ESES - Electrical Status Epilepticus of Sleep is a rare form of epilepsy that produces subclinical (unseen) seizures during sleep. This type of epilepsy is characterized by the presence of generalized 1-3 Hz spike-wave discharges occupying 85% or more of the EEG of non-REM sleep. Visible, clinical seizures may also occur, but not necessarily.
The epilepsy: The age at which the first seizure occurs ranges between 2 months (Dalla Bernardina et al 1989) and 12 years (Bureau 1995), with a peak around 4 and 5 years (Tassinari et al 1985). This event can be preceded by either normal psychomotor development or abnormal signs indicating pre-existing encephalopathy, such as hemiparesis, hemiplegia, spastic quadriplegia, diffuse hypotonia, and ataxia.
The seizure types occurring in the disorder can be both partial and generalized. They include unilateral or bilateral clonic seizures, generalized tonic-clonic seizures, absences, partial motor seizures, complex partial seizures or epileptic falls. They may occur during wakefulness or sleep. Tonic seizures, however, never occur.
The first seizure is reported to be nocturnal and of unilateral type in almost one half of the cases reported. At onset, the frequency of seizure attacks is low. At the time of discovery of the typical nocturnal EEG pattern, however, the epileptic seizures frequently change in severity and frequency. Absences and epileptic falls herald the appearance of continuous spikes and waves during slow sleep and seizure frequency increases, both during wakefulness and sleep. About 60% of patients also exhibit several types of seizures (Tassinari et al 1985; 1992).
Neuropsychological deterioration: There is a constant and severe deterioration in neuropsychological functions associated with the disorder, and language capacity can be particularly affected. Patients also may show a profound decrease in intellectual level, poor memory, impaired temporospatial orientation, reduced attention span, hyperkinesis, aggressive behavior, and even psychosis (Jayakar and Seshia 1991; Tassinari et al 1992).
Motor impairment: Motor impairment, in the form of dyspraxia, dystonia, ataxia, or unilateral deficit, has been emphasized as one of the outstanding disturbances occurring in this syndrome (Dalla Bernardina et al 1989; Neville et al 1998).
The best form of diagnosis is an all night sleep study EEG. A diagnosis may be given through a shorter sleep deprived EEG, but and all night study is best.
At this point in time there is no one drug in particular that works in every child. Many times it is very difficult to find a medication that works at all. In our specific case our daughter is responding remarkably well to Kepra. Kepra is generally NOT one of the recommended medications for this type of seizure, but in her case it is working wonderfully.
Because this is a very, very rare form of epilepsy there is very little information out there. Even many neurologists are unfamiliar with the disorder. We were very fortunate to find a doctor who was familiar with and recognized ESES when he saw it.
There is very little information available on the internet that is not highly technical. Here are a few of the most helpful web sites I have found:
We adopted our daughter at 16 months of age from China, aware that she had some fairly significant developmental delays. She was at about a 3 month level developmentally when we got her and could barely hold her own head up. She weighed 15 lbs. She had the blessing of excellent care which made her condition that much more concerning.
We went through the standard battery of tests when we came home and the only things that showed up were obvious problems that we were aware of, 80% blocked ear tubes and bilateral club feet. She didn't even register on the growth chart for weight or height.
A year went by and we made very slow but very steady progress. A three steps forward two steps back kind of pattern, but she would always forage ahead. We sought out a new pediatrician at that time because of our daughter's lack of weight gain. She ate, and ate, and ate but gained hardly anything. She went through several crazy growth spurts where she grew inches in height, but again, gained no weight. Her muscle tone was very low to nonexistent adding to her struggles to move ahead.
The new pediatrician immediately diagnosed her as PDD-NOS (pervasive developmental delay - not otherwise specified) and Failure to Thrive and sent us for new, more in depth testing including a brian MRI and a complete genetic work up. Because we have no family history he felt it was very important to do the genetic testing.
While we were waiting for those tests to come back Lily had her first febrile seizure. My husband and I are both EMT's. We see febrile seizures all the time, and while we were very concerned since it was happening to us, we knew that febrile seizures are very common and not really anything to get worked up about. She went to the hospital and everything checked out fine. She ran a fever for a couple of days and everything went back to normal. Two weeks later another identical seizure, but no fever. Luckily it happened in a hospital (I was in having surgery, go figure?!?!) so my husband immediately rushed her to the ER where they ran a CAT scan and did a full blood work up. Everything was clear, they sent her home on anti-seizure medication.
At this point, however, her pediatrician immediately requested a consult with the Children's Hospital in Milwaukee Neurology Dept. to set up an EEG. Once a child has a seizure that is non-febrile, or a second febrile seizure and EEG is standard protocol.
To make a long story short, they did the EEG and found "abnormal brain activity" while she was sleeping, handed us a prescription and said see you in 9 months. Not pleased is a very mild description of my reaction to their concern for my child.
We immediately requested a 2nd opinion and were referred to the University of Wisconsin Madison.
While we were waiting to get in for the 2nd opinion we did continue to give the anti-seizure medication that was prescribed by the original ER doctor and neurologist.
We immediately, upon starting the medication (Kepra), began to see global improvements in our daughter. Every single aspect of her being started to come alive, that is the only way I can describe it. Cognitive, emotional, developmental, you name it, it improved. Her strength and her weight both started to increase.
We met with the new neurologist last October for the first time. After a 2nd EEG he diagnosed her with ESES. Basically ESES causes conditions in the brain that make it as if the brain never gets to sleep. The body may be sleeping like normal on the outside, but inside, the brain is having an electrical storm of massive proportions. We all know what happens to us as adults if we don't get enough sleep. Try that every night for your whole, short, little life when you are trying to learn and grow and it is a very, very bad outcome.
Thankfully we found this early. Lily is thriving right now and has every chance at a full recovery. She still has a lot of catching up to do, but God gave her a spirit of strength and determination that is unmatched by anyone I have ever met. I just pray He gives me the strength to keep up with her!
Don't ever give up home on finding answers for your child. God loves you and he loves your child.
Contributed by MOM Jennifer Thoreson