Aims: To determine the proportion of children admitted with difficult to treat paroxysmal events to a tertiary epilepsy centre who did not have epilepsy. Methods: In an observational retrospective study, all case notes of 223 children admitted in 1997 were examined. The referral was made from the local paediatric department in 51% of cases, other departments in 27%, and from general or specialist practitioners in 22%. Doubt regarding the diagnosis of epilepsy was expressed in the referral note in 17%. On admission, 86% were on antiepileptic drug treatment. During admission all children were subjected to a comprehensive intensive observation and 62% had EEG monitoring. Results: In total, 39% (87/223) were found not to have epilepsy. In 30% of children (55/184) referred without any doubts about the epilepsy diagnosis, the diagnosis was disproved. Of the 159 children admitted for the first time, 75 (47%) were discharged with a diagnosis of non-epileptic seizures. Of 125 children admitted for the first time with no doubts about the diagnosis of epilepsy, 44 (35%) did not have epilepsy. Staring episodes were the most frequently encountered non-epileptic paroxysmal event. Psychogenic non-epileptic seizures were found in 12 children. A total of 34 (15%) had their medication tapered off; a further 22 (10%) had tapered off medication before admission. Conclusion: The present study supports the view that misdiagnosis of epilepsy is common. The treating physician should be cautious in diagnosis, especially of staring episodes. A diagnostic re-evaluation should be undertaken in difficult cases with continuing paroxysmal events in order to avoid unnecessary drug treatment and restrictions on the child's lifestyle.
SUMMARY An hypothesis of increased endorphinergic activity has been proposed to account for the characteristic symptoms of Rett syndrome. Cerebrospinal fluid samples from eight girls with Rett syndrome were analysed for β‐endorphin (β‐EP) immunoactivity and compared with samples from a control group of 15 children with acute leukaemia in remission. Severity of symptoms was not found to be related to β‐EP level. A group of early‐treated adolescents with phenylketonuria had β‐EP levels similar to the Rett syndrome patients, but no symptoms resembling theirs. Therefore it is unlikely that increased levels of β‐EP are of primary pathogenetic significance. The conflicting findings of many earlier reports may be a result of differences between control groups. RÉSUMÉ β‐endorphine dans le liquide céphalo‐rachidien au cours du syndrome de Rett L'hypothèse d'une activité endorphinergique accrue a été proposée pour rendre compte des symptǒmes caractéristiques du syndrome de Rett. Des échantillons de liquide céphalo‐rachidien provenant de huit filles avec syndrome de Rett ont été analysés sur l'immuno‐activitt β‐endorphine (β‐EP) et comparés avec des échantillons provenant d'un groupe contrǒle de 15 enfants atteints de leucémie aigüe en rémission. La gravité des symptǒmes n'a pas été troubée reliée au taux β‐EP. Un groupe d'adolescents phénylcétonuriques traités précocement avait des taux de β‐EP semblables à ceux des enfants atteints de syndrome de Rett, sans signes comparables. Il est donc peu vraisemblable que les taux élevés de β‐EP aient une signification pathogénique primaire. Les données contraires de nombreaux articles plus anciens pourraient provenir de differences entre les groupes contrǒles. β‐Endorphin im Liquor beim Rett Syndrom Es ist die Hypothese geäußert worden, daß die charakteristischen Symptome beim Rett Syndrom durch eine erhöhte Endorphinaktivität bedingt sind. Von acht Mädchen mit Rett Syndrom wurden Liquorproben auf β‐Endorphin (β‐ED) Immunoaktivität untersucht und rnit Proben einer Kontrollgruppe von 15 Kindern rnit akuter Leukäie im Remissionsstadium verglichen. Der Schweregrad der Symptome korrelierte nicht mit den β‐ED Spiegeln. Eine Gruppe von Erwachsenen mit früh behandelter Phenylketonurie hatte ähnliche β‐ED Spiegel wie die Patienten mit Rett Syndrom, aber keine vergleichbaren Symptome. Daher ist es unwahrscheinlich, daß erhöhte β‐ED Spiegel eine pathogenetische Bedeutung haben. Die widersprüchlichen Befunde vieler früherer Berichte könnten durch Unterschiede bei den Kontrollgruppen bedingt sein. β‐endorfina en el liquido‐céfalo‐raquídeo en el sindrome de Rett Se ha propuesto una hipótesis sobre el sumento de la actividad endorfinérgica para explicar los sintomas característicos del síndrome de Rett. Se analizaron muestras del líquido‐céfalo‐raquídeo de nueve niñas con sindrome de Rett investigado la inmunoactividad de la β‐endorfina (β‐EF) y se compararon con las muestras de un grupo control de 15 niños con leucemia aguda en remisión...
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