Title : A rare case of Epilepsia Partialis Continua in an adult patient with MIRAS
Abstract:
38-year-old female with Mitochondrial Recessive Ataxia Syndrome (MIRAS, homozygous POLG A467T mutation), diagnosed in her late twenties, was transferred to us from another hospital. She was intubated and sedated for suspected status epilepticus. Her condition had led to progressive gait instability, muscle weakness, ophthalmoplegia, peripheral neuropathy, and wheelchair dependence. She was diagnosed with epilepsy one year prior, managed with Levetiracetam. After missing doses, she experienced a generalized seizure, became unresponsive, and was intubated. Initial EEG showed generalized rhythmic delta activity (GRDA), and her sedation was reduced. After 12-15 hours, she exhibited involuntary jerking movements, head turning, and became alert, but the events worsened with tachycardia, desaturation, and urinary incontinence. EEG remained unchanged with persistent GRDA. MRI was normal, and no active infections were detected. Given the clinical presentation, refractory EPC/focal motor seizures from a deeper focus were suspected. Despite the negative EEG, a propofol drip was started for suppression. Levetiracetam was switched to Brivaracetam, Lacosamide was increased, and Gabapentin and scheduled Lorazepam were added. There were limitations on antiseizure medications that could be utilized due to her POLG mutation, and risk of liver failure with agents such as Valproic acid, phenobarbital, etc. She was started on multivitamins and folinic acid. Several goals of care conversations were had with the patient's family due to the refractory nature of her disease. After 48 hours of suppression, sedation was weaned, and she had significant reduction in her seizure burden. She was extubated successfully and subsequently discharged home with conservative measures. She continues to experience fatigue and cognitive side effects in few weeks after her seizure control, but is able to support her own nutrition, and communicate effectively with her doting family.
