An Approach to Neurometabolic Epilepsy in Children with an Underlying
Iranian Journal of Child Neurology,
Vol. 14 No. 2 (2020),
9 March 2020
Although in born errors of metabolism are rare, but total prevalence is . approximately 40-60% of IEM (inborn errors of metabolism)may present with epilepsy as one of the main clinical presentations and substantial number of them have specific treatment and obligates timely and appropriate diagnosis to prevent irreversible insults.
Materials of methods
Two years retrospective review of 128 documented neurometabolic patients, selected and evaluated in the mofid children hospital, tehran, Iran according to pre-prepared questionnaire to investigate epilepsy prevalence and seizure phenotype.the results were evaluated using spss version 23.
Seizure was reported in 49% (63/128) of all patients. The seizure was single episode in 7 patients (7%) .epilepsy prevalence was 42%(54/128) .The most common seizure types were GTC (43%), tonic (22%) and myoclonic (10%) respectively. Epilepsy was medically refractory in 30% () and mean Anti -seizure drug number administered for refractory cases was 3.2. 50% of refractory cases had mixed type seizures and 25% GTC and myoclonic seizures.
Neurometabolic disorders are rare but treatable etiology of epilepsy and considerable percent of them 42%(current study) present epilepsy as part of clinical feature
Key words: inborn errors of metabolism,neurometabolic disorders,epilepsy
How to Cite
J. M. Saudubray, F. Sedel and J. H. Walter, “Clinical Approach to Treatable Inborn Metabolic Diseases: An Introduction,” Journal of Inherited Metabolic Disease, Vol. 29, No. 2-3, 2006, pp. 261-274.
I.B.Youssef-Turki,I.Kraoua,S.Smirani,Epilepsy Aspects and EEG Patterns in Neuro-Metabolic Diseases,Journal of Behavioral and Brain Science, 2011, 1, 69-74
Mohamed S, El Melegy EM, Talaat I, etal.Neurometabolic Disorders-Related Early ChildhoodEpilepsy: A Single-Center Experience in Saudi Arabia.PediatrNeonatol 2015; 56(6):393-401.
Mikati MA, Hani AJ. Seizures in Childhood. In:Kliegman RM, Stanton BF, St Geme JW, SchorNF, editors. Nelson Textbook of Pediatrics. 20th ed.Philadelphia: Elsevier;2016.p.2823-56
El-HattabAW,In born errors of metabolism.clin perinotol,2015;42(2):413-39
S.Sharma,A.N.Prasad.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches,Int. J. Mol. Sci, 2017; 18, 1384
Pascual, J.M.; Campistol, J.; Gil-Nagel, A. Epilepsy in inherited metabolic disorders. Neurologist 2008, 14,S2–S14.
Campistol, J.; Plecko, B. Treatable newborn and infant seizures due to inborn errors of metabolism. Epileptic Disord. 2015, 17, 229–242.
Aicardi J. Epilepsy in children. 3rd edition ed. New York: Mac Keith Press, 2004.
Papetti L, Parisi P, Leuzzi V, et al. : Metabolic epilepsy:An update. Brain & Development 35:827-41;2013.
Rahman S, Footitt E, Varadkar S, Clayton P: Inborn errors of metabolism causing epilepsy.Dev Med Child Neurol 55:23-36;2013.
TumieneB,PeterlinB,MaverA,Utkus A:contemporary scope of in born errors of metabolism involving epilepsy or seizures.metabolic brain disease 2018
Dulac O, Plecko B, Gataullina S, Wolf NI .Occasional seizures,epilepsy, and inborn errors of metabolism. Lancet Neurol. 2014;13(7):727–739
Ibrahim M, Parmar HA, Hoefling N, Srinivasan A .Inborn errors ofmetabolism: combining clinical and radiologic clues to solve the mystery. AJR Am. J. Roentgenol.2014; 203(3):W315–W327
Kölker S, Garcia-Cazorla A, Valayannopoulos Vet al .The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1:the initial presentation. J. Inherit. Metab. Dis. 2015;38(6):1041–1057
Longo MG, Vairo F, Souza CF, Giugliani R, Vedolin LM .Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases. Neuroimaging Clin. N. Am. 2015;25(1):31–51
Pearl PL.Inherited metabolic epilepsies. Demos medical publishing,LLC.2013
KamebeekC,SaysonB,LeeJ,TsengL.Algorithm with focus on treatable J
Kwon J.testing for inborn errors of metabolism.continuum.2018;24(1);37-5
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