Adventures of Benign Myoclonic Epilepsy in Infancy

Right before going in for her MRI. She was hungry and exhausted

In her hospital issued jail cell (I mean crib)

We have had a tiring 3 days trying to figure out exactly what Keira's "shuddering attacks" (as we described them) were.  When they first started happening during a viral illness around June 5th, they looked just like that. A shudder because of being startled. I decided to ignore the symptom in hopes that it would go away. People would comment here and there and it was in the back of my brain that there was something more going on, but I did not tell a soul I felt there could be something very wrong. I mentioned that I was worried to a few people, but I did not reveal the degree of my worrying. Seth even mentioned that he thought it was a seizure, but I tried to shrug it off, ignore it and put that worry in the outer most part of my head where it was hard to reach.  I did not want to talk about yet another illness this Robie family might potentially be handed to deal with. I shut down communications via Facebook so I would not talk about it to the masses. I felt that maybe I was being irrational in my thinking. I mean really, how many times can lightening strike the same family within a 3 year span? We had already filled one full hand. Could we really be starting to work on the second?

The greatest worry about the shuddering attacks, which we now know are seizures, was that it could be infantile spasms.  Infantile spasms can cause major brain damage leading to significant developmental delay and permanent intellectual impairment.  The prognosis is not good.  I did not think that this was what was wrong with Keira because she is on track and even ahead in some developmental milestones.  Most infantile spasm patients are delayed at onset. However, it was very hard to find other forms of seizures written about on the Internet because infantile spasms are the most frequent cause of them in children her age. I did finally find Benign Myoclonic Epilepsy, but you don't know for sure until you have an EEG and an MRI.

As of Sunday night,early Monday morning, I decided it was time to get it checked out.  The seizures were happening up to 80-100 times a day, came in three's and her eyes were rolling up in her head. They were clearly getting worse. I did not count them before then in my attempts to convince myself (which I really never did) that they were simple shuddering attacks. I got one of them on video and called our Pediatrician on Monday. We got an appointment on Tuesday. The Pediatrician saw them multiple times during the appointment and talked to the Neurologist right away while we were in the office. They scheduled the EEG for the next day (Wednesday), which clearly showed the myoclonic pattern.(A huge relief for us) We were given the diagnosis and sent to the hospital for observation, to start medication (Keppra) and get the MRI. Once we had the MRI done and they did not find any brain abnormalities the diagnosis would be set in stone.  Thankfully the MRI was unremarkable.

We are happy with the diagnosis. Of course, we would rather her not have this or take medication, but in the grand scheme of things it is minor.  We are on to the second hand and fully expect to add more fingers to it. We do hope that the pace of filling our hands will slow down. I still worry about her development and about the seizures, but I would be worrying about her development anyway. I was right on top of it before and will continue to do so. Keira is happy, otherwise healthy and the easiest baby I have ever known. A huge blessing to our family. :)

Here are pictures from our adventures.  She was quite a ham in the hospital and all the nurses/doctors were drooling over her. They could not get over how good she was.

http://www.flickr.com/photos/s2k3robie/sets/72157624385955349/

This form of Epiliepsy is written about in detail on the website: http://emedicine.medscape.com/article/1181649-overview

"Benign Myoclonic Epilepsy of Infancy
Of all the myoclonic epilepsies, benign myoclonic epilepsy of infancy (also known as benign infantile myoclonic epilepsy) is distinguished by its appearance early in life and its favorable prognosis. This belongs to the group of primary generalized epilepsies and is probably the equivalent of juvenile myoclonic epilepsy. Since its first description by Dravet and Bureau in 1981, many other cases have been described.

Epidemiology

In 2005, Dravet and Bureau made an updated review of benign myoclonic epilepsy of infancy, in which they mention 120 cases.5 The syndrome occurs in 7% of children with myoclonus and 2% of epileptic children aged 1-36 months; 0.39 of epilepsies that begin in the first 6 years of life are benign myoclonic epilepsy of infancy. The male-to-female ratio is about 2:1. Age of onset is usually between 4 months and 3 years.5 However, as reported by Rossi et al in 1997, later onset up to 4 years and 8 months is possible.6

Genetics

The genetics is unknown. In 78 cases, family history of febrile seizures was present in 17% and history of epilepsy was noted in 27%.

Clinical symptoms

Generalized myoclonic seizures occur in otherwise healthy infants, some of whom (about 25%) have a history of isolated febrile convulsions. Myoclonia involves the axis of the body and limbs, causing head drops, upward and/or outward movements of the upper limbs with flexing in the lower limbs, and possible rolling of the eyes. Seizures vary in intensity from severe forms (eg, causing the child to fall suddenly) to mild forms (eg, eye closure). Episodes are brief, lasting 1-3 seconds. Less commonly, episodes may be repeated up to 10 seconds, especially in older children. They do not occur in clusters and are not favored by awakening, but rather by drowsiness. Alertness may be slightly reduced with repeated seizures. The seizures are not associated with other seizure types such as absence or tonic seizures.

In a subgroup of patients, myoclonic jerks may be triggered by tactile or sudden acoustic stimuli, referred to as reflex benign myoclonic epilepsy of infancy. These may or may not be associated with spontaneous jerking. Although some authors have tried to distinguish between reflex benign myoclonic epilepsy of infancy and the classic form, Dravet and Bureau did not think such a distinction is necessary in their 1996 article.

Electroencephalography

Findings on interictal waking EEG usually are normal for age. Spontaneous spike-wave (SW) discharges are rare. Almost all SW and polyspike-wave (PSW) discharges have some form of clinical expression. Drowsiness and early stages of sleep activate generalized SW. During light sleep, they almost always are accompanied by myoclonus. The discharges gradually disappear during slow-wave sleep, as does the myoclonus. Clinical and EEG photosensitivity is present in one third of patients. Ictal EEG recordings show generalized fast SW or PSW accompanying the myoclonus. Darra et al reported on 22 patients with benign myoclonic epilepsy of infancy. They reported that the ictal EEG discharges were often focal, limited to the rolandic and vertex regions and concluded that seizures are rarely truly generalized.7

Treatment

Seizures usually are controlled easily by sodium valproate monotherapy. If seizures are not controlled, other proposed medications include benzodiazepines (ie, clobazam, nitrazepam, clonazepam) or ethosuximide. Phenobarbital has also been tried.

Evolution and prognosis

The seizure outcome is favorable. The myoclonias have disappeared in all reported patients who were monitored. In most patients, they lasted less than a year, with the longest duration up to 6 years and 4 months. On long-term follow-up, 18% of patients had other seizure types, including some with rare generalized tonic-clonic seizures.

Clinical features as well as the associated EEG findings help differentiate benign myoclonic epilepsy of infancy from both nonepileptic conditions and other epileptic syndromes.
The following are nonepileptic conditions that may be mistaken for benign myoclonic epilepsy of infancy:
•Physiologic myoclonus

•Benign nonepileptic myoclonus

•Hyperekplexia (startle disease)

•Shuddering attacks

Epileptic syndromes that may resemble benign myoclonic epilepsy of infancy include the following:

•West syndrome

•Severe myoclonic epilepsy in infancy

•Early onset Lennox-Gastaut syndrome

•Myoclonic-astatic epilepsy (Doose syndrome)

Benign Partial Epilepsy With Complex Partial Seizures

Described by Watanabe et al in 1987 , complex partial seizures often occur in clusters and are manifested in the following ways:

•Arrested motion

•Staring spells

•Decreased responsiveness

•Automatisms with mild convulsive movements

Features of benign partial epilepsy with complex partial seizures include the following:

•Family history of benign seizures (often)

•Normal development prior to onset

•Onset at 3-10 months usually (ranges to 20 mo)

•No underlying disorders

•Normal findings on interictal EEGs

•Good response to treatment

•Normal developmental outcome"