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Acta Neurológica Colombiana

Print version ISSN 0120-8748

Abstract

ORTIZ, Blair et al. Electro clinical characteristics in pediatric patients with inborn errors of metabolism (IEM) and epilepsy. Acta Neurol Colomb. [online]. 2019, vol.35, n.3, pp.140-145. ISSN 0120-8748.  https://doi.org/10.22379/24224022261.

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.

Keywords : neurological manifestations; electroencephalography; epilepsy; metabolism inborn errors; non ketotic hyperglycinemia; encephalopathy (MeSH).

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