The patient is a 27-year-old, left-hand-dominant woman, previously published by Riviere et al. as LP98-085 and by Verloes et al. as B2. She has a medical history significant for BWCS with associated intellectual delay, right cochlear agenesis causing hearing impairment, and bilateral colobomata causing visual impairment. She has behavioral issues with irritability, aggression, and defiance. She has an ACTB mutation of c.34A > G.
She was born at term, had a normal delivery without complications, but was hypotonic. She was delayed in gross and fine motor skills, as well as speech. She began having seizures at the age of two years. She has three seizure types. With the first type she has behavior arrest, staring, and unresponsiveness without preceding aura. These episodes last between a few seconds to a minute. She has post-ictal exhaustion and confusion. The second most frequent type of seizure involves a sudden tonic flexion of the head and neck with abduction of the arms; there is sometimes tonic extension of the lower limbs. There can be brief jerks of the upper limbs. She falls if she is standing when these seizures occur. These episodes last 5-20 s. She had clusters of up to 60 of these seizures per day. The last seizure type is generalized tonic-clonic. She has approximately one every five years with her last one in 2012.
She currently takes the following antiseizure drugs, which do not completely control her seizures: clobazam 20 mg total daily, lamotrigine 350 mg total daily, perampanel 6 mg daily, phenytoin 300 mg total daily, rufinamide 1600 mg total daily, and valproate 1000 mg total daily. She had three months of seizure freedom after starting rufinamide.
On physical examination she had slow and deliberate speech. She had bilateral ptosis, bilateral epicanthal folds, triangular irides, a coloboma on the right, and an elliptical left pupil. Her visual acuity was 20/200 in both eyes. She had roving eye movements. There was decreased bulk in her hand intrinsic muscles bilaterally. She had bilateral lower limb spasticity. Her muscle strength was normal. Her reflexes were brisk in the lower extremities with no clonus. Coordination testing was normal.
An MRI of the brain showed bilateral cortical dysplasia with fairly symmetric thickening seen in her frontal lobes, precentral gyri, insulae, and parietal lobes (Fig. 1).
She was admitted to our epilepsy monitoring unit for continuous video-EEG. Her EEGs revealed normal background activity at 9-10 Hz with well developed and normal sleep potentials. She had frequent generalized spikes, polyspikes, polyspikes-and-waves, and frequent electrographic seizures during wakefulness without apparent clinical findings (Fig. 2). Her generalized spikes, polyspikes, and polyspikes-and-waves were augmented during sleep (Fig. 2). On continuous monitoring two of her stereotyped, typical generalized tonic seizures were captured. There were also multiple electrographic generalized seizures with generalized epileptic recruiting rhythms. Some of these may have represented absence seizures. In a video-EEG of her typical seizure she can be seen to display sudden tonic bilateral abduction of her arms then elevation of her arms (Video 1).