Galtrey Clare M, Levee Viva, Arevalo Jan, Wren Damian
Department of Neurology, Frimley Health NHS Foundation Trust, Frimley, UK
Department of Neurology, Frimley Health NHS Foundation Trust, Frimley, UK.
Pract Neurol. 2019 Feb;19(1):56-61. doi: 10.1136/practneurol-2018-001959. Epub 2018 Oct 15.
The diagnosis of epilepsy is incorrect in up to 20% of cases so should be revisited if attacks are not responding to treatment. We present a case of long QT syndrome that remained undiagnosed in the epilepsy clinic for 15 years until a near-fatal arrhythmia revealed the diagnosis and allowed effective treatment of her attacks. We hope this near miss raises awareness of long QT syndrome as a potentially fatal, rare but treatable condition that neurologists must consider in people with a label of refractory epilepsy. We provide practical pointers to increase the chance of early diagnosis and explore the impact of a late diagnosis for the patient and her family.
高达20%的癫痫病例诊断有误，因此如果发作对治疗无反应，应重新评估诊断。我们报告一例长QT综合征病例，该病例在癫痫门诊15年未被诊断出来，直到一次近乎致命的心律失常才揭示了诊断结果，并使她的发作得到有效治疗。我们希望这次险些发生的严重后果能提高人们对长QT综合征的认识，这是一种潜在致命、罕见但可治疗的疾病，神经科医生在诊断为难治性癫痫的患者中必须考虑到这种疾病。我们提供实用的建议以增加早期诊断的机会，并探讨延迟诊断对患者及其家庭的影响。
