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BackgroundEpileptic seizures can be difficult to distinguish from other etiologies that cause cerebral hypoxia, especially cardiac diseases. Long QT syndrome (LQTS), especially LQTS type 2 (LQT2), frequently masquerades as seizures because of the transient cerebral hypoxia caused by ventricular arrhythmia. The high rate of sudden death in LQTS highlights the importance of accurate and early diagnosis; correct diagnosis of LQTS also prevents inappropriate treatment with anti-epileptic drugs (AEDs).Case presentationWe report a case of congenital LQT2 with potassium voltage-gated channel subfamily H member 2 gene (KCNH2) mutation misdiagnosed as refractory epilepsy and treated with various AEDs for 22 years. The possibility of cardiac arrhythmia was suspected after the patient presented to the emergency room and the electrocardiograph (ECG) monitor showed paroxysmal ventricular tachycardia during attacks. Atypical seizure like attacks with prodromal uncomfortable chest sensation and palpitation, triggered by auditory stimulation, and typical ventricular tachycardia monitored by ECG raised suspicion for LQT2, which was confirmed by exome sequencing and epileptic seizure was ruled out by 24-h EEG monitoring. Although the patient rejected implantation of an implantable cardioverter defibrillator, β blocker was given and the syncope only attacked 1-2 per year when there was an incentive during the 5 years follow up.ConclusionsOur case illustrates how long LQTS can masquerade convincingly as epilepsy and can be treated wrongly with AEDs, putting the patient at high risk of sudden cardiac death. Careful ECG evaluation is recommend for both patients with first seizure and those with refractory epilepsy.

Background: SMASH‐U is a systematic aetiological classification system for intracerebral haemorrhage (ICH) proven to be a predictor of post‐ICH haematoma expansion and mortality. However, its role in predicting functional outcome remains elusive. Therefore, we aimed to investigate whether SMASH‐U is associated with long‐term functional outcome after ICH and improves the accuracy of prediction when added to max‐ICH score. Methods: Consecutive acute ICH patients from 2012 to 2018 from the neurology department of Tongji Hospital were enrolled. ICH aetiology was classified according to the SMASH‐U system. The association of SMASH‐U with 12‐month functional outcome after ICH and the predictive value were evaluated. Results: Of 1938 ICH patients, the aetiology of 1295 (66.8%) patients were classified as hypertension, followed by amyloid angiopathy (n = 250, 12.9%), undetermined (n = 159, 8.2%), structural lesions (n = 149, 7.7%), systemic disease (n = 74, 3.8%) and medication (n = 11, 0.6%). The baseline characteristics were different among the six aetiologies. In multivariate analysis, SMASH‐U was proven to be a predictor of 12‐month unfavourable functional outcome. When adding the SMASH‐U system, the predictive performance of max‐ICH score was improved (area under the receiver operating characteristic curve from 0.802 to 0.812, p = 0.010) and the predictive accuracy was enhanced (integrated discrimination improvement [IDI]: 1.60%, p < 0.001; continuous net reclassification improvement [NRI]: 28.16%, p < 0.001; categorical NRI: 3.34%, p = 0.004). Conclusions: SMASH‐U predicted long‐term unfavourable functional outcomes after acute ICH and improved the accuracy of prediction when added to max‐ICH score. Integrating the aetiology to a score model to predict the post‐ICH outcome may be meaningful and worthy of further exploration. [ABSTRACT FROM AUTHOR]