent to study in terms of molecular investigation. In this study, the protein interaction map of this muscle-wasting condition is generated to gain a better knowledge of interactome profile of DMD. Materials & Methods Applying Cytoscape and String Database, the protein-protein interaction network was constructed and the gene ontology of the constructed network was analyzed for biological process, molecular function, and cell component annotations. Results The results indicate that among 100 proteins that are related to DMD, Dystrophin, Utrophin, Caveolin 3, and Myogenic differentiation 1 play key roles in DMD network. In addition, the gene ontology analysis showed that regulation processes, kinase activity and sarcoplasmic reticulum are the highlighted biological processes, molecular function, and cell component enrichments respectively for the proteins related to DMD. Conclusion In conclusion, the central proteins and the enriched ontologies can be suggested as possible prominent agents in DMD; however, the validation studies may be required.

Is Herpes Simplex virus (HSV) a sign of Encephalitis in Iranian Newborns? Prevalence of HSV Infection in Pregnant Women in Iran: A Systematic Review and Meta-Analysis.

Abstract: Objective Herpes Simplex virus (HSV) is one of the most common sexually transmitted diseases in the world. This study aimed to determine the prevalence of herpes simplex virus in pregnant women in Iran. Materials & Methods A systematic literature review was conducted to study the HSV subtypes in Persian and English papers through several databases. We searched Pub Med, Scopus, Ovid, Science Direct and national databases as Magiran, Iranmedex and Science Information Database (SID) up to October 2015. Random-effects model were applied to calculate the pooled prevalence of HSV subtypes. Results Five eligible studies were identified, including 1140 participants. The pooled prevalence of HSV infection in pregnant women was 0.64% (95% CI: 0.10- 1.18) in Iran. The pooled prevalence of studies on both HSV-1 and HSV-2 was 0.91% (CI: 0.81-1.02) and studies on only HSV-2 was 0.23% (CI: -0.61-0.63), respectively. Conclusion The prevalence of HSV infection in pregnant women in Iran was higher. HSV infection of the central nervous system, especially with HSV-2, can also cause recurrent aseptic meningitis and monophasic, as well as radiuculitis or myelitis. The performance of screening to detect infection in pregnant women can play an important role in the prevention and treatment of patients and help to prevent the transmission of HSV infection to infants in Iran. Keywords: Herpes simplex virus; Pregnancy; Meta-analysis; Iran

Association of a novel nonsense mutation in kiaa1279 with goldberg-shprintzen syndrome

Abstract: Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures. Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X). Considering the wide range of phenotypic variations in GOSHS, relying on phenotypic characteristics for discrimination of GOSH from similar syndromes may lead to misdiagnosis. Consequently, molecular diagnostic tools would help in accurate diagnosis of such overlapping phenotypes.

The Effect of Kinesio Taping on Handgrip and Active Range of Motion of Hand in Children with Cerebral Palsy.

Abstract: Objective: Kinesio taping is a relatively new technique which uses in rehabilitation of neurologic disease. The aim of this study was to investigate the effects of kinesio taping on hand grip and active range of motion of hand in children with Cerebral Palsy.Materials and Methods: In experimental study with pre-test and three post-test, Thirty two children with cerebral palsy randomly were placed in experimental (n=17) and control group (n=15). Kinesio taping was applied on dorsum of forearm and hand. Evaluation was performed initially, two days after taping and two days after tape removal. Goniometer was used to evaluate active range of motion of wrist extension. Also, vigorimeter was used to evaluate of grip strength.Results: In all variable, data showed that in pre-test there is no difference between groups but in post-tests; initially after application of taping with p<0.05, two days after application of taping with p<0.05 and follow-up (two days after removed taping) with p<0.05 were significantly differences between trial and control group.Conclusion: Kinesio taping in neurorehabilitation of children with cerebral palsy can be a useful option to promote power or grip strength and active range of motion of wrist and thumb.

The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.

Abstract: Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood). Early detection of NPC is important so that therapy with miglustat can delay onset of neurological symptoms and prolong survival. We describe here three infants from Birjand, South Khorasan, eastern Iran in 2016 with splenomegaly and different neurological signs that diagnosis was confirmed by genetic study. In all of them, NPC-509 was pathologically increased. They also had an unreported homozygous mutation (c.1415T>C, p.Leu472Pro) in exon 9 of the NPC1 gene. We found unreported homozygous mutation in NPC gene. Knowing this mutation is significant to our people. Genotype-phenotype correlations for this specific mutation needs to be further studied.

Differences in Mean Platelet Volume and Platelet Count between Children with Simple and Complex Febrile Seizures.

Abstract: How to Cite This Article : Nikkhah A, Salehiomran MR, Asefi SS. Differences in Mean Platelet Volume and Platelet Count between Children with Simple and Complex Febrile Seizures. Iran J Child Neurol. Spring 2017; 11(2):44-47. Abstract Objective The aim of our study was to find the relationship of MPV (Mean Platelet Volume) levels and platelet counts as markers of inflammation between simple and complex febrile seizures. Materials & Methods In this retrospective comparative study, we investigated the recordings of 356 children between 5 months and 6 yr with diagnosis of simple and complex febrile seizure (SFSC 34:592–596. 2. Shinnar S. Febrile seizure. In: Swaiman KF, Ashwal S, Ferriero DM, editors. Pediatric neurology principle & practice. 4th ed, vol. 1.Philadelphia: Lippincott Williams & Wilkins Press; 2006. P. 1079-1089. 3. Shinnar S, Glauser TA. Febrile seizures. In: Pellock JM, Bourgeois FD, Edwin Dodson W. editors. Pediatric 47 epilepsy, Diagnosis & Therapy. 3rd ed. New York: Demos Press; 2008. P. 293- 301. Shinnar S, Glauser TA. Febrile seizures. J Child Neurol 2002; 17(suppl1):S44-S52. 4. Lux AL. Treatment of febrile seizures: historical perspective, current opinions, and potential future directions. Brain Dev 2010; 32(1):42-50. 5. Jons T, Jacobsen S.J. Childhood Febrile Seizures: Overview and Implications. Int J Med Sci 2007; 4(2):110- 4. 6. Iwasaki N, Nakayama J, Hamano K, et al. Molecular genetics of febrile seizures. Symposium I Epilepsia 2002; 43(9): 32-5. 7. Amirsalari S, Keihani doust Z, Ahmadi M, et al. Relationship between iron deficiency anemia and febrile seizures. Iran J Child Neurol 2010; (4)1:27-30. 8. Ghasemi F, Valizadeh F, Taee N. Iron-deficiency Anemia in Children with Febrile Seizures. A Case-Control Study. Iran J Child Neurol 2014; (8) 2:38-44. 9. Bidabadi E, Mashouf M. Association between iron deficiency anemia and first febrile convulsion: a case-control study. Seizure 2009; 18: 347-51. 10. Hartfield DS, Tan J, Yager JY, et al. The association between iron deficiency and febrile seizures in childhood. Clin Pediatr 2009; 48(4): 420-6. 11. Ozaydin E, Arhan E, Cetinkaya B, et al. Differences in iron deficiency anemia and mean platelet volume between children with simple and complex febrile seizures. Seizure 2012; 21(3): 211-214. 12. Weyrich AS. Platelets: more than a sack of glue. American Society of Hematology (ASH). Hematology 2014; 5(1):400-3. 13. Rondina MT, Weyrich AS, Zimmerman GA. Platelets as cellular effectors of inflammation in vascular diseases. Circ Res 2013; 112(11):1506-1519. 14. Semple JW, Italiano JE Jr, Freedman J. Platelet and the immune continuum. Nat Rev Immunol 2011; 11(4):264- 274. 15. Mahmut Abuhandan, Abdullah Solmaz, et al. Evaluation of Selenium Levels and Mean Platelet Volume in Patients with Simple Febrile Convulsion. Iran J Pediatr 2014; 24(4):401-405.

Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014.

Abstract: How to Cite This Article: Seyed Shahabi N, Fakhraee H, Kazemian M, Afjeh A, Fallahi M, Shariati M, Gorji F. Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014. Iran J Child Neurol. Winter 2017; 11(1):43-49. AbstractObjectiveHypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes.Materials & MethodsThis cross –sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014. Diagnosis was made by history, physical & neurological examination and accessible diagnostic tests.ResultsFifty nine hypotonic neonates were identified, forty seven (79.66%) had central hypotonia (Hypoxic ischemic encephalopathy (n= 2), other causes of encephalopathy (n=2), intracranial hemorrhage (n=4), CNS abnormalities (n= 7), chromosomal disorders (n=4), syndromic–nonsyndromic (n=8), and metabolic diseases (n=8). Peripheral hypotonic recognized in 6 infants (10.17%); spinal muscular atrophy (n= 1), and myopathy (n= 5). Six cases (10.17%) remained unclassified. Twelve infants had transient hypotonia. In final study, 18 of 59 infants (30%) died, nearly 90% before one year of age. Twenty-eight (47%) infants found developmental disorders and only 13 (22%) infants achieved normal development in their follow up.ConclusionNeonatal hypotonia is a common event in neonatal period. A majority of diagnosis is obtained by history and physical examination. Neuroimaging, genetic and metabolic tests were also important in diagnosis. Genetic, syndromic–nonsyndromic, and metabolic disorders were the most causes of neonatal hypotonia.References1.Miller VS, Delgado M, Iannaccone ST. Neonatal hypotonia Seminar in neurology 1993; 13 (1):73-83.2. Laugal V, Cossee M, MJ. de Saint –Martin A, Echaniz- Laguna A, Mandel JL, Astruc D, Messer FMJ. Diagnostic approach to neonatal hypotonia: retrospective study on144neonates.Eur J Pediatr 2008; 167:517-523.3. Birdi K, Prasad C, Chodirker B, Chudly AE, The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility. J Chlid Neurol 2005; 20: 803-808.4. Johnston HM.The floppy weak infant revisited. Brain Dev 2003; 25:55-58.5. Crawford TO. Clinical Evaluation of the Floppy infant. Pediatric Annal 1992;16:348-354.6. Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia; An 11 year study. Peditric Neurol 2001; 25:32-37.7. Paro–Panjan D. Congenital hypotonia is there an algorithm. J Child Neurology 2004;19 (6):439-442. 8. Griggs RC, Mendell JR, Miller RG. Cngenital myopathies.in: Evaluation and treatment of myopathies. Philadelphia:FA Davis C; 1995:211-469. Nada Zadeh and Louanne Hudgings. The Genetic Approach to hypotonia in the neonate. NeoReviews 2009; 10; e600-e607.10. Bodenstiener JB. The evaluation of the hypotonic infant Seminar in PediatricNeurology 2008;15:10-20.11. Dubowitz V. Thomas NH. The natural history of type 1(severe) spinal muscular dystrophy. Neuromuscular Disord. 1994;4:497-50212.12. Jimenez E, Garcia – Cazoria A, Colomer J, Nascimento A, Ieiondo M, Compistol J. Hypotonia in the neonatal period: 12 years experience.[Article in Spanish] Rev Neurol 2013 Jan16:56 (2):72-8.

Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.

Abstract: Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4-C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children's Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia.

Tumefactive Multiple Sclerosis Variants: Report of Two Cases of Schilder and Balo Diseases

Abstract: A tumefactive lesion of central nervous system (CNS) is defined as a mass-like lesion with a size greater than 2 cm in brain detected by magnetic resonance imaging (MRI). Neuroimaging may help to distinguish the nature of a tumefactive lesion and therefore, can prevent an unnecessary brain biopsy. Here we emphasized on determining the nature of a CNS tumefactive lesions with the help of MRI and more explanations about demyelinating lesions with focus on Schilder and Balo diseases as two multiple sclerosis variants. We have reported here two boys of 10 and 8 years of age respectively of multiple sclerosis (MS) variants who presented with acute neurologic complications to our hospital as one of the two referral children hospital in Tehran, Iran. Tumefactive demyelinating lesions can be considered a separate entity that itself can contain Schilder disease, Balo disease, some cases of acute disseminated encephalomyelitis (ADEM) or classic MS. MRI can help to establish a diagnosis of a tumefactive lesion and to differentiate among different underlying etiologies.

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure.

Abstract: How to Cite This Article: Nasiri J, Sarajan A, Salari M, Sedghi M. Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children withSeverely Intractable Seizure. Iran J Child Neurol. Summer 2017; 11(3):19-26.AbstractObjectiveTreatment of intractable seizures other than spasms is difficult and controversial.There are few studies on efficacy of adrenocorticotropic hormone (ACTH) in treatment of patients with intractable seizure.Materials & MethodsTwenty-five patients with intractable seizure other than spasm including 14 boys and 11 girls with median age of 58 months referred to university clinics of Pediatric Neurology in Isfahan, Iran, during 2014-2015 were prospectively investigated. ACTH was administrated according to our protocol. All cases were followed regularly and assessed for response to treatment and probable side effects, 3 wk after beginning of ACTH therapy and three months after the ACTH therapy. EEG finding were recorded before and three months after the end of ACTH therapy. Statistical analysis using Freidman test and Wilcoxon signed – rank test were performed in order to compare seizure frequency and EEG changes, respectively.ResultsMean A significant reduction (>80%) in seizure frequency in 11 cases (44%) and moderate reduction (50%-80%) in 7 (28%) after 3 wk of ACTH therapy.Despite initial positive response, recurrence of seizure was observed in 7 out of 18 cases with favorable initial response within 3 months after ACTH therapy cessation. The comparison of EEG finding before and 3 months after ACTH therapy using Wilcoxon signed – rank test showed significant differences.ConclusionACTH therapy may be useful in treatment of children with intractable seizures who are resistant to usual antiepileptic drugs. However further studies should be performed to determine the long-term efficacy of ACTH in treatment of intractable seizure.References1. Dunin-Wąsowicz D, Mazurkiewicz-Beldzinska M, Steinborn B, Wheless J, Joźwiak S. Treatment of pediatric epilepsy in Poland. Eur J Paediatr Neurol 2015;19(3):320-6.2. Oka E, Ohtsuka Y, Yoshinaga H, Murakami N, Kobayashi K, Ogino T. Prevalence of Childhood Epilepsy and Distribution of Epileptic Syndromes: A Population-based Survey in Okayama, Japan. Epilepsia 2006;47(3):626-30.3. Beleza P. Refractory epilepsy: a clinically oriented review. Eur Neurol 2009; 62(2):65-71.4. Pentella K, Bachman D, Sandman CA. Trial of an ACTH4-9 Analogue (ORG 2766) in children with intractable seizures. Neuropediatrics 1982;13(2):59-62.5. Snead OC, Benton JW, Myers GJ. ACTH and prednisone in childhood seizure disorders. Neurology 1983;33(8):966-70.6. Okumura A, Tsuji T, Kato T, Natsume J, Negoro T, Watanabe K. ACTH therapy for generalized seizures other than spasms. Seizure 2006;15(7):469-75.7. Verhelst H, Boon P, Buyse G, Ceulemans B, D’Hooghe M, De Meirleir L, et al. Steroids in intractable childhood epilepsy: clinical experience and review of the literature. Seizure 2005;14(6):412-21.8. Oguni H, Funatsuka M, Sasaki K, Nakajima T, Yoshii K, Nishimura T, et al. Effect of ACTH therapy for epileptic spasms without hypsarrhythmia. Epilepsia 2005;46(5):709-15.9. Haberlandt E, Weger C, Sigl SB, Rauchenzauner M, Scholl-Burgi S, Rostasy K, et al. Adrenocorticotropic hormone versus pulsatile dexamethasone in the treatment of infantile epilepsy syndromes. Pediatr Neurol 2010;42(1):21-7.10. Inutsuka M, Kobayashi K, Oka M, Hattori J, Ohtsuka Y. Treatment of epilepsy with electrical status epilepticus during slow sleep and its related disorders. Brain Dev 2006;28(5):281-6.11. Fujii A, Oguni H, Hirano Y, Osawa M. Atypical benign partial epilepsy: recognition can prevent pseudocatastrophe. Pediatr Neurol 2010;43(6):411-9.12. Inui T, Kobayashi T, Kobayashi S, Sato R, Endo W, Kikuchi A, et al. Efficacy of long term weekly ACTH therapy for intractable epilepsy. Brain Dev 2015;37(4):449-54.13. Kalra V, Sharma S, Arya R. ACTH therapy in refractory generalized epilepsy. Indian J Pediatr 2009;76(1):91-3.14. Kurian M, Korff CM. Steroids in pediatric epilepsy: infantile spasms and beyond. Epileptologie 2011; 28(1):15-20.15. Rogawski MA, DS R. Neurosteroids and infantile spasms: The deoxycorticosterone hypothesis. In: JMR PAS, editor. International Review of Neurobiology Volume 49: Academic Press; 2002. p. 199-219.16. Snead OC. How does ACTH work against infantile spasms? Bedside to bench. Ann Neurol 2001;49(3):288-9.17. Jacobson L, Sapolsky R. The Role of the Hippocampus in Feedback Regulation of the Hypothalamic-Pituitary- Adrenocortical Axis. Endocr Rev 1991;12(2):118-34.18. Sinclair DB. Prednisone therapy in pediatric epilepsy. Pediatr Neurol 2003;28(3):194-8.

Zinc and Copper Metabolism and Risk of Autism: a reply to Sayehmiri et al.

Abstract: Objective Sayehmiri et al. recently conducted a meta-analysis to explore the relationship between zinc and copper metabolism and autism spectrum disorders (ASD). Recent reports have elucidated a full behavioral profile of mice exposed to prenatal zinc deficiency and documented a phenotype similar to that found in autism spectrum disorders (ASD). These studies suggest that significant alterations in Zn metabolism may be an important nutritional component in the development of ASD. Materials & methods The idea that prenatal zinc deficiency may be to blame is cursorily challenged. Epidemiological studies show that high-income countries with a low estimated prevalence of inadequate zinc intake report the highest prevalence of ASD. Consistent with other reports indicating a link between air pollution and ASD, it has recently been proposed that use of the herbicide, glyphosate, in agriculture may serve as an instrumental variable in predicting later neurodevelopmental impairment via emissions of the agricultural air pollutant, nitrous oxide (N2O). Results Work in anesthesiology has demonstrated the neurological effects from subanesthetic doses of N2O, including its inhibition of the alpha 7 nicotinic acetylcholine receptor (α7), a receptor coupled to both central nitric oxide (NO) metabolism and peripheral anti-inflammation. Conclusion This correspondence explores how the aforementioned nutritional phenotypes found by Sayehmiri et al. in their systematic review may be a compensatory mechanism to counter the effects (namely, α7 inhibition) of air pollutant exposures occurring during the most critical stages of fetal development.

Infantile Spasms Treated with Intravenous Methypredinsolone Pulse.

Abstract: How to Cite This Article: Hassanzadeh Rad A, Aminzadeh V. Infantile Spasms Treated with Intravenous Methypredinsolone Pulse. Iran J Child Neurol. Spring 2017; 11(2):8-12. Abstract Objective Infantile spasms is diagnosed late even by expert pediatricians. Late diagnosis (later than 3 weeks) can have a negative effect on the long-term prognosis. We aimed to investigate infantile spasms treated with intravenous methylprednisolone pulse. Materials & Methods In this case series study, 20 infants with infantile spasms in 17-Shahrivar Hospital, Rasht, Iran were enrolled. Drugs were administered based on Mytinger protocol that included 3 days of methylprednisolone pulse and 56 days of oral prednisolone. The control of spasms and the omission of hypsarrhythmia in infants follow-up were the primary and secondary outcomes, respectively. Remission was indicated if the caregivers mentioned no spasms or >50% decrease regarding drug initiation for at least 5 consecutive days and the electroencephalography during sleep period noted the omission of hypsarrhythmia. Results Eleven female (55%) and 9 male (45%) patients with the mean age of 4.95±1.39 months were enrolled. Mean rapid remission was noted as 4.41±1.50 days. Twelve patients (60%) noted early remission. seizure was controlled in 3(15%) patients completely after 24 months. Five (25%) occasional seizures were noted controlled by routine anticonvulsant drugs after 24 months and 12 (60%) no response was mentioned. Most of the patients (65%) had cryptogenic etiology for infantile spasms. Uncontrolled seizure was mentioned after initial remission. Conclusion Methyl prednisolone is an appropriate drug based on easy administering, low cost, and its accessibility. References 1.Widjaja E, Go C, McCoy B, Snead OC. Neurodevelopmental outcome of infantile spasms: a systematic review and meta-analysis. Epilepsy Res 2015;109:155-62. 2. Mackay M, Weiss S, Adams-Webber T, Ashwal S, Stephens D, Ballaban-Gill K, et al. Practice Parameter: Medical Treatment of Infantile Spasms Report of the American Academy of Neurology and the Child Neurology Society. Neurology 2004;62(10):1668-81. 3. Abbas A, Elseed M, Hamed A, Mohamed IN. The role of oral prednisolone in the management of infantile spasms in resource-limited countries: experience from Sudan. Khartoum Med J 2016 Apr 5;7(3): 1012-18. 4. Riikonen R. A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics 1982;13(1):14-23. 5. O’Callaghan FJ, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. The Lancet Neurol 2017;16:33-42. 6. Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, et al. Infantile spasms: a US consensus report. Epilepsia 2010;51(10):2175-89. 7. Hrachovy RA, Frost JD, Kellaway P, Zion TE. Double-blind study of ACTH vs. prednisone therapy in infantile spasms. J Pediatr 1983;103(4):641-5. 8. Delesalle F, Staumont D, Houmany MA, Breviere GM, Piette F. Pulse methylprednisolone therapy for threatening periocular haemangiomas of infancy. Acta Derm Venereol 2006;86(5):429-32. 9. Nguyen J, Fay A. Pharmacologic therapy for periocular infantile hemangiomas: a review of the literature. Semin Ophthalmol 2009: 24(3):178-184. 10. Mytinger JR, Quigg M, Taft WC, Buck ML, Rust RS. Outcomes in treatment of infantile spasms with pulse methylprednisolone. J Child Neurol 2010: 25(8): 948-53. 11. Azam M, Bhatti N, Krishin J. Use of ACTH and prednisolone in infantile spasms: experience from a developing country. Seizure 2005;14(8):552-6. 12. Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Newton RW, et al. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. The Lancet 2004;364(9447):1773-8. 13. Kossoff EH, Hartman AL, Rubenstein JE, Vining EP. High-dose oral prednisolone for infantile spasms: an effective and less expensive alternative to ACTH. Epilepsy Behav 2009;14(4):674-6.

Intermittent Hemiplegia in a Boy with Primary Moyamoya Disease: A Case Report from Iran.

Abstract: How to Cite This Article: Bidaki R, Zarepur E. Intermittent Hemiplegia in A Boy With Primary Moyamoya Disease; A Case Report from Iran. Iran J Child Neurol. Spring 2017; 11(2):65-68. Abstract Moyamoya is a rare chronic progressive occlusive cerebrovascular disease. Its manifestation varies from stroke, progressive learning impairment and transient ischemic attack to headache and seizure. There is no accepted medical treatment and surgery usually, is needed. We report here a case of 8 yr old boy referred to psychiatrist outpatient. An eight yr old boy with intermittent hemiplegia was brought to Imam Ali Clinic, Yazd, Iran in 2015 because his headache and medical problem began from 6 yr old. Stress and excitement exacerbated his condition. His first attack was at the age of 6 yr old. During attack, he had incontinence, severe headache, alogia, pallor, claudication and left hemiplegia (Left lower limb). Magnetic resonance angiography (MRA) was done and our diagnosis was moyamoya disease. Moyamoya is a mysterious disease and psychiatrists should consider it in differential diagnosis of alogia and plegia. Acute management of this disease is mainly symptomatic. Nowadays, surgery is a good choice and early diagnosis of this disease can change our patient’s life. References 1. Hallemeier CL, Rich KM, Grubb RL, Chicoine MR, Moran CJ, Cross DT, et al. Clinical features and outcome in North American adults with moyamoya phenomenon. Stroke 2006;37(6):1490-6. 2. Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969;20(3):288-99. 3. Wakai K, Tamakoshi A, Ikezaki K, Fukui M, Kawamura T, Aoki R, et al. Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin Neurol Neurosurg 1997;99 Suppl 2:S1-5. 4. Duan L, Bao XY, Yang WZ, Shi WC, Li DS, Zhang ZS, et al. Moyamoya disease in China: its clinical features and outcomes. Stroke 2012;43(1):56-60. 5. Im SH, Cho CB, Joo WI, Chough CK, Park HK, Lee KJ, et al. Prevalence and epidemiological features of moyamoya disease in Korea. J Cerebrovasc Endovasc Neurosurg 2012;14(2):75-8. 6. Lutterman J, Scott M, Nass R, Geva T. Moyamoya syndrome associated with congenital heart disease. Pediatrics 1998;101(1 Pt 1):57-60. 7. Peerless SJ. Risk factors of moyamoya disease in Canada and the USA. Clin Neurol Neurosurg 1997;99 Suppl 2:S45-8. 8. Abuzayed B, Khreisat W, Maaiah W, Agailat S. Supratentorial primitive neuroectodermal tumor presenting with intracranial hemorrhage in adult. J Neurosci Rural Pract 2014;5(2):176-9. 9. Yamauchi T, Houkin K, Tada M, Abe H. Familial occurrence of moyamoya disease. Clin Neurol Neurosurg 1997;99 Suppl 2:S162-7. 10. Kim JS. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke 2016;18(1):2-11. 11. Smith ER, Scott RM. Surgical management of moyamoya syndrome. Skull Base 2005;15(1):15-26. 12. Yamada I, Suzuki S, Matsushima Y. Moyamoya disease: comparison of assessment with MR angiography and MR imaging versus conventional angiography. Radiology 1995;196(1):211-8. 13. Nakakita K, Tanaka S, Fukuda A, Fujii C, Kohama A, Miyasato H. [Nontraumatic acute subdural hematoma caused by the rupture of transdural anastomotic vessels in moyamoya disease]. No Shinkei Geka 1994;22(6):561-5. 14. Mughal DK, Nissirios KS, Puri MR. A 30-Year-Old Female with Moyamoya Disease and Associated Depression. Psychiatr Ann 2014;44(12):549-551. 15. Kim T, Oh CW, Bang JS, Kim JE, Cho WS. Moyamoya Disease: Treatment and Outcomes. J Stroke 2016;18(1):21-30.

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.

Abstract: Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E. Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion. This result presents a novel underlying genetic mechanism for LGMD type 2E.

Clinical and Epidemiological Aspects of Multiple Sclerosis in Children.

Abstract: How to Cite This Article: Nasehi MM, Sahraian MA, Naser Moghaddasi A, Ghofrani M, Ashtari F, Taghdiri MM, Tonekaboni SH, Karimzadeh P, Afshari M, Moosazadeh M. Clinical and Epidemiological Aspects of Multiple Sclerosis in Children. Iran J Child Neurol. Spring 2017; 11(2):37-43. Abstract Objective Overall, 2%-5% of patients with multiple sclerosis (MS) experienced the first episode of disease before the age 18 years old. Since the age of onset among children is not similar to that in general population, clinicians often fail to early diagnose the disease. This study aimed to determine the epidemiological and clinical patterns of MS among Iranian children. Materials & Methods In this cross-sectional study carried out in Iran in 2014-2015, information was collected using a checklist with approved reliability and validity. Method sampling was consensus. Data were analyzed using frequency, mean and standard deviation indices by means of SPSS ver. 20 software. Results Totally, 177 MS children were investigated. 75.7% of them were female. Mean (SD), minimum and maximum age of subjects were 15.9 (2), 7 and 18 yr, respectively. The most reported symptoms were sensory (28.2%), motor (29.4%), diplopia (20.3%) and visual (32.8%). Primary MRI results showed 91.5% and 53.1% periventricular and spinal cord lesions, respectively. Conclusion MS is significantly more common among women. The most common age of onset is during the second decades. Sensory and motor problems are the most symptoms, while, periventricular and spinal cord lesions are the most MRI results. References 1. Ascherio A, Munger K. Epidemiology of multiple sclerosis: from risk factors to prevention. Semin Neurol 2008; 28(1): 17-28. 2. Abedidni M, Habibi Saravi R, Zarvani A, Farahmand M. Epidemiologic study of multiple sclerosis in Mazandaran,Iran, 2007. J Mazandaran Univ Med Sci 2008; 18(66): 82-6. 3. Taghdiri MM, Gofrani M, Barzegar M, Moayyedi A, Tonekaboni H. The survey of 20 cases of multiple sclerosis in children in mofid hospital of Tehran. J Rehabil, 2001; 4(6-7):61-67. 4. Benito-Leon J, Martinez P. Health-related quality of life in multiple sclerosis. Neurologia 2003; 18: 207-10. 5. Nedjat S, Montazeri A, Mohammad K, Majdzadeh R, Nabavi N, Nedjat F, et al . Quality of Life in Multiple Sclerosis Compared to the Healthy Population in Tehran. Iran J Epidemiol 2006; 2 (3 and 4) :19-24. 6. Marrie RA. Environmental risk factors in multiple sclerosis aetiology. Lancet Neurol 2004; 3(12):709-18. 7. Milo R, Kahana E. Multiple sclerosis:geoepidemiology, genetics and the environment. Autoimmun Rev 2010; 9(5): A387-A394. 8. Banwell B, Ghezzi A, Bar-Or A, Mikaeloff Y. Multiple sclerosis in children: clinical diagnosis, therapeutic strategies, and future directions. The Lancet Neurol, 2007;6(10):887-902. 9. Ebers GC. Environmental factors and multiple sclerosis. The Lancet Neurol, 2008;7(3):268-277. 10. Noseworthy JH, Lucchinetti C, Rodriguez M, Weinshenker BG. Multiple Sclerosis. N Engl J Med 2000; 343(13):938-52. 11. Rudick RA, Cohen JA, Weinstock-Guttman B, Kinkel RP, Ransohoff RM. Management of multiple sclerosis. N Engl J Med 1997: 337(22): 1604-11. 12. Greer JM, McCombe PA. Role of gender in multiple sclerosis: clinical effects and potential molecular mechanisms. J Neuroimmunol 2011;234(1-2): 7-18. 13. Boiko A, Vorobeychik G, Paty D, Devonshire V, Sadovnick D. Early onset multiple sclerosis A longitudinal study. Neurology 2002; 59(7):1006-1010. 14. . Ashtari F, Shaygannejad V, Heidari F, Akbari M. Prevalence of Familial Multiple Sclerosis in Isfahan, Iran. Journal of Isfahan Medical School, 2011;29(138.2):555- 561. 15. Mazaheri S, Fazlian M, Hossein Zadeh A. Clinical and Epidemiological Features of Early and Adult Onset Multiple Sclerosis in Hamedan, Iran, 2004–2005. Yafteh 2008; 9 (4) :39-44. 16. Saman-Nezhad B, Rezaee T, Bostani A, Najafi F, Aghaei A. Epidemiological Characteristics of Patients with Multiple Sclerosis in Kermanshah, Iran in 2012. J Mazand Univ Med Sci 2013; 23(104): 97-101 (In Persian). 17. Renoux C, Vukusic S, Mikaeloff Y, Edan G. Natural history of multiple sclerosis with childhood onset. N Engl J Med 2007. 356(25): p. 2603-2613. 18. Ness JM, Chabas D, Sadovnick AD, Pohl D, Banwell B, Weinstock-Guttman B. Clinical features of children and adolescents with multiple sclerosis. Neurology 2007; 68(16 suppl 2):S37-S45. 19. Etemadifar M, Janghorbani M,Shaygannejad V, Ashtari F . Prevalence of multiple sclerosis in Isfahan. Iran. Neuroepidemiology 2006; 27(1):39-44 (In Persian). 20. Saadatnia M, Etemadifar M, Maghzi AH. Multiple sclerosis in Isfahan, Iran. Int Rev Neurobiol 2007; 79: 357-75. 21. Nabavi SM, Poorfarzam S, Ghassemi H. Clinical Course and prognosis of 203 patients with MS in shahid Mostafa Khomeini Hospital, Tehran 2002, Tehran University Medical Journal, 200l 64( 7)6: 90-97.

Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report.

Abstract: Acute Necrotizing Encephalopathy of childhood (ANEC) is a specific type of encephalopathy. After viral infection, it can be diagnosed by bilateral symmetrical lesions predominantly observed in thalami & brainstem of infants & children. Although, it is commonly occurred in Japanese and Taiwanese population. The goal of this article is to report a rare case of ANEC in a 15 months old girl infant from Thaleghani Hospital, Ramian, Gorgan, northern Iran.

Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator.

Abstract: Hyperhomocysteinemia can cause cerebral venous thrombosis. Recombinant tissue plasminogen activator is one of the treatment options for cerebral venous thrombosis in selected cases. We present here a 7-year-old boy with homocysteinuria with stroke. MRI of brain showed cerebral venous sinus thrombosis. We successfully treated with intravenous recombinant tissue plasminogen activator. He recovered completely without any complications. Recombinant tissue plasminogen activator can be considered one of the treatment options in cerebral venous thrombosis in homocystinura.

Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in 3 Cases of Tyrosinemia

Abstract: Tyrosinemia Type 1 is a hereditary disorder with liver, kidney and nervous system involvement. We report 3 children developed diaphragmatic paralysis requiring mechanical ventilation after discontinuation of NTBC treatment. In patients with Tyrosinemia type 1, combined treatment with NTBC and a low-tyrosine diet have prevented neurological crises. Treatment with NTBC in the first months of life protects against hepatic and neurologic complications. Neurological crises can occur in tyrosinemia without treatment and also occur when treatment stops. We report three patients that developed diaphragmatic paralysis after interruption of NTBC treatment, which finally required mechanical ventilation. It should be emphasized that discontinuation of NTBC can induce diaphragmatic paralysis and respiratory failure. So we should advise patients to use NTBC for long term and not interrupted it.

Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.

Abstract: Objective Tyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosine diet have prevented neurological crises. The purpose of this article was to express the importance of taking nitisinone (NTBC) for tyrosinemia diseases and risks of inadvertent discontinuation. Materials & methods We describe three children referred to emergency department of Nemazee Hospital, Shiraz, Iran in December 2015 with tyrosinemia type 1 who stopped NTBC treatment, presenting with respiratory. Clinical findings, laboratory results, and imaging study were assessed in three patients on admission and after starting nitisinone. Results All patients developed diaphragmatic paralysis and respiratory distress after interruption of nitisinone treatment. Two of the patients were improved after starting nitisinone. One patient expired due to respiratory failure. Full recovery occurred about 2 months after starting nitisinone. Conclusion Discontinuation of nitisinone can induce diaphragmatic paralysis and respiratory failure. Therefore, we should advise patients to use NTBC for the long term and not interrupt it.

HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions.

Abstract: How to Cite This Article: Tonekaboni SH, Jafari N, Mansouri M, Jabbehdari S, Eftekhari R, Chavoshzadeh Z, Abdollah Gorji F, Mesdaghi M. HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions. Iran J Child Neurol. Spring 2017; 11(2):26-30. Abstract Objective Anticonvulsant drugs can cause various forms of skin drug reactions, ranging from exanthema to severe blistering reactions. An association between HLA-B*1502 allele and severe skin reactions have been reported. Materials & Methods Fifteen patients with severe skin reactions following treatment with anticonvulsant drugs (Carbamazepine, lamotrigine, phenobarbital, primidone) and 15 controls (age-matched epileptic patients taking similar anticonvulsants without drug eruption) were included. They were referred to Mofid Children’s Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from peripheral blood of all patients and HLA- B*1502 genotype was detected by real-time PCR. Results None of the patients was positive for HLA- B*1502, but two patients in control group had positive HLA- B*1502. Conclusion The HLA- B*1502 is not correlated with severe anticonvulsant drugs -induced skin reactions in Iranian children. References 1.Roujeau JC. Clinical heterogeneity of drug hypersensitivity. Toxicology 2005; 209: 123 –9. 2.McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperaviciūtė D, Carrington M, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011; 364(12):1134-43. 3.Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe’er I, Floratos A, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genetic 2009; 41:816–9. 4.Amstutz U, Ross CJ, Castro-Pastrana LI, Rieder MJ, Shear NH, Hayden MR, Carleton BC. CPNDS Consortium; HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children. Clin Pharmacol Ther 2013; 94(1):142-9. 5.Man CB, Kwan P, Baum L, Yu E, Lau KM, Cheng AS, Ng MH. Association between HLA-B*1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia 2007; 48(5):1015-8. 6.Zeng T, Long YS, Min FL, Liao WP, Shi YW. Association of HLA-B*1502 allele with lamotrigine-induced Stevens– Johnson syndrome and toxic epidermal necrolysis in Han Chinese subjects: a meta-analysis. Int J Dermatol 2015; 54(4):488-93. 7.Bastuji-Garin S, Rzany B, Stern RS, Shear NH, Naldi L, Roujeau JC. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Arch Dermatol 1993; 129(1):92-6. 8. Hung SI, Chung WH, Jee SH, Chen WC, Chang YT, Lee WR, et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006; 16(4):297-306. 9. Wang Q, Zhou JQ, Zhou LM, Chen ZY, Fang ZY, Chen SD, et al. Association between HLA-B*1502 allele and carbamazepine-induced severe cutaneous adverse reactions in Han people of southern China mainlan. Seizure 2011; 20 (6):446-8. 10. Li LJ, Hu FY, Wu XT, An DM, Yan B, Zhou D. Predictive markers for carbamazepine and lamotrigine-induced maculopapular exanthema in Han Chinese. Epilepsy Res 2013; 106 (1-2):296-300. 11. Kim SH, Lee KW, Song WJ, Kim SH, Jee YK, Lee SM, et al; Adverse Drug Reaction Research Group in Korea. Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res 2011; 97 (1-2):190-7. 12. Criado PR, Criado RFJ, Avancini JM, Santi CG. Drug reaction with eosinophilia and systemic symptoms (DRESS)/drug-induced hypersensitivity syndrome (DIHS): a review of current concepts. An Bras Dermatol 2012; 87(3):435–49. 13. Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens– Johnson syndrome. Nature 2004; 428: 486. 14. Man CB, Kwan P, Baum L, Yu E, Lau KM, Cheng AS, Ng MH. Association between HLA-B*1502 allele and antiepileptic drug induced cutaneous reactions in Han Chinese. Epilepsia 2007; 48: 1015–8. 15. Locharernkul C, Loplumlert J, Limotai C, Korkij W, Desudchit T, Tongkobpetch S, et al. Carbamazepine and phenytoin induced Stevens–Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia 2008; 49:2087–91. 16. Kaniwa N, Saito Y, Aihara M, Matsunaga K, Tohkin M, Kurose K, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens– Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics 2008; 9: 1617–22. 17. Alfirevic A, Jorgensen AL, Williamson PR, Chadwick DW, Park BK, Pirmohamed M. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 2006; 7: 813–8. 18. Tangamornsuksan W, Chaiyakunapruk N, Somkrua R, Lohitnavy M, Tassaneeyakul W. Relationship between the HLA-B*1502 allele and carbamazepine-induced Stevens- Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. JAMA Dermatol 2013; 149(9):1025-32.