Misdiagnosis of paroxysmal non-epileptic disorders in children

Abstract

Paroxysmal non-epileptic disorders (PNEDs) are often misdiagnosed as epilepsy. This study describes cases of misdiagnosed PNEDs. In addition, it identifies aspects of the clinical assessment that may assist in reaching a correct diagnosis. A total of 100 patients (58 boys and 42 girls) were included. Misdiagnosed PNEDs included: breath-holding spells (37%); excessive jitteriness and/or atypical hyperekplexia (15%); vasovagal attack (12%); psychogenic seizures (11%); gastroesophageal reflux (10%); hyperekplexia (5%); masturbation (3%); head nodding (2%); tic (2%); paroxysmal torticollis (1%); migraine (1%); vitamin B12 deficiency-induced tremor (1%). Forty-four (44%) patients were misdiagnosed with epilepsy and parents presented for a second opinion, while 56 (56%) patients were referred with a suspicion of epilepsy. Forty-two (42%) patients received antiepileptic treatment before presenting to us. History emerged as the most helpful diagnostic tool. Examination was only useful in hyperekplexia, while mobile phone video camera emerged as a potentially useful but underutilized diagnostic tool and were present in 85% of the patients. PNEDs are often misdiagnosed as epilepsy. Elements that were helpful in making a correct diagnosis included history, examination, and witnessing the attack in clinic or on mobile phones.