Eyelid myoclonia with absences (Jeavons syndrome): An unrecognized generalized epileptic syndrome?

Purpose: „Eyelid myoclonia with absences“ (described by Jeavons 1977) is a generalized myoclonic epileptic syndrome with well-defined clinical and EEG characteristics It is probably an underestimated epileptic condition.

The hallmarks of Jeavons syndrome are: Eyelid-myoclonia (EM) with or without absences, eye closure-induced spike-wave-discharges in the EEG and photosensitivity In addition, rare tonic-clonic seizures (TCS) may also occur Onset is during childhood with long lasting duration into adulthood To date there are only few clinical data on record

Patients and methods: Retrospective analysis (year 2008 and 2009) of all patients (age <18 years) diagnosed with any form of idiopathic generalized epilepsy during two years (2008–2009) in our department (N=254). We reviewed medical history, seizure-semiology, Video-EEG, 24h-EEG, medication and outcome.

Results: Six out of 254 patients (2.4%) were diagnosed with Jeavons syndrome (five girls, one boy). Mean age at diagnosis was 9.5 (6–11.5) years. All exhibited EM many years before they were identified as seizures. Two children were wrongly diagnosed as juvenile absence epilepsy. All children showed typical eye closure-induced spike-wave-discharges in the EEG.

The duration of spike-wave-discharges was less than 3s in four patients. In two patients duration was between 3 and 6s and specified as absences. TCS were reported in two patients. Medical treatment was introduced in four patients (n=4) because of occurrence of absences (N=2), TCS in 1 patient (N=1) or association with cortical tremor (N=1).

VPA (N=2) was effective with respect to absences and TCS, not EM. LEV (N=3), showed an effect in two patients with regard to all seizure types.

Conclusion: Jeavons syndrome is a definite epileptic syndrome belonging to the group of generalized epileptic syndromes. Misdiagnoses or late diagnosis are probably frequent.

The accurate definition of generalized epileptic syndromes is crucial with respect to the growing genetic insights in epilepsy. In addition, the correct diagnosis has important therapeutic and prognostic implications.

LEV seems to have the best effect on EM (Striano, 2008) and should be used as first-line medication in these patients.