ArticleEuropean journal of neurology2025
The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study.
Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundNew-onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to The National Hospital for Neurology and Neurosurgery, London, between 2004 and 2021.
methodsDemographic, clinical, biochemical, and molecular data were collected. Sixty-two per cent of the cohort was classified as cryptogenic (cNORSE), while 38% had symptomatic NORSE (sNORSE).
resultsDespite extensive investigations (100 metabolic-related tests were performed among the 42 cases), inherited disorders of metabolism were not identified as causes for NORSE. Nevertheless, three patients with refractory status epilepticus (RSE), who did not fulfill the diagnostic criteria for NORSE, had a primary mitochondrial disease (PMD). These data help establish criteria that distinguish PMD-related RSE from cNORSE, including pre-existing multisystemic features, a positive family history and/or suggestive MRI findings.
conclusionThe study highlights the challenges in diagnosing NORSE aetiology and the limited utility of extensive testing for inherited metabolic disorders in this patient population. Further research is required to refine diagnostic strategies and enhance our understanding of the heterogeneous aetiology of cNORSE.
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