Early onset epilepsy and inherited metabolic disorders

• Verfasst von: Prasad, Asuri [VerfasserIn]
• Verfasst von: Hoffmann, Georg F. [VerfasserIn]
• Titel: Early onset epilepsy and inherited metabolic disorders
• Titelzusatz: diagnosis and management
• Verf.angabe: Asuri N. Prasad, G.F. Hoffmann
• E-Jahr: 2010
• Jahr: May 2010
• Umfang: 9 S.
• Fussnoten: Elektronische Reproduktion der Druckausgabe ; Gesehen am 05.05.2023
• Titel Quelle: Enthalten in: Canadian Neurological Sciences FederationThe journal / Canadian Neurological Sciences Federation
• Ort Quelle: Cambridge : Cambridge Univ. Press, 2009
• Jahr Quelle: 2010
• Band/Heft Quelle: 37(2010), 3 vom: Mai, Seite 350-358
• ISSN Quelle: 2057-0155
• DOI: doi:10.1017/S0317167100010246
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1844697576

Abstract

Epileptic encephalopathies presenting in early life present a diagnostic and therapeutic challenge. These disorders present with multiple seizure types that are treatment resistant and associated with significant abnormalities on electroencephalographic studies. The underlying etiology in many cases may be related to an inborn error of metabolism. Efforts to establish the specific diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. In this review, we present the clinician with information that provides a rationale for a selective and nuanced approach to biochemical assays, and initial treatment strategies while waiting for a specific diagnosis to be established. A careful consideration of the presentation, identification of potentially treatable conditions, and consultation with the biochemical genetics laboratory can lead to a greater measure of success while limiting cost overruns. Such a targeted approach is hoped will lead to an early diagnosis and appropriate interventions.