Treatment and outcome

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I counseled her mother on the typical benign prognosis of absence epilepsy, and started the patient on valproate. Her spells improved for a few weeks, but then relapsed. She was having three to 12 events a day. Ethosuximide was added; she again improved for a few weeks but then regressed again. She developed a sleep disturbance with restlessness, squirming and hallucinations. Ethosuximide was discontinued and her symptoms improved. A few months later, she was having dozens of seizures a day. A repeat trial of ethosuximide improved her symptoms but was associated with stomach upset and vomiting. She developed behavioral problems with uncharacteristically whiny and sometimes aggressive behavior. This improved when valproate was stopped and clonazepam was added. However, clonazepam was associated with behavioral side effects including crying and mood swings, and it was discontinued after a brief trial. She was having up to 20 absence spells a day.

A trial of amantadine improved her symptoms for 1 week, followed by yet another relapse. All medications were discontinued, and she improved, although she continued to have 20 seizures a day lasting 10-30 seconds. A repeat EEG revealed ongoing 3-Hz spike-and-wave generalized epileptiform discharges, but also some less frequent independent right and left parietal spike-wave discharges. A trial of phenytoin was not beneficial. This was followed by a trial of carbamazepine, which did not help. She was having up to 50 events per day, and was starting school.

Felbamate was initiated in September 1993, at a time when she was having 50 seizures a day. It did not help, and she was referred to a pediatric epileptologist at a major university. Review of several EEGs in the past confirmed typical changes for absence epilepsy. A trial of methsuximide was initiated and decreased the seizures frequency from 30 a day to 10 a day. This was the best seizure control that had been achieved in some time. Her family moved to a small town and she adjusted to her new school setting. Her seizures increased to 100 per day, and methsuximide was discontinued. She began having trouble in school. A trial of lamotrigine was discussed, but her mother was understandably hesitant to try a ninth medication. J continued to worsen and was having hundreds of events a day, associated with regression in school and occasional urinary incontinence.

In desperation, her mother asked about the ketogenic diet, a therapy that had

Drugs Did Not Work In A Little Girl With Absence Seizures recently been resurrected following some attention in the national media. After some discussion, and shortly after the ketogenic diet became available at our center, J was hospitalized and underwent fasting. She was placed on the ketogenic diet at a 4:1 ratio of fat to carbohydrate and protein calories. Her seizures immediately decreased to only a few per day; she had a slight exacerbation associated with an episode of otitis media and fever. She then became seizure-free for the first time in years. As weeks went by, her cognitive abilities improved. Her mother observed that the changes were 'like taking a veil off of her brain'. She exhibited improved abilities in reading and mathematics in school.

The diet was not without side effects. J was observed to be hungry, tired and moody. She suffered a bout of renal stones after being on the diet for a little over 1 year. However, she continued to make vast progress in school, and became a straight A student. She won the 'most improved reader award'.

After being seizure-free for 20 months, the ratio of her ketogenic diet was gradually decreased and a weaning process was started. After being seizure-free for 2 years, the diet was discontinued. A follow-up EEG was normal. She has remained seizure-free since that time.

J and her family were deservedly given the 'winning kid with epilepsy award' from our local epilepsy foundation. Her mother shared this compelling story with a large audience.

Absence epilepsy of childhood is typically a benign condition that responds well to medication in more than 90 % of cases. When a truly refractory case of absence epilepsy is encountered, effective treatment options are limited. Since this experience, I have become aware of at least one case of refractory absence epilepsy that responded well to a vagal nerve stimulator.

Although it is not possible to prove that the ketogenic diet was clearly responsible for curing this case of epilepsy, I cannot be convinced that her drastic improvement was mere coincidence after treating this child for more than 4 years with eight different anticonvulsant medications.

What did I learn from this case?

I once again learned a lesson that I had been taught in medical school and by my prior practice experience: the importance of remaining open-minded to unconventional therapies when standard therapy is clearly unsuccessful. Because the vast majority of cases of absence epilepsy are responsive to medication, I persisted with medication trials for a prolonged period, even though the patient had nothing but a succession of side effects to show for undergoing those treatments.

How did this case alter my approach to the care and treatment of my epilepsy patients?

I am happier now about thinking of non-medication options when a reasonable trial of at least a few appropriate medications has failed. Those options include epilepsy surgery, the ketogenic diet and the vagal nerve stimulator. I am haunted by the thought of how much sooner Justine would have improved had the ketogenic diet been tried earlier, and even more so by thoughts of other patients who have not been reached by non-medication therapies that could prove to be highly beneficial for their epilepsy.

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