Case Study

A normal 12 year-old girl was diagnosed with “petit mal” seizures at 2 1/2 years of age but told that she would probably “grow out of it”. Later, she was diagnosed with “tic” when dramatic head and eye retroflexion and “twitching” of her eyelids occurred. Eyelid fluttering would occur with transient eye closure or brief light exposure but frank ocular and eyelid “jerking” was seen if she continued to be exposed to sunlight. Several seconds of delayed responsiveness was seen with more prolonged spells. Brain MRI was normal and an EEG was abnormal due to “3-Hz spike-wave” (see below). She became resistant to multiple AEDs including ethosuximide, valproate, and lamotrigine. Spells interrupted her activities multiple times daily. Myoclonus and GTC seizures were absent.

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Figure: (A) EEG demonstrating generalized symmetrical bifrontal 3-Hz spike-and-waves during an AS (note the slight left asymmetry at onset). (B) Demonstrates her self-limited photoparoxysmal response. Recording parameters: longitudinal bipolar montage; sensitivity 7 uv; filter settings of 1-70.

How did Jeavon's Syndrome play a role?

Eyelid Myoclonia with Absence
A spectrum of absence seizures (AS) is associated with generalized, symmetric, bifrontal pre-dominant, 3 Hz spike-and-waves on EEG (figure A). Prominent eyelid flutter, EEG, and photosensitivity suggests Jeavons syndrome (JS). JS is characterized by eyelid myoclonia with and without AS1. A reflex epilepsy, there is prominent photosensitivity (figure B) and activation of 3-Hz GSW on EEG during eyelid closure. JS is typically occurs in girls who are otherwise normal and represents a unique type of genetic epilepsy with AS. It peaks in childhood and may have an onset early on in life before childhood onset absence epilepsy and is typically a life-long condition. Video-EEG monitoring is essential for a definitive diagnosis, to quantify seizures, and confirm photosensitivity. EEG shows 3-Hz or faster GSW that may contain polyspikes within the bursts upon eye closure. Occipital abnormalities were not encountered in our patient though has focal initiation of the thalamo-cortical system in some patients has been suggested2. Treatment of the eyelid myoclonia is difficult with drug-resistance common.

References

  1. Panayiotopoulos CP. Syndromes of idiopathic generalized epilepsies not recognized by the International League Against Epilepsy. Epilepsia 2005;46(suppl 9):57-66.
  2. Viravan S, Go C, Ochi A, Akiyama T, Snead III OC, Otsubo H. Jeavons syndrome existing as occipital cortex initiating generalized epilepsy. Epilepsia 2011;52(7):1273-1279.
Authored By: 
William O. Tatum DO
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Authored Date: 
08/2011