neurometabolic diagnosis in children who referred as neurodevelopmental delay (a practical criteria, in iranian pediatric patients)

how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbehdari j, khayat zadeh s, ahmad abadi f, lotfi a. neurometabolic diagnosis in children who referred as neurodevelopmental delay (a practical criteria, in iranian pediatric patients). iran j child neurol. summer 2016; 10(3):73-81.   objective we aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. materials & methods the patients diagnosed as neuro developmental delay and regression with or without seizure at the neurology department of mofid children hospital in tehran, iran between 2004 and 2014 were included in our study. these patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. the patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab. results overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. the average age of patients was 41 +-46.1 months. 71.4% of parent’s patients had consanguinity of marriages. eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of: 1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients). conclusion in patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases.   references brismar j. ct and mri of the brain in inherited neurometabolic disorders. j child neurol 1992 apr;7 suppl:s112-31. barkovich aj. an approach to mri of metabolic disorders in children. j neuroradiol 2007; 34(2):75-88. barkovich aj. a magnetic resonance approach to metabolic disorders in childhood. rev neurol 2006 10;43 suppl 1:s5-16. zimmerman ra. neuroimaging of inherited metabolic disorders producing seizures. brain dev 2011;33(9):734-44. cakir b, teksam m, kosehan d, akin k, koktener a.inborn errors of metabolism presenting in childhood. j neuroimaging 2011;21(2):e117-33. burton bk. inborn errors of metabolism in infancy: a guide to diagnosis. pediatrics 1998;102(6):e69. iman g. mahmoud m, marwa m, miral r, marian g, nevin w, ameera e. clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in egyptian patients. pediatr neurol 2014;140e-148. sarar m, ebtessam m, melegy b, iman t, amany h, khaled k. neurometabolic disorders-related early childhood epilepsy: a single-center experience in saudi arabia. pediatr neurol 2015; 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