Approach to Organic Acidemia

Organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. They result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism. Organic acids also are found in the urine of some patients with mitochondrial disease.Most organic acidemias become clinically apparent during the newborn period or early infancy. After an initial period of well-being, affected children develop a life-threatening episode of metabolic acidosis characterized by an increased anion gap. This presenting episode may be mistaken for sepsis, and if unrecognized, is associated with significant mortality.Children with an organic acidemia are susceptible to metabolic decompensation during episodes of increased catabolism, such as intercurrent illness, trauma, or surgery. Parents and clinicians must be well informed about the initial signs of decompensation and trained in applying an emergency regimen . Surgeons and anesthesiologists should be aware of potential complications and their prevention during anesthesia and surgery.Diagnosis has been facilitated through the use of gas chromatograph-mass spectrometry (GC-MS) and tandem mass spectrometry .Prenatal diagnosis is available for most disorders by detection of diagnostic compounds in amniotic fluid; by analysis of enzyme activities in amniocytes or chorionic villi; by molecular analysis; or by a combination of the three . Diagnosis also may be made through newborn screening by tandem mass spectrometry .Laboratory findings are an essential part of the diagnostic approach to organic acidemias. In most organic acidemias, metabolism of glucose, ketone bodies, and ammonia is deranged primarily or secondarily, in addition to derangement of the acid-base balance. Hypoglycemia, lactic and/or ketoacidosis, and hyperammonemia of varying severity accompany the overt or compensated acidosis. In most instances, a definite diagnosis will be achieved by gas chromatography/mass spectrometry (GC/MS) studies of the urine.However sometimes definite diagnosis by clinical and laboratory assessments is not conclusive, in this cae diagnostic approach must be supported by loading tests. The majority of organic acidemias may be treated by limiting the source of intake or removing the toxic intermediary metabolite. In the case of disorders lacking an effective treatment, an early diagnosis could lead to proper genetic counseling of the parents and to the option of reliable prenatal diagnosis of future pregnancies

Role and Function of Mitochondria

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Metachromatic leukodystrophy: Overveiw

How to Cite This Article: Zamani GR. Metachromatic leukodystrophy: Overveiw. Iran J Child Neurol Autumn 2014;8:4 (suppl.1):5-6. Pls see pdf

Approach to Lysosomal Disorders

How to Cite this Article: Zamani Gh. Approach to Lysosomal Disorders. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):3-4 Pls see PDF

Coupling between time series: a network view

Recently, the visibility graph has been introduced as a novel view for analyzing time series, which maps it to a complex network. In this paper, we introduce new algorithm of visibility, "cross-visibility", which reveals the conjugation of two coupled time series. The correspondence between the two time series is mapped to a network, "the cross-visibility graph", to demonstrate the correlation between them. We applied the algorithm to several correlated and uncorrelated time series, generated by the linear stationary ARFIMA process. The results demonstrate that the cross-visibility graph associated with correlated time series with power-law auto-correlation is scale-free. If the time series are uncorrelated, the degree distribution of their cross-visibility network deviates from power-law. For more clarifying the process, we applied the algorithm to real-world data from the financial trades of two companies, and observed significant small-scale coupling in their dynamics

Comparing Mental Health of School-Age Children with and without Epilepsy

How to Cite This Article: Shamsaei F, Cheraghi F, Zamani Ghr. Comparing Mental Health of School-Age Children with and without Epilepsy: A Case Control Study. Iran J Child Neurol. Summer 2016; 10(3):35-41. AbstractObjectiveMental health problems frequently occur in children with epilepsy but the diagnosis is frequently missed and therapeutic opportunities are often lost. The aim of this study was to compare mental health statues between school-aged children with epilepsy and the healthy group.Materials & Methods In this case, control study, 120 children aged 6 to 12 years with idiopathic epilepsy and 240 healthy control groups were followed up. Children with epilepsy were enrolled from Iranian Epilepsy Association in 2014. The parent version of Child Symptom Inventory-4 questionnaire was used. Mean comparisons were performed using Student’s t test while effect sizes were estimated by Cohen’s d coefficient. The Chi-Square test was used to assess the difference between frequency distribution of demographic variables in both groups. The significance level was considered less than 0.05.ResultsThere were statistically significant differences between children with epilepsy and control group as for attention deficit hyperactivity disorder, generalized anxiety disorder, major depression, separation anxiety, social phobia, motor and vocal tics and oppositional defiant disorder.ConclusionThe carefully evaluating and prospectively following the psychopathology symptom of children with epilepsy are critical for early identification, prevention and treatment.ReferencesValizadeh L, Barzegar M, Akbarbegloo M, Zamanzadeh V, Rahiminia E, Ferguson CF. The relationship between psychosocial care and attitudes toward illness in adolescents with epilepsy. Epilepsy Behav 2013; 27(1):267-71.Russ SA, Larson K, Halfon N. A national profile of childhood epilepsy and seizure disorder. Pediatrics 2002; 129(2):256-264.Kotsopoulos IA, van Merode T, Kessels FG, de Krom MC, Knottnerus, JA. Systematic review and meta-analysis of incidence studies of epilepsy and unprovoked seizures. Epilepsia 2002; 43(11):402–1409.Sayehmiri K, Tavan H, Sayehmiri F, Mohamadi I, Carson KV. Prevalence of Epilepsy in Iran: A Meta-Analysis and Systematic Review. Iran J Child Neurol 2014; 8(4): 9–17.Salpekar JA, Dunn DW. Psychiatric and psychosocial consequences of pediatric epilepsy. Semin Pediatr Neurol 2007; 14(4): 181-8.Ott D, Siddarth P, Gurbani S, Koh S, Tournay A, Shields WD, Caplan R. Behavioral disorders in pediatric epilepsy: unmet psychiatric need. Epilepsia 2003; 44(4): 591-597.Davies S, Heyman I, Goodman R. A population survey of mental health problems in children with epilepsy. Dev Med Child Neurol 2003; 45(5):292-295.Maia Filho HS, Costa CRM, Gomes MM. Epilepsia e Saúde Mental na Infância. J Epilep Clin Neurophysiol 2006; 12(2):79-88.Gaitatzis A, Carroll K, Majeed A, Sander J. The epidemiology of the comorbidity of epilepsy in the general population. Epilepsia 2004; 45(2):1613-1622.Jones JE, Watson R, Sheth R, Caplan R, Koehn M, Seidenberg M, Hermann B. Psychiatric comorbidity in children with new onset epilepsy. Dev Med Child Neurol 2007; 49(7):493-7.Gadow KD, Sprafkin J. Child symptom inventory-4 Screening and norms manual. Stony Brook, NY: checkmate Plus Ltd, 2002.Dulcan MK, Mina K. Dulcan’s Textbook of Child and Adolescent Psychiatry. 1st ed, American Psychiatric Pub, 2010.Jafari N, Mohammadi MR, Khanbani M, Farid S, Chiti P. Effect of Play Therapy on Behavioral Problems of Maladjusted Preschool Children. Iran J Psychiatry 2011 6(1): 37–42.Hermann B, Jones J, Dabbs K, Allen CA, Sheth R, Fine J, McMillan A, Seidenberg M. The frequency, complications and etiology of ADHD in new onset pediatric epilepsy. Brain 2007; 130(Pt 12):3135-48.Kaner AM. Psychiatric Comorbidity in Children with Epilepsy … or Is It: Epilepsy Comorbidity in Children with Psychiatric Disorders? Epilepsy Curr 2008; 8(1): 10–12.Williams J Steel C, Sharp GB, DelosReyes E, Phillips T, Bates S, Lange B, Griebel ML. Parental anxiety and quality of life in children with epilepsy. Epilepsy Behav 2003; 4(5): 483–486.Stefanello S, Marín-Léon L, Fernandes PT, Li LM, Botega NJ. Depression and anxiety in a community sample with epilepsy in Brazil. Arq Neuropsiquiatria 2011; 69 (2):342-348.Dunn DW, Austin JK, Perkins SM. Prevalence of psychopathology in childhood epilepsy: categorical and dimensional measures. Dev Med Child Neurol 2009; 51(5):364-372.McDermott S, Mani S, Krishnaswami S. A population-based analysis of specific behavior problems associated with childhood seizures. J Epilepsy 1995; 8(2):110–118.Davies S, HeymanI Goodman R. Apopulation survey of mental health problems in children with epilepsy. Dev Med Child Neurol 2003; 45(5):292-295.Parisi R, Moavero R, Verrotti A, Curatolo P. Attention deficit hyperactivity disorder in children with epilepsy. Brain Dev 2010; 32(1):10–16

The Efficacy and Safety of Tizanidine in Treating Spasticity in Children with Cerebral Palsy

ObjectiveSpastic cerebral palsy (CP) is one of the most difficult and disabling conditions that requires medical attention and treatment. The aim of this study was to assess the efficacy and safety of oral tizanidine in treating spasticity in children with spastic CP.Materials & MethodsSixty children with spastic cerebral palsy were enrolled in a double-blind, placebo-controlled, randomized clinical trial. These patients were randomly assigned to receive tizanidine or a matching placebo. Sample normalization was not performed either before or after the study in these two separate groups. Nevertheless, no significant statistical difference was found between the two concerned groups in terms of age, sex, or type of spasticity. Each patient received the treatment for 2 weeks between May 2010 and February 2011.ResultsThirty-one boys and 29 girls with a mean age of 7.3 ± 3.4 years were evaluated. Our study revealed that spasticity was reduced in 50% of the patients receivingthe drug tizanidine compared to only 6.7% of the patients receiving the placebo. Additionally, 66.7% of patients reported less pain on the affected side receivingtizanidine (group A) compared to 13.3% of patients receiving the placebo (group B). No serious side effects were reported in this study.ConclusionTizanidine is effective and safe in decreasing the spastic hypertonia associated with cerebral palsy in children.Keywords: Tizanidine; spasticity; cerebral palsy; children  

Long-term Follow-up Study of Pulmonary Function Test in Children with History of Hydrocarbon Aspiration

Background Aspiration of hydrocarbons causes several acute and chronic pulmonary complications; it may even lead to death. The aim of this study was to investigate the types of long-term pulmonary complications in children with a history of hydrocarbon aspiration. Materials and Methods In this case-control study, 21 children with history of hydrocarbon aspiration in the past 1-10 years were considered as case group, and 63 children without history of toxicity were regarded as the control group. The two groups were matched in terms of age and gender. Both groups underwent physical examination (such as height, weight and body mass index), and pulmonary function tests by spirometry. Pulmonary function was categorized based on three spirometric patterns, normal, obstructive, and restrictive. In addition, the baseline characteristics of children and information obtained from clinical and paraclinical examinations during poisoning were recorded in a researcher-made checklist. The obtained data were analyzed using SPSS software (version 16.0). Results The percentage of normal, obstructive and restrictive spirometric patterns were 61.89%, 28.58%, and 9.52% in the case group, and 88.88%, 11.11% and 0% in the control group, respectively (P 0.05). The results of the pulmonary function test were not related to the time elapsed from poisoning (P> 0.05). Conclusion Based on the results, long-term hydrocarbon poisoning caused pulmonary dysfunction in terms of spirometric patterns in children. Keywords:Aspiration; Children; Hydrocarbons; Poisoning; Pulmonary functio

Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran

How to Cite This Article: Molla Mohammadi M, Tonekaboni SH, Khatami AR, Azargashb E, Tavasoli A, Javadzadeh M, Zamani GR. Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran. Iran J Child Neurol. 2013 Autumn; 7(4):24-31.ObjectiveSeizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis.First unprovoked seizures (FUS) are seizures that occur in patients without fever, trauma or infection. Due to the rapid improvement in diagnostic techniques in the last few decades, the etiology will be revealed and this term will no longer exist. This Study was designed to evaluate brain imaging findings in FUS patients. Materials & MethodsNinety-six children with FUS, who were admitted in three major children’s hospitals in Tehran, underwent brain imaging and were enrolled into the study.The decision about the type of imaging (CT or MRI) was based on the patient’s medical and financial conditions. An expert radiologist in the field of pediatric neuroimaging interpreted the images. ResultsAltogether, 27.1% had abnormal findings of which 29.2% were in the brain MRI group and 14.3% were in the brain CT scan group.Abnormal results were gliosis (10.4%), hemorrhage (4.2%), dysgenesis (2.1%), dysmyelination (7.3%), encephalomalacy (1%), atrophy (5.2%) and infarction (2.1%). In some patients, the lesions were in 2 or 3 sites and some had more than one type of lesion.There was no association between the duration, age and type of seizure and imaging abnormlities. However, we found an association between the location of the lesion and the type of seizure. ConclusionWe recommend brain imaging in all patients with FUS and apart from some exceptions, brain MRI is superior to CT. ReferencesJohnston MV. Siezure in childhood. In: Kliegman RM, Behrman RE, editors. Nelson text book of pediatrics. 18th ed. Philadelphia: Saunders; 2010. p. 2457-70.Bluestein JS, Moshe SL. First unprovoked seizure. In: Maria BL, editor. Currents in management in child neurology. 3rd ed. Hamilton: BC Decker; 2005. p. 89-92.Khodapanahandeh F, Hadizadeh H. Neuroimaging in children with first afebrile seizures: to order or not to order? Arch Iran Med 2006 Apr;9(2):156-8.Alawaneh H, Bataineh HA. Urgent neuroimaging in children with first nonfebrile seizures. Middle East JFam Med 2008 Feb;6(1):24-6.Shinnar S, O’Dell C, Mitnick R, Berg AT, Moshe SL. Neuroimaging abnormalities in children with an apparent first unprovoked seizure. Epilepsy Res 2001 Mar;43(3):261-9.Kalnin AJ, Fastenau PS, deGrauw TJ, Musick BS, Perkins SM, Johnson CS, et al. Magnetic resonance imaging findings in children with a first recognized seizure. Pediatr Neurol 2008 Dec;39(6):404-14.King MA, Newton MR, Jackson GD, Fitt GJ, Mitchell LA, Silvapulle MJ et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet 1998 Sep 26;352(9133):1007-11.Pohlmann-Eden B, Beghi E, CarnfieldC, Carnfield P. The first seizure and its management in adults and children. BMJ 2006 Feb;332(11):339-34.Raman S, Susan K, Joyce W. Paroxysmal disorders.In: Menkes J, editor. Child neurology. 7th ed. Philadelphia: Lipincott; 2006. p. 857-942.Wical B. The first unprovoked seizure.Gillette Children’sSpecialty Healthcare. A PediatricPerspective 1999 Mar;8(3).Bano S, Yadav SN.Neuroimaging in epilepsy.Medi-Focus2010 Apr-Sep;9(3&4):2-4.Rauch DA,Carr E, Harrington J.Inpatient brain MRI for new-onset seizures: utility and cost effectiveness.Clin Pediatr (Phila) 2008 Jun;47(5):457-60.Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L et al. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009 Sep;50(9):2147-53.Barkovich AJ. Techniques and methods in pediatric neuroimaging. 4thed. Philadelphia: Lippincott Williams &Wilkins; 2005. p. 4-7.Doescher JS, deGrauw TJ, Musick BS, Dunn DW, Kalnin AJ, Egelhoff JC et al. Magnetic resonance imaging and electroencephalic findings in a cohort of normal children with newly dignosed seizures. J Child Neurol 2006 Jun; 21(6):490-5. 

A case report of congenital myasthenic syndrome caused by a mutation in the CHRNE gene in the Iranian population

Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmission at the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease, caused by different DNA mutations, is genetically inherited. It is also associated with mutations of genes at NMJ, involving the acetylcholine receptor (AChR) subunits. Here, we present the case of a five-year-old Iranian boy with CMS, undergoing targeted sequencing of a panel of genes, associated with arthrogryposis and CMS. The patient had six affected relatives in his genetic pedigree chart. The investigations indicated a homozygous single base pair deletion at exon 12 of the CHRNE gene (chr17:4802186delC). This region was conserved across mammalian evolution and was not submitted to the 1000 Genomes Project database. Overall, the CHRNE variant may be classified as a significant variant in the etiology of CMS. It can be suggested that the Iranian CMS population carry regional pathogenic mutations, which can be detected via targeted and whole genome sequencing