ABSTRACT
Case Presentation ...................................................................................................225 Differential Diagnosis ............................................................................................226 Diagnostic Approach .............................................................................................227 Treatment Strategy .................................................................................................228 Long-Term Outcome ..............................................................................................228 Pathophysiology/Neurobiology of Disease ............................................................228 Clinical Pearls ........................................................................................................ 229 Suggested Reading ................................................................................................. 229
A right-handed boy experienced his rst seizure at 4 years of age while playing with his mother at home. The mother noted leftward pulling of his face, followed by an arrest of behavior, staring, chewing automatisms, drooling, and unresponsiveness for 5 minutes. No postictal weakness was observed despite some transient lethargy. He was afebrile and without any symptoms or signs of infection. Birth history and early development were normal. The family denied any prior history of febrile seizures, meningitis/encephalitis, traumatic brain injury, unexplained loss of consciousness, or family history of epilepsy. His neurological examination was normal for age. Interictal electroencephalogram (EEG) showed infrequent R frontoparietal epileptiform discharges, and his magnetic resonance imaging (MRI) was normal. He was placed on oxcarbazepine therapy, but his complex partial seizures became more frequent and severe. Consequently, two other antiepileptic medications were tried over the next 3 months without added benet. Semiology had progressed to include secondary generalization, and convulsions became frequent. All seizures were now preceded by an aura of left perioral or hemibody pain. Valproic acid (VPA) was effective in controlling complex partial seizures, but he continued to experience 1-2 typical auras per week. Additionally, he displayed a mild, progressive, left hemiparesis and some neurocognitive decline. Nearly 4 months after seizure onset, a repeat MRI showed new hypointense T1 and hyperintense T2 signals along
In the early stages, RE can begin with partial seizures with focal epileptiform activity on the EEG, whereas the MRI may be normal. The initially normal MRI differentiates this syndrome from other symptomatic partial epilepsies such as focal cortical dysplasia, cysticercosis, malignancies, or cortical injury-related etiologies. RE lacks the specic association of sleep-evoked clinical and EEG features, as well as the surface dipole seen in idiopathic partial epilepsy of childhood (Rolandic) epilepsy. The early presentation of RE consists of partial seizures without the encephalopathy that one would associate with acute encephalitis.
