In 2001, a 44-year-old woman began having focal aware seizures characterized by episodic expressive aphasia. MRI at that time did not reveal abnormalities and her seizures were well controlled with AED polytherapy. Repeat MRI 1 year later revealed a small left frontal lobe T2 hyperintensity without enhancement. Her seizures remained well controlled over the next 10 years on a combination of oxcarbazepine, topiramate, and levetiracetam, and she continued working. Approximately 11 years after first lifetime seizure, she experienced an episode of complete expressive aphasia lasting hours and presented to our institution. She was diagnosed with focal status epilepticus, characterized clinically by expressive aphasia. EEG findings were significant for electroclinical seizures with left frontal onset as well as continuous spike/wave activity in the left frontal region (Figure ). MRI at that time showed swelling of the left cortical frontal lobe and operculum gray matter as well as mild left frontal atrophy (Figure ). Initial serum and CSF studies, including cell counts were normal. Further testing was notable for the following negative studies: paraneoplastic and autoimmune encephalitis antibody (NMDA-R, ANNA-1, ANNA-2, ANNA-3, AGNA-1, PCA-1, PCA-2, PCA-Tr, Amphiphysin, CRMP-5, VGKC, GAD), 14-3-3, serum lyme, NYS viral encephalitis panel, ANA, ACE. The patient was acutely treated with phenobarbital, which abolished the status epilepticus. IVIG was also initiated over this hospitalization for the possibility of an autoimmune etiology without specific consideration of RE. She was discharged from the hospital on four AEDs—oxcarbazepine, topiramate, levetiracetam, and phenobarbital. Subsequent clinical improvement over the next several months, initially thought to be related to phenobarbital, waned, leading to the conclusion that IVIG had been the ameliorative therapy. The patient began monthly IVIG infusions to supplement AED pharmacotherapy and experienced improvement in expressive aphasia and a decline in seizure frequency.\nApproximately 6 months later, the semiology of the patient’s seizure again evolved to include right rhythmic facial twitching in addition to expressive aphasia. Less than 1 year from prior episode of status epilepticus, she was re-admitted to the EMU. There was no evidence of electrographic seizures, but the presence of left frontal spike/wave complexes persisted as did episodes of right facial twitching and mutism. Ictal SPECT imaging revealed a focus of increased uptake in the left anterior frontal lobe, relative to the right frontal lobe, correlating with MRI abnormality. Over the following months, patient’s aphasia became nearly constant and semiology again began to involve the right arm. Repeat MR imaging now very clearly showed focal atrophy in the left frontal lobe, particularly involving the frontal pole, as well as the left temporal lobe (Figure ). This finding coupled with the progressive nature of the patient’s focal epilepsy solidified the diagnosis of RE. Monthly IVIG treatments were continued, topiramate does was augmented, and PRN lorazepam was added to the patient’s AED regimen. Unfortunately, the patient continued to have brief focal seizures several times per week and her mild expressive aphasia was static. In September 2016, approximately 3 years after her presentation to our institution and 15 years from first seizure, she began treatment with Rituximab. While her overall seizure frequency appears to have improved, she continues to have weekly focal seizures, a static mild expressive aphasia and remains on four AEDs.
An 8 year-old girl presented with history of repeated episodes of clonic seizures involving right upper and lower limbs and each episode lasting for 2–5 minutes with prolonged postictal state. The episodes didn't involve a sudden loss of consciousness but she had a bladder incontinence. The first episode started at the age of 7 years with rapid increase in seizure activity followed by decrease in frequency 10–15 episodes in the day with slurring of speech, cognitive delay and abnormal gait. She was born as a second twin and cried immediately after birth with normal APGAR score. No history of neonatal seizures. She had no history of blood transfusions, neurosurgery, traumatic head injury, proven allergies and family history of epilepsy. An initial routine electroencephalogram (EEG) was normal. Magnetic resonance imaging (MRI) was normal. The patient put on Oxcarbazepine and then, Valproate Sodium and Clonazepam were added gradually.\nOne month ago, she suffered from paraesthesia and twitching of right arm.\nShe admitted to our neurology department when the patient experienced an exacerbation of focal status epilepticus and generalized seizures.\nHer seizures could not be controlled with antiepileptic drugs alone.\nNeurologic exam at admission showed constant twitching of the right hand and intermittent stiffening of the right leg and pelvic. She had a right hemiparesis and muscle power Medical Research Council (MRC) grade 3 on the right upper and lower limb, but a full 5 on the left upper and lower limbs.\nShe also had exaggerated tendon reflexes on the right side. She showed severe global developmental delay.\nThere were no signs of meningeal irritation, and cranial nerves were intact. Cerebrospinal fluid analysis was normal, (PCR) for Herpes Simplex Virus, EBV, measles, Rubella and CMV appeared to be negative.\nEEG showed slow activity with focal left frontal biphasic spikes paroxysmal discharges ().\nMRI brain T1 revealed left hemispheric atrophy and in the left insular cortex ().\nMRI T2 axial revealed atrophy in left Caudate and putamen nuclei ().\nA diagnosis of RE was suspected.\nShe was given Immunotherapy with IVIG for one dose followed by IV. methyl prednisolone 30mg/kg for 5 days. Followed by oral prednisolone for 28 days. She slightly improved.\nThe parents however noticed an increase in the frequency of her seizure to three times a day every day. She is currently on outpatient review, and a more aggressive treatment (including surgical intervention) is being considered.