Diagnostic approach

As always, the key to the diagnosis lies in the history! This young man experienced vigorous myoclonic jerks while completely awake Myoclonic seizures have a propensity to occur in the early morning hours In combination with a generalized tonic-clonic seizure, the most likely diagnosis is JME Typical EEG findings confirm this suspicion, that is, 4-6 Hz spike-wave and polyspike-wave complexes, occurring spontaneously out of an otherwise normal background (see Figure 32 1) In approximately 30% of patients, these discharges are triggered by photic stimulation, and some will appear after provocation by sleep deprivation or drinking caf-feinated beverages During a myoclonic seizure, the myoclonic jerk corresponds to a polyspike-wave discharge In contrast, other myoclonic jerks, for example, when an individual is drifting off to sleep (hypnagogic myoclonic jerk or sleep myoclonus) or when startled, are not accompanied by epileptiform activity. Neuroimaging in a typical case is not required, because the brain is structurally normal in these patients However, many physicians will obtain a magnetic resonance imaging (MRI) of the brain to rule out other reasons for seizures that may mirror the presentation It should be noted that the EEG of JME patients may exhibit focal features, thus suggesting a structural anormality or lesion in the brain A toxicology/alcohol screen should be done, if there is a suspicion that drugs might be involved

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