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1.
Dan Med Bull ; 58(9): A4305, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21893010

RESUMEN

INTRODUCTION: Epilepsy is often misdiagnosed and approximately one in every four patients diagnosed with refractory epilepsy does not have epilepsy, but instead non-epileptic seizures. Video electroencephalography monitoring (VEM) is the gold standard for differentiation between epileptic and non-epileptic seizures. The purpose of this study was to investigate the effectiveness of VEM as a diagnostic tool. MATERIAL AND METHODS: In this retrospective study, we have investigated the diagnostic outcome of 155 in patients undergoing VEM at Copenhagen University Hospital (Rigshospitalet) over a two-year period. RESULTS: The study showed that VEM revealed a diagnosis in 80%. Epilepsy was diagnosed in 38% and epilepsy was rejected in 43% of cases. In the remaining 20% of cases, epilepsy could not be excluded. Among patients who were referred in antiepileptic drug treatment, 29% did not have epilepsy. The highest diagnostic yield was obtained when patients had seizures with ictal electroencephalography paroxysms during VEM. CONCLUSION: Several patients without epilepsy are treated as if they had epilepsy. VEM is a costly method, but with a large diagnostic yield and should therefore be used when there is doubt about the diagnosis in patients with relatively frequent seizures. The use of VEM is expedient to make the correct diagnosis, optimize medical treatment of patients with epilepsy and to avoid unnecessary treatment in patients without epilepsy. FUNDING: not relevant. TRIAL REGISTRATION: not relevant.


Asunto(s)
Electrocardiografía/métodos , Epilepsia/diagnóstico , Convulsiones/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico , Estudios Retrospectivos , Convulsiones/etiología , Grabación en Video , Adulto Joven
2.
JIMD Rep ; 36: 29-33, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28092090

RESUMEN

BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry. All included patients had a filter paper blood spot sample taken that was subsequently analyzed enzymatically for MPS I, II, and VI. RESULTS: 425 patients were included. 402 patients tested negative in the first test. 23 had inconclusive result whereof 18 was negative in a second test. The remaining five patients had two inconclusive tests each and were referred for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI. DISCUSSION/CONCLUSION: Though our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with monosymptomatic CTS, and that screening is not indicated in this setting.

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