Monthly Case

A 16-year-old young man reported almost daily jerks in his arms, that first have occurred 6 months ago. He further said that these sudden lancinating movements originate in his shoulders. These jerks manifest almost always in the early morning in the first 60 min. after awakening. Epileptic seizures with loss or impairment of consciousness were denied. The patient’s mother suffered from a total of five generalized tonic-clonic seizures since the age of 17 years, these seizures also occurred shortly after awakening. She was treated with an antiepileptic drug (AED, name not available) for a couple of years, since age 25 she did not have any more seizures.

The current young man was not treated with an AED so far, as the etiology of his jerks was unclear. We performed longterm video-EEG for 48 h and observed a couple of episodes with the habitual jerks of his upper extremities. While writing on the keyboard of this notebook, he hit the monitor; and while playing chess with his father, he bowled down one of the figures on the board. The corresponding EEG demonstrated generalized discharges with polyspikes followed by a slow wave.

The electroclinical findings with matutinally occurring, lancinating upper extremity myoclonus and polyspike-waves in the EEG allows to make the diagnosis of juvenile myoclonic epilepsy (JME). This form of epilepsy is also termed Janz-Syndrome, as the Berlin-based epileptologist Dieter Janz has worked since the 1950ies extensively on the phenomenology of JME. The condition is characterized by myoclonus of the extremities, some patients additionally suffer from generalized tonic-clonic seizures. JME is a subsyndrome of idiopathic generalized epilepsy (IGE), the etiology is assumed to be based on genetic alterations. Sometimes first-degree family members also suffer from IGE, the mother of the current patient had epilepsy with grand mal on awakening.

Treatment of choice is valproic acid. The patient at first was administered a rather low dose of 600 mg daily. At least in the first week of treatment, the patient was free of myoclonus.

In the last decades, JME patients were thought to require lifelong AED treatment, AED withdrawal was supposed to result almost always in seizure relapse. In the last years, five longterm studies on JME have demonstrated that prognosis in JME is much more favorable than previously thought. In a large number of patients, AED withdrawal beyond the 4th decade of life did not result in seizure recurrence.

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