Abstract
INTRODUCTION:Inborn errors of metabolism (IEM) are a group of diseases of genetic origin and they may manifest with seizures at some point of their evolution such as 40 to 60 percent of cases.
SUBJECT:In this study, the clinical and electroencephalographic characteristics were established in a sample of 20 children diagnosed with IEM and epilepsy. METHODS: The methodology was a descriptive way of retrospective case series.
RESULTS:The group was constituted 65 % by males. The EIM of small molecules was the most frequent (70 %). Regarding the clinical variables, 90 % had encephalopathy, 75 % refractory epilepsy and 55 % generalized epilepsy. About the electroencephalographic facts, 90 % had an abnormal basal activity, 80 % poorly structured sleep elements. The most frequent electroencephalographic pattern in small molecules disease's patients was multifocal (36 %) but in deficit of energy production's patients was focal (100 %).
CONCLUSION:The type of IEM that predominated in this study was small molecules, with varying degrees of encephalopathy and refractory epilepsy. The most frequent electroencephalographic variable was abnormal background rhythm, with poorly structured sleep graphoelements. The electroencephalographic pattern depends on the age and type of IEM.
References
Pons MR, Vega CS. Enfoque práctico para el diagnóstico de los errores congénitos del metabolismo. Acta Pediátrica Española. 1998;56(1):39-56.
Sanjurjo P, Baldellou A, Aldámiz-Echevarría K, Montejo M, García Jiménez MC, Aldamiz-Echevarría L. Los errores congénitos del metabolismo como enfermedades raras con un planteamiento global específico. An Sist Sanit Navar. 2008;31(Supl. 2):55-73.
Scriver CR, Beaudet AL, Sly L VD. The metabolic and molecular basis of inherited disease, 7.a ed. MacGraw-Hill; 1995.
Bahi-Buisson N, Dulac O. Epilepsy in inborn errors of metabolism. Handbook of clinical neurology. Elsevier; 2013.
Costanza Lamperti MZ. Myoclonus epilepsy in mitochondrial disorders. Epileptic Disord. 2016;18(s2):s94-102.
Verrotti A, Carelli A, Coppola G. Epilepsy in children with Menkes disease: A systematic review of literature. J Child Neurol. 2014;29(12):1757-64.
Lee HN, Eom S, Kim SH, Kang H-C, Lee JS, Kim HD, et al. Epilepsy characteristics and clinical outcome in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). Pediatr Neurol. 2016;64:59-65.
Stern G. Niemann-Pick's and Gaucher's diseases. Park Relat Disord. 2014;20(Supl. 1):143-6.
El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1-2):4-12.
Sánchez M, Tamara M, Serra J. Errores innatos del metabolismo: aproximación diagnóstica en atención primaria. Bol Pediatr. 2007;111-5.
Vassili V, Bwee Tien PT. Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases. Handb Clin Neurol. 2013;113:1553-62.
Miguel-Soca PE. Enfermedades mitocondriales. Rev Neurol. 2014;58(6):288.
Finsterer J, Zarrouk Mahjoub S. Epilepsy in mitochondrial disorders. Seizure; 2012;21(5):316-21.
Leonard JV, Morris A. Inborn errors of metabolism around time of birth. Lancet. 2000;356(9229):583-7.
Ahrens-Nicklas RC, Slap G, Ficicioglu C. Adolescent presentations of inborn errors of metabolism. J Adolesc Heal. 2015;56(5):477-82.
Barrera LA. Errores innatos del metabolismo: Seis años de investigación en Colombia. Acta Médica Colomb. 1993;18:31-40.
Yu JY, Pearl PL. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013;2013:1-20.
Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015;12(2):157-64.
Hoffmann GF, Kölker S. Defects in amino acid catabolism and the urea cycle. Handbook of Clinical Neurology. Elsevier; 2013.
Kwon J. Testing for inborn errors of metabolism. Child Neurol. 2018;24(1):37-56.
Shakiba M KM. Effect of whole exome sequencing in diagnosis of inborn errors of metabolism and neurogenetic disorders. Iran J Child Neurol. 2018;12(1):7-15.
Trujillo Gómez J, Tobón Carvajal SM, Ortiz Giraldo B, Mesa Restrepo SC, Vélez Rengifo GJ, Cornejo Ochoa JW Caracterización clínica, bioquímica e imagenológica en una cohorte de pacientes diagnosticados con hiperglicinemia no cetósica clásica: estudio ambispectivo 2000-2014, Medellín, Colombia. Acta Neurol Colomb. 2015;31(4):378-84.
Hoover-Fong JE, Shah S, Van Hove JLK, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004;63(10):1847-53.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M AH. Aminoacidopathies: Prevalence, etiology, screening, and treatment options. Biochem Genet. 2018;56(1-2):7-21.
Sharma S, Prasad A. Inborn errors of metabolism and epilepsy: Current understanding, diagnosis, and treatment approaches. Int J Mol Sci. 2017;18(7):1384.
Hwang SK, Kwon S. Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes. Korean J Pediatr. 2015;58(11):407-14.
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, et al. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015;85(4):316-24.
Guida M, Pesaresi I, Fabbri S, Sartucci F, Cosottini M, Giorgi FS. Epilepsy and phenylketonuria: A case description and EEG-fMRI findings. Funct Neurol. 2014;29(1):75-9.
Leuzzi V, Mastrangelo M, Battini CG. Inborn errors of creatine metabolism and epilepsy. Epilepsia. 2013;54(2):217-27.
Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20(6):398-407.
Wong-Kisiel LC, Nickels K. Electroencephalogram of age-dependent epileptic encephalopathies in infancy and early childhood. Epilepsy Res Treat. 2013;2013:743203.
Alfei E, Raviglione F, Franceschetti S, D'Arrigo S, Milani D, Selicorni A, et al. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes. Am J Med Genet A. 2014;12:3154-61.
Tatum WO. Progressive myoclonic epilepsy. Epilepsy Case Stud Pearls Patient Care. 2014;4:81-5.
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, et al. Operational classification of seizure types by the International League Against Epilepsy: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):522-30.
Campistol J. Errores congénitos del metabolismo con crisis epilépticas en los primeros años de vida. Rev Neurol. 2002;35(Supl. 1):3-20.
Campistol J. Síndromes epilépticos del primer año de vida y errores congénitos del metabolismo. Rev Neurol. 2000;30(Supl.1):60-74.
Dinopoulos A, Matsubara KS. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005;86(1):61-9.
Kazmierczuk-Skubis ME, Zatorska-Karpus M, Pac-Kozuchowska E, Bojko-Jaworska J F-JW. Nonketotic hyperglycinemia as the cause of infant seizures--the case study. Ann Univ Mariae Curie Sklodowska Med. 2204;59(1):237-41.
Pearl P. Inherited metabolic epilepsies, 2.a ed. demos MEDICAL, Springer; 2013.
El-Hattab AW. Inborn errors of metabolism. Clin Perinatol. 2015;42(2):413-39.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.