Epilepsy, Cataplexy Or Dysautonomia???

[jjb]

Hi all. I am new here.

I have a hx is Ehlers Danlos Syndrome & Dysautonomia.

I have a 4 y/o that I am much more concerned about. She has EDS (likely) but she also suffered a stroke during birth that later resulted in seizures.

Her first obvious seizure was a three hour non-convulsive status episode. She went on to have several more episodes like this until she eventually got some control w/ a modified keto diet, LGIT. She is not sz free however.

Her seizures are very difficult to detect. They are primarily autonomic simple partials. A seizure for her consists of sudden nausea, dilated pupils, tachycardia (her hr will jump from 80 up to as high as 180), her o2 drops down into the 80s and occasionally 70s, sometimes she will vomit. These episodes typically only lasts about 15 to 20 seconds, but she tends to cluster. They occur over 4 to 6 weeks. She rarely has status (prolonged seizure) anymore, but when she does ... it is terrifying. There is a ton of epilepsy in my family, but these sz my daughter has are bizarre and extremely frightening. Her last status was in September. I found her laying on her side unable to move or speak. She was able to respond w/ her eyes though and was quite alert & responsive. During this event, her HR jumped to about 170, her o2 dropped slightly and her temp jumped to 102 (an autonomic response NOT a febrile seizure). SO basically she was quite alert and could respond w/ her eyes but completely paralyzed and unable to speak. I have sleep paralysis every now and again, this is what some of her status episodes remind me of. I managed to get some video of that episode.

My daughter sees one of the best epileptologists in the country. I showed her the video, she thought it was seizure but was not sure if it was all seizure and wants a movement disorder specialist to see the vid.

I have contacted one of the leading authorities on Autonomic seizures/status and he says it sounds like aut status, but I think he assumed she was unresponsive.

I have also spoken to aut specialist Dr Peter Novak. When I see him again, he will watch the video, but he questions whether it is even a seizure at all. I am certain at least some of it is, but I am wondering if a true seizure may be triggering something else such as status cataplexicus (prolonged cataplexy) or if it may be triggering some other strange issue.

I am thrilled my daughters seizures have improved, but the fact that her seizures are mostly purely autonomic scares the heck out of me!

I know she likely has dysautonomia ... I worry these autonomic seizures & dysautonomia put her at greater risk for a dangerous arrhythmia.

Anyone out there have any experience w/ autonomic seizures along w/ dysautonomia?

Thanks

[delphicdragon]

Hey jjb-

Welcome to the forum! I too have a history of Ehlers Danlos and POTS. I was originally suspected of having something wrong because I went into what appeared to be long lasting seizures. When the EMTs took my BP on one occasion it was 0. I was having these seizures because my brain wasn't getting enough blood.

Have you tried taking your daughter's BP or blood sugar during the episodes? The seizures may be due to low or high BP, or due to low blood sugar. Have you thought about laying her down and raising her feet to stop the seizure, if it is a blood pressure thing? That worked for me just by gravity getting the blood to the brain, enough to stop the event.

Best of luck and welcome.

Sara

[jjb]

Hey jjb-

Have you tried taking your daughter's BP or blood sugar during the episodes? The seizures may be due to low or high BP, or due to low blood sugar. Have you thought about laying her down and raising her feet to stop the seizure, if it is a blood pressure thing?

Her sugar has been tested during status, it is typically higher than usual (the sz likely causes it to elevate)

I have not checked her BP here at home, but it has been checked a number of times at the ER and by the EMTs. EMTs used to pick her up a couple of times a month for prolonged seizures.

Thankfully she has not needed them in more than two years ... so she has not had her bp checked during an episode since, but if it occurs again, I will try and elevate her feet to see if it helps.

What type of sz did you have?

A question I had for Dr Novak was whether or not autonomic dysfunction can trigger seizures. He said yes, so my next question was can improving autonomic function help to prevent seizures ... he said sometimes. I will do nearly anything to stop these seizures.

[smiles]

I have had seizure type activity since the beginning of my dysautonomia. I do not have true epilepsy. I have multiple forms of autonomic dysfunction. All my convulsive actives are usually due to an autonomic flare up caused by infection, hormone changes, kidney/bladder flushing, eating, having a BM..... I am aware of what is happening to me but can not stop it. Like your daughter, I have minimal ways of responding. It has been very frustrating and misunderstood. I have recently found that an amino acid/neurotransmitter called GABA (found in the health food store and approved by my doc) has helped tremendously in minimizing the amount and severity of my episodes.

I am also on ativan, robinul, salt tabs, and IV fluid to help them. and lots of other meds for other things.

Smiles

[ajw4790]

Hi,

Welcome!

I am not sure how much I have to offer on these topics, but I was curious if they knew the cause of the stroke and if that mattered at all. When I hear stroke and seizures in such a young child I tend to wonder if there is a metabolic/mitochondrial disease component? Things like MERFF/MELAS etc. It sounds like you are seeing a lot of great drs. that know what they are talking about so they will hopefully be able to get to the bottom of it. I also wanted to add to make sure she continues to see some pediatric specialists (endocrinologists/neurologists etc) because no matter how good of intentions of the adult specialist drs they tend to forget the pediatric side of things, because they do not often deal with it.

Best of luck and welcome!

[jjb]

I have recently found that an amino acid/neurotransmitter called GABA (found in the health food store and approved by my doc) has helped tremendously in minimizing the amount and severity of my episodes.

I am also on ativan, robinul, salt tabs, and IV fluid to help them. and lots of other meds for other things.

Smiles

I have thought about some of the GABA supps. The only med my daughter takes now are benzodiazipines as needed.

Either Ativan or Diastat. Benzos help to stop seizures (and prevent) as they help w/ GABA.

Would you happen to have any articles on the GABA supp you are using?

but I was curious if they knew the cause of the stroke and if that mattered at all. When I hear stroke and seizures in such a young child I tend to wonder if there is a metabolic/mitochondrial disease component?

No one can say for sure what the cause of the stroke was, but everyone assumes it had to do w/ my difficult preg.

I ad hyperemesis te entire time, gestational hypertension, a partial abruption @ 28 weeks w/ pre-term labor. I was induced at 35.5 wks w/ pitocin. I was on the "pit" for two and a half days with my daughter going into fetal distress when contractions reached a certain point. We ended up needing a c/s. The cord and placenta were in pretty rough shape.

She has had some pretty extensive metabolic testing ... but I still suspect something metabolic w/ her.

At a week old she was acidotic (low bicarbs), she also had very salty feet as a baby (neg CF test), she has a metallic & burnt smell to her ... sometimes this occurs w/ her seizures (these are REAL smells, not auras). Her saliva would also burn my skin as well as trigger a raynauds response in me while breastfeeding (observed by my PCP)

Because my daughter is on a mod keto diet, she has metabolic blood work done every three months. The labs are reviewed by the head ped metabolic specialist at MGH. I have met w/ this doc once before during a hospital admit. She said nothing jumped out at her BUT said there still could be something. One interesting abnormal result was carnitine. Free & total at one point were. Sometimes this happens w/ the diets, but what is interesting is they went from low at the beginning of the diet to elevated a after she had been on it for a while. This is NOT typical from what I understand.

I have also considered mito issues as she has had a reaction to the flu vax. Seizure along w/ some regression.

Anyway, I am forever looking for more answers. The stroke does not explain everything. She does have some autistic like "quirks" but she is very high functioning. Those quirks could be because her damage is on the rt side of her brain. She also likely has ESES (electrical status). Her EEG pattern shows almost continuous spiking (non-seizure) on the rt hemi and severe slowing on the left.

Even w/ all of these issues, my daughter has made tremendous progress in all areas of function ... I just need to figure out and correct these unusual seizure episodes.

Thanks everyone for your help & insight.

[delphicdragon]

What type of sz did you have?

I actually wasn't diagnosed with a type of seizure. My EEG is normal, but yet I still get these episodes when I shake uncontrollably and feel like I am in a dream state (body is paralyzed, mind is still alert). I tend to get them when overwhelmed/stressed out as my body loses the ability to compensate for the stress. The neurologist I saw felt that these were seizures, but he was loathe to put me on medication to correct them. He was actually the first person who did a "poor man's tilt table" and saw my heart rate go up as much as it does, but sadly this was never followed up as I graduated college and moved.

I've been blacking out for as long as I can remember, standing up and not being able to see for a couple seconds. I always thought that was normal. It apparently isn't....

My O2 also appears to drop when I'm standing. I have not had it tested, but during my last tilt table test I needed supplemental oxygen. Wondering if there is a link there.

Sara

[jjb]

What type of sz did you have?

My O2 also appears to drop when I'm standing. I have not had it tested, but during my last tilt table test I needed supplemental oxygen. Wondering if there is a link there.

Sara

Sara, did they ever keep an EEG on you while they did the ttt?

I do believe Ava's are at least part of these episodes are true neuro seizures, but wonder if part is a cardiogenic type seizure.

The reason I believe it is true neuro sz, is that they are triggered by sleep aka sleep induced.

Does anyone have any dys symptoms that are sleep induced and NOT seizures?

I know neuro seizures are commonly sleep induced.

PS:

Sara, I think I came across one of your posts asking about a good EDS doc. Have you considered seeing Dr Nazli w/ the NIH?

She is awesome. She also understands seizures and dys.

Dr Francamono is also very good I understand.

[ajw4790]

Hi,

Have they looked at Reflex Anoxic Seizures?

[jjb]

Hi,

Have they looked at Reflex Anoxic Seizures?

No and I had to look that one up. It states it is a sz in response to fear, pain or other external stimuli. It also states it causes the hr to drop to the point of bradycardia. Ava is opposite. She is always quite tachycardic during these episodes.

Her seizures are best described as the same sz that occur w/ Panayiptopoulos syndrome (autonomic seizures)

Here is a link:

Panayiotopoulos Syndrome

If you read the article, you can see how it'd be easy to confuse or be able to differentiate between these true neuro seizures & autonomic dysfunction symptoms.

She has had all of the symptoms w/ PS, but they have changed somewhat to more vague but intense symptoms, becoming completely paralyzed w/ speech arrest, along w/ the usual aut symptoms (tachy, o2 drop, flushing and/or pallor and temp changes)

She did have a prolonged episode last year where she went into the same paralytic state, but it was very gradual and began w/ generalize hyertonia (or tonic episode). Even though it was generalized or all of her, it did not look like and was not a typical generalized tonic seizure as she remained somewhat alert and responsive. Also, all of her curled inward, whereas the tonic sz I ave seen in the past, the person stiffens up and arches back. In Ava's odd tonic episode, she looked more like a person w/ quadraplegia and hypertonia, but it was only temporary of course.

[pat57]

" you asked, "Anyone out there have any experience w/ autonomic seizures along w/ dysautonomia?"

I have, but am told they are properly called convulsions. They take a certain form, and this is the confirmed clinical presentation of cerebral hypoxia.

http://www.amazon.com/Syncope-Mechanisms-M...mp;qid=12313790

The presentation is throwing head back, arching back eyes roll back,and extended then retracted limbs (tonic clonic- I think). I have confirmed bradycardia before and confirmed tachycardia, after, with no confirmed HR or BP during. I believe I have been alert at times and unresponsive , I know I have been on the floor- still- eyes open. (seen by husband- plus as I remember it) It is impossible for me to know if I was alert because I cannot know whatever I don't remember and I cannot know if I've remembered everything. However during those type of episodes there has been no conflict of what I recall and what others report.

I cannot remember which is which but with one (either autonomic or epileptic) frequency and force of seizing diminishes gradually, with the other the seizing is just over.

During the "seizure" I think I am conscience albeit dimmed but onlookers report a whole lot more then I recall. My memory would be of 5 - 10 seconds where as others report it lasting 3 minutes . I know my head is moving and my arms and legs but I never feel any impact from the floor or whatever. It causes me much less fear then it causes the onlookers, I hope the same is true for your daughter. Actually I don't have any fear, its a neutral reality.

It might be important to note that my Bradycardia can be very brief. I would describe it as being unplugged. This was very true before my diagnosis, the meds I'm on give me minutes of warning. Which is plenty. If I lay down I abort an event. So that is my answer to your question, but I think your daughter has something unlike me. I do not throw up , nor does it last so long. I have no incontinence, don't know about the pupils of my eyes, have no fever, or hypersalivation.

I have neurocardiogenic syncope.

Wishing you both al the best.......

Pat

[jjb]

" you asked, "Anyone out there have any experience w/ autonomic seizures along w/ dysautonomia?"

I have, but am told they are properly called convulsions. They take a certain form, and this is the confirmed clinical presentation of cerebral hypoxia.

Pat

Hi Pat, an autonomic seizure is typically a partial seizure and most of the time NON-convulsive. Refer to Panayiotopoulos Syndrome.

Your seizure sounds like it is a generailzed convulsive tonic clonic which most often cause autnomic symptoms.

It sounds to me though your sz is related to your dys and why you may be getting such extreme symptoms (the brady is not typical BUT STILL is my worse fear)

The main reason for me seeing the dys neuro is for this very reason. If Ava does have the dys I have AND she has true autnomic seizures ... I worry she is at greater risk for a dangerous arrythmia or bradycardia to asytole.

My daughter is hooked up to a pulse oximeter every night and anytime she has seizures ... so I can measure her o2 & heart rate. It will alarm if HR gets too low or too high or if her o2 drops too much.

So far her heart rate has never dropped. Thankfully.

I did not get to talk to Dr Novak in detail, but he did say dys can trigger seizures, both true neuro & the cardiogenic.

I am still trying to figure out the cardiogenic sz. and trying to figure out how and why dys triggers true seizures and how to control the dys to avoid these sz. Also trying to figure out what is true neuro seizure and what is not. This is very important as the treatment for clusters or prolonged seizures are benzodiazepines. Benzos increase the risk of resp distress. I would think w/ dys there may also be a risk of resp distress. Anyone know if it is???

Thanks for your input.

[juliegee]

Hi jjb-

Welcome. Sorry you (and your daughter) have had to endure so much. Does your daughter have any skin symptoms: flushing, hives, reddish brown freckles? I ask because her symptoms present a lot like anaphylaxis, high HR, low BP, low oxygen levels, nausea, etc. I've learned that my POTS is caused, in part, by a mast cell disorder. I belong to a support group for sufferers and your daughters symptoms sound very much like those of other toddlers with mast cell issues. Has this ever been considered?

All the best-

Julie

[juliegee]

BTW, the metallic smell you describe during this episodes is what really made me suspect a mast cell problem. Masto sufferers anecdotally report that taste and/ or smell associated with an episode or reaction. This can be indicative of high histamine levels.

Julie

[jjb]

BTW, the metallic smell you describe during this episodes is what really made me suspect a mast cell problem. Masto sufferers anecdotally report that taste and/ or smell associated with an episode or reaction. This can be indicative of high histamine levels.

Julie

Interesting thoughts Julie.

I have had anaphylaxis before and in general have elevated mast cells ... or at least that is what a bladder biopsy showed.

When Ava has these issues, her bp is usually fine, though once at pedis it was quite elevated. This was during an ANS event, half her body was purple and cold.

Though she does have quirky rashes every now and again and a somewhat exaggerated reaction to insect bites, se never has had an anaphylactic reaction.

Her o2 falling and hr elevating is almost always during sleep.

I am very interesting in learning more about te metallic smell & histamine levels.

Thanks

[juliegee]

The fact that she's having the episodes at night dosen't rule out anaphylaxis. Folks with mastocytosis or mast cell activation disorder routinely experience anaphylaxis at night. That is how it is distinguished from panic attacks. Histamine builds through the night and is generally highest first thing in the AM. AND, many folks, who are experiencing anaphylaxis present with high BP. There are many articles citing hypertension and MCAD. Since being DXed, I've learned so much about the many ways it can present. Do try to check her BP at home. I bet it usually runs low. I will look for a link about the metal taste/smell.

Julie

[pat57]

Ok, by autonomic seizure you mean causes autonomic problems not caused by autonomic problems. I think also you want to rule out a cardiogenic cause? If so the presentation has sufficent differances to reveal the cause.

If you can spare the cost of the book I put the link up for it will explain it. You can seach the book on Amazon and might very well see how Dr. Grubb

differentiates the epileptic seizure from the neurocardiogenic convulstion.

you wrote,"Your seizure sounds like it is a generailzed convulsive tonic clonic which most often cause autnomic symptoms.

It sounds to me though your sz is related to your dys and why you may be getting such extreme symptoms (the brady is not typical BUT STILL is my worse fear)"

I'm sorry to "nit pick" but the subtle differances matter. It would be generalized in that my whole brain lacked 02 but not generlized by electrical storm, it did not cause autonomic symptoms, my tacyhcardia (afterward)is considered normal due to the supine position and the extreme thrashing. The brady was not caused ,but was the cause.

Epilepsy very rarely causes arryithmia. Or so I have read (don't take my word for it). the fact that her HR does not drop would be very telling and suggest it is not a caridogenic event- wouldn't it?

I apologise if I'm not getting your meaning. This is the first I've heard of autonomic sezures.

and best of luck....................

[jjb]

"I'm sorry to "nit pick" but the subtle differances matter. "

Oh please don't apologize, I nit pick too (often) and agree subtle differences matter ... and is why I am looking into all of this ... making sure we know what is sz, what is movement disorder and what it dysautonomia (or cardiogenic).

I am just now learning about dys symptoms causing sz or sz like episodes such as yours and trying to figure it all out.

About the autonomics seizure, here is a bit of info re PS (Panayiotopoulos Syndrome)

CLINICAL FEATURES. Autonomic epileptic seizures and autonomic status epilepticus are the cardinal manifestations of Panayiotopoulos syndrome. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Other autonomic manifestations include pallor (or, less often, flushing or cyanosis), mydriasis (or, less often, miosis), cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility. In approximately one fifth of the seizures the child becomes unresponsive and flaccid (ictal syncope) before or often without convulsions. Cardiorespiratory arrest is exceptional. More-conventional seizure symptoms often appear after the onset of autonomic manifestations. The child, who was initially fully conscious, becomes confused and unresponsive. Eyes turn to one side or gaze widely open. Only half of the seizures end with brief hemiconvulsions or generalized convulsions. Convulsive status epilepticus is extremely rare. Autonomic symptoms may be the only features of the seizures. Half of the seizures in Panayiotopoulos syndrome last for >30 minutes, thus constituting autonomic status epilepticus, which is the more common nonconvulsive status epilepticus in normal children. Two thirds of seizures occur during sleep.

Right now we are assuming Ava has episodes are aut sz clusters & aut status.

I will definitely look into the book you recommended by Grubb and would appreciate the link.

Panyiotopoulos Syndrome is named for Neurologist Dr C P Panayiotopoulos. I have one of his books.

I would love to read Grubbs book and see how many over lapping issues there are.

When I first started reading about PS, it was said to be rare, now it is said to be pretty common. If you hear of a child having cyclic vomiting, it is possible they are actually having autonomic seizures.

I understand there is a difference between neuro seizure & cardiogenic convulsion, but as the aut neuro says, the only way to know for sure is to have an eeg on a person during an episode.

This is another problem we have. No hosp in my state (maine) will put an EEG on my daughter during one of these episodes (even when she had a three hour episode & they suspected another possible stroke) ... we now get all of our neuro care in Boston, but it is a four to five hour drive so we likely would not be able to capture one on eeg, though Dr Novak really expressed an interest in trying to capture one & I think may be thinking of ways to induce one.

In the above describing PS, it states most aut sz are non convulsive ... Ava's now are non convulsive and consist of only aut symptoms, but she used to have convulsive episodes, mostly partial though.

She has had generalized tonic clonic status ... and had a very unusal tonic episode. He whole self curled inward while she was still aware and somewhat alert.

I was never sure what the heck this was.

I have had formal sz recognition training in the past ( worked many years w/ brain injured folks), have a brother & sister w/ generalized epilepsy so I have seen lots of seizures.

That tonic episode my daughter had was most unusual.

Many would assume it was generalized because it involved her entire body, but it could not have been because she was still aware and responsive.

I have wondered if this could be more of a cardiogenic thing.

I am certain many or most of these episodes are neuro sz, but when they are prolonged, I am not so sure. It seems to me what may be happening is a true sz triggering these cardiogenic events.

"Epilepsy very rarely causes arryithmia."

I wish this were true. Every year more than 50,000 people die epilepsy related deaths. Some of the times it is from status, some of the times accidents that occur during sz and some of the time it is SUDEP ( sudden unexplained death in epilepsy). SUDEP is often caused by a fatal arrhythmia or cardio/resp event.

It is the autonomic simple partial seizure that causes this (the type my daughter has).

While aut simple partials don't UNUSALLY cause these events, they do some times.

I hate being able to say I know of many children that have died epilepsy related deaths or have been in asystole from these seizures.

My concern/fear is that my daughter might be at greater risk because she does have these aut seizures AND likely has dysautonomia. The aut neuro confirmed she may be a great risk of a dangerous arrhythmia. Soooo I want to do everything possible to minimize her risks.

Here is a very good article on seizures & the autonomic nervous system:

Epilepsy & the Autonomic Nervous System

Thanks you VERY VERY much for your insight and help ... and I apologize if I am not being clear.

[jjb]

The fact that she's having the episodes at night dosen't rule out anaphylaxis. ........ Do try to check her BP at home. I bet it usually runs low. I will look for a link about the metal taste/smell.

Julie

Hi Julie, I will try and check her bp ( I will have to get a teensy ped cuff).

I am very interested in the Mast cell & histamine thing. Do you have any good links?

Oh, and about te night time stuff, often when her HR goes up & O2 drops, she usually says se feels scik and sometimes vomits.

One reason I am pretty sure it is more sz ... is because her EEG shows her have sleep activated activity. In general, her EEG is significantly abnormal having almost continuous spiking day and night but more active w/ sleep.

Having said that, we know allergies can trigger sz or increased activity.

I have also suspected that seizures can trigger histamines. I brought this up to a ped allergist/immunoligist, but she said se was not aware of any info suggested sz can trigger more histamines or make a person more "allergic".

Again, thank you all for this wonderful and helpful info.

[juliegee]

Hi jjb-

Vomiting and/or diarrhea is very typical with anaphylaxis. Somehow in reading all of your (Ava's) information, I missed the fact that she has such an abnormal EEG. That is certainly indicative of seizure activity and not necessarily anaphylaxis. I had an EEG when I was dealing with chronic migraines in my 30's and it came out normal. BUT, I have felt very much like I was having a seizure when I was in between anaphylaxis episodes. I could feel something was about to happen, metallic taste/smell, tingling arms, legs, an inability to move, nausea, etc. Then, the awful tachycardia and shaking. Wonder what my EEG would have shown at that point? It truly makes me wonder if there is a link between epilepsy and histamine, etc.

Search this site for many good MCAD articles and please keep us posted on Ava's progress. My heart breaks for all you are dealing with. My son, now 16 y/o, has also been chronically ill since birth (severe autonomic stuff- waiting to see the connection to MCAD?) and it's the hardest thing to deal with- seeing your baby sufffer. You are a great Mom and I know you'll find answers.

Julie

[ajw4790]

Hi jjb,

I looked at the P... Syndrome that you mentioned. It was very interesting. Thanks for posting! It sounds an awful lot like what my sister had when she was a teenager. I had epilepsy as a child and I think that it could fit the description of mine as well. I will have to look into it more...

Does this diagnosis change things? Especially if you have "grown out of it"?

Thanks!

[juliegee]

Now that you mention it, ajw, I did have a seizure (???) in high school. I came to, lying on the floor with my tongue making funny sounds. Never happened again. Makes me wonder how all of this is related.

Julie

[jjb]

It truly makes me wonder if there is a link between epilepsy and histamine, etc.

Well, I am not sure of the details,and do not know much about mast cells or other histamines, but know some of the more recent data on Epilepsy suggest a relationship between inflammation & seizures and one article suggest a new type of seizure med may be an anti inflammatory.

It makes a lot of sense to me.

The type of EEG pattern Ava has is likely ESES (electrical status). ESES can lead to LKS (Landau Kleffner Syndrome) and sometimes regressive autism. One of the more successful treatments for eses is steroid treatment, not a typical sz med.

I believe there is a link between the quirky immune responses, quirky ANS & some seizure types and/or syndromes.