An overview of Leukodystrophy (LD)

How to Cite this Article: Ghofrani M. An overview of Leukodystrophy (LD). Iran J Child Neurol. Autumn 2014; 8:4(suppl. 1):1-2. Pls see pdf

Lysosomal Storage Disease

How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF  

Approach To The First Unprovoked Seizure- PART I

How to Cite This Article: Ghofrani M. Approach To The First Unprovoked Seizure- PART I. Iran J Child Neurol. 2013 Summer; 7(3): 1- 5. The approach to a child who has experienced a first unprovoked generalized tonic-clonic seizure is challenging and at the same time controversial.How to establish the diagnosis, ways and means of investigation and whether treatment is appropriate, are different aspects of this subject.In this writing the above mentioned matters are discussed.References1. Bluvstein JS, Moshe SL. First unprovoked seizure CurrentManagement in child Neurology, third ed. 2005.P.89-92.2. Hirtz D, Berg A, Bettis D, et al. Practice Parameter: treatment of the child with a first unprovoked seizure. American Academy of Neurology 2003;60:166-175.3. Verity GM, Ross EN, Golding J. Epilepsy in the first ten years of life: finding of the child health and education study. Br Med J 1992;305:857-861.4. Camfiled CS, Camfield PB, Gordon K, et al. Incidence of epilepsy in childhood and adolescence: A populationbasedstudy in Nova Scotia from 1977 to 1985. Epilepsia 1996;37:19-23.5. Hauser W, Annegers J, Kurland L. Incidence of epilepsy and unprovoked seizure in Rochester, Minnisota, 1935- 1984. Epilepsia 1993;34:453-468.6. Jallon P, Goumaz M, Haenggeli G, Morabia A. Incidenceof first epileptic seizure in the canton of Geneve Switzerland. Epilepsia 1997;38:547-552.7. Camfiled PR, Camfiled CS. Pediatric Epilepsy: An overview. Swaiman’s pediatric Neurology, 5th ed, 2012. P.703-710.8. Gowers WB. Epilepsy and other chronic convulsive diseases; their causes, symptoms and treatment. London: J&A Churchill,1881. P.242.9. Goddard GV, Mc Intyre DC, Leech CK. A permanent change in brain function resulting from daily electrical stimulation- Exp Neural 1969;25:295-330.10. Berg AT, Shinnar S. Do seizures beget seizure? An assessment of the clinical evidence in human. J ClinicalNeurophysiol 1993: 14: 102-110.11. Wasterlain CG. Recurrent seizures in developing brain are harmful. Epilepsia 1997;38:728-734.12. Meldrum B. Physiologic changes during prolonged seizure and epileptic brain damage. Neuropediatric 1978;9:203-212.13. Chen K, Baram TZ, Soltesz I. Febrile seizure in developingbrain results in persistent modification of neuronal excitability in limbic circuits. Nat Med 1999;5:888-894.14. Schemid B, Tandon P, Stafstrom CE, Holmes CL. Effect of neonatal seizures on subsequent seizure-induced brain injury. Neurology 1999;53: 1754-1761.15. Camfeild PB. Recurrent seizures in the developing brain are not harmful. Epilepsia 1997; 38:735-737.16. Maytal J, Shinnar S, Moshe SL, Alvarez LA. Low morbidity and mortality of status epilepticus in children.Pediatrics 1989; 83:323-331.17. Harvey As, Nolan T, Carlin JB. Community-Based study of mortality in children with epilepsy. Epilepsia 1993;34:597-603.18. Callenbach PM, Westendorp RG, Geerts At, et al. Mortality risk in children with epilepsy: The Dutch Study of epilepsy in childhood. Pediatrics 2001;107:1259-1263.19. Donner EJ, Smith CR. Snead OC. Sudden unexplained death in children with wpilepsy. Neurology 2001;57: 430- 434.20. Camfield CS, Camfiels PR, Veugelers P. Deathe in children with epilepsy; A population-based study. Lancet 2002;315:1891-1895.21. Austin JK. Concerns and fears of children with seizures. Clin Nurs Practice Epilepsy 1993;1:4-10.22. Shinnar Sh, O’Dell Ch, Mitnick R, et al. Neuroimaging abnormalities in children with an apparent first unprovoked seizure. Epilepsy Research 2001;43:261-269.23. Bachman DS, Hodges F, Freeman JM. Computerized axial tomography in chronic seizure disorders of childhood. Pediatrics 1976;58:828-832.24. Nordli DR, Pedley TA. Evaluation of Children with seizure. In: shinnar S, Amir N, Branski D (Eds). Childhood Seizure. S. Kagerm Basel, 1995.P.66-77.25. Gilliam F, Wyllie E. Diagnostic testing of seizure disorders. Neurolo Clin 1996;14: 61-84.26. Kuzniecky RI. Neuroimaging in pediatric epilepsy. Epilepsia 1996;37:S10-S21.27. Scheuer ML, Pedly TA. The evaluation and treatment of seizure. N Eng J Med 1990;232:1468-1474.28. Greenberg MK, Barsan WG, Starkman S. Neuroimaging in the emergency patient with seizure.Neurology 1996 47;26-32.29. King MA, Newton MR, Graeme Gh, et al. Epileptology of the first seizure presentation: A clinical, electroencephalographic and magnetic Resonance Imaging study of 300 consecutive casese.Lancet 1998;352:1007-1011.30. Hirtz D, Ashwal S, Berg A, et al. Practice Parameter. Evaluating a first nonfebrile seizure in children. Report of the quality standards subcommittee of the American Academy of Neurology, The Child Neurology Society. Neurology 2000;55:616-623

Childhood Headache Syndromes(Part I)

Headache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine. Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complain of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity or Ear Nose  and Throat problems are considered secondary. On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine. Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations. In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing. Once the diagnosis is made, a management program can be put into place.Key words: Headaches, Child,  Children, Migraine.

Lysosomal Storage Disease (LSDs)

How to Cite this Article: Ghofrani M. Lysosomal Storage Disease (LSDs). Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 1.pls see pdf

Mitochondrial Disease

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Intractable Epilepsy in Children

ObjectiveEpilepsy is a common disorder affecting approximately 1% of the population. It is estimated that about 20- 30% of the patients become refractory to proper medical therapies. Such cases are often termed intractable. Intractable epilepsy (IE) is a serious condition in children, leading to significant impairment in quality of life, as well as behavioral and psychiatric problems.In this review, we tried to define intractability, mention the causes of intractable epilepsy and its predictive factors in children, and outline the management and various treatments of intractable epilepsy.

Introducing PACT Model of Transformative Persuasion: Re-emergence of Learning Approach to Persuasive Communications

The learning approach to persuasion was considered obsolete following the emergence of new paradigms such as cognitive and constructive approaches. However, according to the evolutions of learning theories and especially the re-emergence of the connectivism paradigm, mainly due to what new technologies have provided, the learning approach to persuasion seems to have reappeared as a powerful approach that has a lot to offer yet. Based on research conducted on transformative learning patterns and algorithms, this paper investigates: i) the applicability of using the patterns and algorithms as well as techniques developed in the transformative learning approach for transformative persuasion, ii) how media can be used in the transformation process. The components of a persuasive transformation model, the factors involved, and major elements of each factor are extracted by constructivist grounded theory (CGT), which is used for theory building, accumulating knowledge and experiences of scholars, practitioners, and experts in adult learning. We show how media can use these factors and elements and notions and techniques developed in transformative learning for the persuasive transformation of their respective audience. Borrowing the concepts of transformative learning concerning the states of mind of the adult students in different stages of the transformation process, we suggest how media can appropriately act in each stage to facilitate a transformation through persuasion

Approach to patients with neurometabolic diseases who show characteristic signs and symptoms

AbstractNeurometabolic disorders are hereditary conditions mainly affect the function of the brain and the nervous system. The prevalence of these disorders is 1 in 1000 live births. Such disorders, at different ages could manifest as sepsis, hypoglycemia, and other neurologic disorders. Having similar manifestations leads to delayed diagnosis of neurometabolic disorders. A number of neurometabolic disorders have known treatments; however, to prevent long‑term complications the key factors are early diagnosis and treatment. Although a large number of neurometabolic diseases have no treatment or cure, the correct and on‑time diagnosis before death is important for parents to have plans for prenatal diagnosis. Different diagnostic procedures could be offered to parents, enzymatic procedures and determining metabolites in plasma, urine, and CSF, and molecular genetic diagnosis. Molecular genetic diagnostic procedures are expensive and could not be offered to all parents. Therefore, we aimed to design algorithms to diagnose neurometabolic disorders according to some frequent and characteristic signs and symptoms. By designing these algorithms and using them properly, we could offer diagnostic enzymatic panels. These enzymatic panels are inexpensive, therefore, could reduce the financial burden on the parents. Also, having an early diagnosis according to these panels could lead to offering more accurate and less expensive molecular genetic tests

Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy

How to Cite This Article: Pirzadeh Z, Ghofrani M, Mollamohammadi M. Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy. Iran J Child Neurol. Spring 2017; 11(2):31-36. AbstractObjectiveIntractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported. The aim of this study was to compare plasma pyridoxal 5´-phosphate level in patients with intractable and controlled epilepsy.Materials & Methods This cross- sectional analytic study included 66 epileptic children, 33 patients with controlled and 33 patients with intractable epilepsy, after neonatal period up to 15 yr old of age. Thirty-three patients with intractable epilepsy (10- 162 months) and 33 patients with controlled epilepsy (14-173 months) were enrolled. The study was conducted in Pediatric Neurology Clinic of Mofid Children Hospital, Tehran, Iran from January 2010 to December 2010. Patients’ clinical manifestations, laboratory and neuroimaging findings were collected. Non-fasting plasma 5´- pyridoxal phosphate levels of these subjects were assessed by high-pressure liquid chromatography.Results Mean plasma 5´- pyridoxal phosphate level (PLP) in patients with controlled epilepsy was 76.78±37.24 (nmol/l) (15.5-232.4). In patients with intractable epilepsy, mean plasma 5´- pyridoxal phosphate was 98.67± 80.58 (25.5- 393) nmol/l. There was no statistically significant difference between plasma pyridoxal phosphate levels of these two groups (P═0.430).Conclusion Pyridoxine dependent epilepsy is under diagnosed because it is manifested by various types of seizures. Plasma pyridoxal phosphate levels did not differ in our patients with intractable or controlled epilepsy. If PDE is suspected on clinical basis, molecular investigation of ALDH7A1 mutations, as feasible test, until PDE biomarkers becomes available is recommended. References1.Cown LD. The epidemiology of the epilepsies in children. Ment Retard Dev Disabil Res Rev 2002;8(3):171-81.2.French JA. Refractory epilepsy: clinical overview. Epilepsia 2007;48 Suppl 1:3-7.3.Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, et al. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. Epileptic Disord 2013;15(4):400-6.4.Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 2001; 43(6):416-20.5.Akhoondian J, Talebi S. High dose oral pyridoxine for treatment of pediatric recurrent intractable seizure. MJIRI 2004; 17(4):301-4.6.Ramachandrannair R, Parameswaran M. Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study. Eur J Paediatr Neurol 2005;9(6):409- 13.7. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in UK. Arch Dis Child 1999;81(5):431-3.8. Yaghini O, Shahkarami MA, Shamsaii S. Neglected atypical pyridoxine dependent seizures. Iran J Pediatr 2010;20(4):498-501.9. Lumeng L, Lui A, Li TK. Plasma content of B6 vitamers and its relationship to hepatic rat B6 metabolism. J Clin Inves 1980;66(4):686-95.10. Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 2006;29(2-3):317-26.11. Goyal M, Fequiere PR, McGrath TM, Hyland K. Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. Pediatr Neurol 2013;48(3):227-31.12. Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT. Pyridoxal 5’-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis 2011; 34(2):529-38.13. Morris MS, Picciano MF, Jacques PF, Selhub J. Plasma pyridoxal 5’-phosphate in the US population: the National Health and Nutrition Examination Survey, 2003-2004.Am J Clin Nutr 2008;87(5):1446-54.14. Setiawan B, Giraud DW, Driskell JA. Vitamin B-6 inadequacy is prevalent in rural and urban Indonesian children. J Nutr 2000;130(3):553-8.15. Shin YS, Rasshofer R, Endres W. Pyridoxal-5’-phosphate concentration as marker for vitamin-B6-dependent seizures in the newborn. Lancet 1984;2(8407):870-1.16. Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, et al. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia 2013;54(2):239-48.17. Gospe SM. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatr Neurol 2002;26(3):181-5.18. Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, et al. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005;36(3):200-5.19. Albersen M, Groenendaal F, van der Ham M, de Koning TJ, Bosma M, Visser WF, et al. Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants. Pediatrics 2012;130(1):e191-8.20. Ormazabal A, Oppenheim M, Serrano M, García-Cazorla A, Campistol J, Ribes A, et al. Pyridoxal 5’-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab 2008;94(2):173-7.21. Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.Mol Genet Metab. 2011 Sep- Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24.22. Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763(12):1733-48.23. Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006;12(3):307-9.24. Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics 2012; 130(6):e1716-9.25. Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C. The measurement of urinary Δ¹- piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency. J Inherit Metab Dis 2012;35(5):909-16.26. Nam SH, Kwon MJ, Lee J, Lee CG, Yu HJ, Ki CS, et al. Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. Ann Clin Lab Sci 2012;42(1):65-72.27. Yang Z, Yang X, Wu Y, Wang J, Zhang Y, Xiong H, et al. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. PLoS One 2014;9(3):e92803.28. Jung S, Tran NT, Gospe SM Jr, Hahn SH. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab 2013;110(3):237-40.