One of my readers emailed me and asked me to talk a little about infantile spasms and hypsarrhythmia as he has a niece who has been diagnosed with this condition. So in this post we shall talk about the same.
First and foremost the term hypsarrhythmia does not refer to a disease, it actually refers to a characteristic EEG pattern seen in some infants who have infantile spasms (their EEG shows some special features and is characteristic for their disorder). So what do we mean by infantile spasms. Infantile spasms as the name suggests are spasms which occur in infants (by infants I mean less than one year of age). These are special kind of seizures in which the infant is noted to have spasm like movements. It is hard to describe what spasms look like clinically but they can be of 2 types: extensor spasms and flexor spasms (the infant is noted to have sudden abduction of the arms and legs, a good example would be to imagine what you would do if some one suddenly frightens you: you shall suddenly jerk and abduct your arms and legs).
In infantile spasms, infants have flexor and extensor spasms. They usually occur in clusters and sometimes an infant may have as many as 15-20 spasms in 5 mins. These spasms represent seizures and when you do an EEG on these infants you do find characteristic EEG findings suggestive of seizures. This now brings us to the term hypsarrhythmia. As I stated earlier this refers to the EEG of a child with infantile spasms (the EEG is disorganized, of very high amplitude and shows multi-focal epileptiform activity. By multi-focal I mean, that there are many spots/ areas in the brain which shows signs of epileptogenicity). Infants who have infantile spasms may also have other types of seizures as they grow up. They may have seizures characterized by sudden jerks (we call these myoclonic jerks) and other more typical seizures where-in they have jerks of the arms and legs.
Etiology/ causes of infantile spasms: an infant may have infantile spasms and no cause may be determined even after a good work up. In that case the condition is referred to as idiopathic infantile spasms (idiopathic meaning for which no cause is determined). Usually though in most infants a cause for infantile spasms can be determined after a thorough work up. Work-up for infantile spasms usually should be carried out in a big center where the doctors have sufficient experience in dealing with these complicated cases. The doctor shall order many tests. Some of them include an EEG (at times the doctor might admit the infant and do a more prolonged EEG test. This is called a video-EEG monitoring test). Other tests which may be carried out include imaging studies of the brain such as an MRI (children and babies usually have to be sedated prior to the MRI test), tests of the blood to rule out any metabolic and storage diseases etc.
Once the diagnosis is secured and the etiology determined, then the question of management arises. Management involves 2 issues, one is the management of the underlying condition which is the cause of the infantile spasms (if the spasms are idiopathic we do not have to deal with this issue), the other is the management of the spasms/ seizures itself.
Infantile spasms usually respond to ACTH (adrenocorticotrophic hormone), a type of steroid preparation. It has been seen that when infants are started on ACTH, their spasms may completely stop and their EEG may also normalize (that is the hypsarrhythmia pattern goes away). There are other drugs which can be used too and your doctor shall help you in deciding the best option. It has been noticed that in some infants as the ACTH is stopped the spasms come back.
It is important that infantile spasms be detected and treated in time because ongoing spasms effect the cognitive development of the child and may lead to developmental arrest.
I hope this shall be helpful to some of you. If you seek more information, please do let me know.
Personal Regards,
Nitin Sethi, MD
Braindisease's Weblog 
I was wondering if you could tell me more about this condition. My other half was diagnosed with hypsarrhythmia when he was around 2 years old, back in the early 60s. The family story goes that since it was so severe, and that his father was in the Navy, the family let the Navy doctors play “guinea pig” with him. He does not remember much other than a lot of flashing lights and needles and that it affected the “motivational” part of his brain. And according to the family story, his case was published in a New England Journal of Medicine sometime back in the 60s, which I haven’t been able to find (due to not having access to such an old issue).
Today, he is over 40 years old, and has never had any symptoms since he was around 4 years old, and considered “cured”. You would never know that his brain is “damaged” as he is a “normal” adult. I was hoping you could tell me more about this condition, permanent effects of the condition, and if this condition could reoccur as he ages as the official status, as of when he was 4, was that he was in “remission”.
Dear Steele,
thank you for writing in. Infantile spasms as the name suggests are a kind of seizures which occur in infants. There can be many causes of infantile spasms (developmental brain anomalies, Tuberous sclerosis complex etc.
Hypsarrhythmia is not the name of a disease. It refers to a characteristic EEG pattern seen in some patients (such as those with infantile spasms). When you treat these children (at times with steroids), the seizures may abate (sometimes completely) and the hypsarrhythmia pattern may also disappear and be replaced by more normal looking brain waves (EEG).
It is difficult for me to comment on your other half’s case since I have precious few details. Suffice to say if he is doing well off medications for so many years, then hopefully he shall continue to do well.
You can find old print issues of New England Journal of Medicine (NEJM) in the national medical library archives.
Personal Regards,
Nitin Sethi, MD
Is there any research to suggest that infantile spasms are genetic? My husband suffered from this as an infant, was treated with steroids and has had no further issues. When we have children will they have a greater chance of being affected?
Dear Kara,
thank you for writing in. Seizures like infantile spasms can occur due to various conditions. Some of these conditions like for example Tuberous Sclerosis do have a genetic basis to it.
The risks to your children shall depend upon what the etiology (cause) of infantile spasms was in your husband.
Personal Regards,
Nitin Sethi, MD
Disorders such as Infantile Spasms , West Syndrome, Hypsarrithmia, Lennox Gastaut syndrome, Atypical Rett Syndrome or Autism have been found in individuals who have CDKL5 mutation.
Thank you for that information Leita.
Personal Regards,
Nitin Sethi, MD
My 6.5 month old daughter had her 1st VEEG done yesterday and she was diagnosed with atonic seizures w/o intractable. What does that mean specifically? Her doctor scheduled an MRI for her on next Tuesday. She had been exhibiting upward eye rolling and head dropping for since around 12/18/08. Developmentally, she is perfect. What could be potential causes for this? Thanks!
Dear Chloe’s mom,
thank you for writing in. I can understand your concerns concerning your baby daughter. Atonic seizures w/o intactability means that your daughter was diagnosed with atonic seizure (a seizure which is characterized by loss of muscle tone. This may lead to a fall or at other times, the loss of tone is more subtle such as when a patient experiences a head drop), it was further felt that her seizure were not intractable (one can have seizures which are intractable meaning that inspite of anti-seizure medications, the seizures keep on happening).
When atonic seizures occur in infants, one needs to rule out certain epilepsy syndromes (these present with atonic seizures but patients may have other seizure types too such as staring spells and convulsions) as well as work up the patient to rule out or rule in other metabolic causes of seizures. The fact that your baby daughter is developmentally normal is indeed good news but the above causes still need to be ruled out as there are certain metabolic diseases which present some time after birth (the baby may be normal at the time of birth). The MRI shall be particularly helpful in this process.
Please feel free to get in touch with me again.
Personal Regards,
Nitin Sethi, MD
My 6 Months Son has this problem and as per report “This EEG was taken using international 10-20-electrode placement system.
Patient was asleep during the record.
The background rhythm consists of theta at 5- 6Hz intermixed with some alpha at 8-9Hz.
Throughout the record frequent paroxysmal highvoltage generalised poly spike and wave discharges are seen with suppression of electrical activity.
Photic stimulation does not reveal any abnormality.
Conclusion: An abnormal EEG showing hypsarrhythmia consistent with infantile spasm. PLEASE CORELATE CLINICALLY.”
Related to growth, he was underweighted child and his weight is now 5.6 KG but he is not able to keep eye control on the object. We will do the MRI test on next week and started the treatment also as per the doctor’s prescription. Can you please let me know the suggestion/risk involved and care that can be taken in this case? How much time minimum it can take to care in this and is it possible to 100% normal in this case as above report? Thanks, Santosh
Dear Santosh,
thank you for writing in. While I would not comment on your son’s case in particular, if the EEG is indeed suggestive of hysarrhythmia and he is having infantile spasms (brief seizures where the infant has sudden abduction of the arms and legs, there can be flexor or extensor spasms), then a couple of things need to be done. One is to determine what is the cause of the infantile spasms. Tests like MRI of the brain and other blood tests to rule out metabolic diseases need to be carried out. The other thing of course is treating the infant so as to stop the seizures. Nowdays we have some good drugs for infantile spasms. Proper treatment at times leads to normalization of the EEG and allows development of motor and cognitive milestones to proceed.
Personal Regards,
Nitin Sethi, MD
Thanks Nitin, I really appreciate your answer. As per your suggestion we had done MRI test of brain and it is completely normal. Also he is taking the drugs Vigabatrin from which he does not has problem of seizures from last two days. Also he is taking 1.5 ml valprin syrup two times a day. Can you please give me some more detail about flexor or extensor spasms. What is your suggestion for taking care of child in this treatment and is there any medicine changes required and can we predict about his future like his education, personality, emotional. What the hisotry says about this disease? Regards, Santosh
Dear Santosh,
you are very welcome. While it is hard to prognosticate about the child’s future development a normal MRI of the brain, normalization of the EEG with medication, good control of seizures (infantile spasms), idiopathic infantile spasms (meaning infantile spasms for which no metabolic or structural cause is found) all raise the hope for a good outcome and attainment of age-appropriate milestones.
Personal Regards,
Nitin Sethi, MD
Dear Dr. Sethi,
I am curious about your statement “It is important that infantile spasms be detected and treated in time because ongoing spasms effect the cognitive development of the child and may lead to developmental arrest”.
Can you point me to any studies that validate this?
My 22 month old has been recovering from idiopathic (cryptogenic) Infantile Spasms. She is doing great and the Doctors were uncertain of outcome due to late diagnosis. She has 4 therapists and the consensus is she is only about 2 months behind. She went the ACTH route and then Topamax. We are in the phase of eliminating Topamax (6 weeks to go). She has been seizure free for 1 year. Last Video EEG 3 months ago showed only minor left hemisphere slowing — Doctors said they would not have noticed it i they did not know her history. Fellow parents, there is hope, our daughter had Hypsarrythmia and lost the developmental mile stone of being able to roll over. She is walking and talking (30 words, 10 she uses constantly — this, up, on, in are her most used and functional communicators), vigilantly exploring the world around her through play, and very happy. We are concerned about learning disorders which is a far cry from what we feared in her darkest days.
Dear Chris,
I am happy to hear that your little daughter is regaining her milestones and catching up. Frequently once the spasms are effectively treated (ACTH therapy may cause normalization of the EEG), the child may start regaining milestones.
As regarding my statement, the general consensus is that the sooner the infantile spasms are detected and effectively treated, the better is the cognitive and developmental outcome.
Personal Regards,
Nitin Sethi, MD
Dr. Sethi,
Will you please read the message I sent to Chris and give your input? I know there are no definative answers. I just want to know whether the things we are seeing offer any indication of what my nephew’s future holds?
I’ve never been on this website so I’m not sure if you have access to my message to Chris. In case you don’t, I’ll include it below.
I appreciate any information you can share.
Thank you for your time.
Nancy
Hi Chris,
My nephew was diagnosed with Infantile Spasms week before last. I see that your letter was written nearly a year ago. Do you mind telling me how your daughter is doing now? You said that your daughter lost the developmental mile stone of being able to roll over. What else did you see.?
Two weeks ago my nephew was a very happy 7 1/2 month old baby who smiled and laughed at everything and everyone. We all said that he was the happiest baby ever. The one thing that was a little concerning was that he wasn’t sitting up. Other than that he was a very normal baby. Then he got what we thought was a cold. From there his personality changed completely. He became fussy but we just thought that he didn’t feel good because of the cold. Next he started having spasms. The spasms started on Saturday, on Tuesday his parents took him to the emergency room at CMC in Dallas where the diagnosis was confirmed. His EEG was abnormal (Hypsarrythmia), the MRI was normal, the spinal tap was normal as was the blood work that we’ve received so far. We are still waiting for the chromosome and metabolic studies to come back. He was started on ACTH on Thursday (less than a week after the first spasm was noticed.) He has had 9 doses so far. He is still a very different baby from the one he was before. He rarely smiles, he drools excessively, he rubs his eyes often as if they itch, he keeps his arms down to his sides most of the time (he can lift them and does to rub his eyes), he’s not having the spasms like before but he does motions with his mouth that we think are also spasms. . He’s fussier and excessively hungry which I know are side effects of the ACTH.
So my question to you is, other than not being able to roll over, did you see any of these things with your daughter? If so, did they go away or improve with treatment? If they did, how long did it take before she started acting more like herself? We just want to know whether the things we are seeing are expected at this stage of the game or are they indications that his outcome may not be very promising?
I know you are a parent, not a doctor, but I would just like to be able to compare notes a little to maybe help us understand whats happening.
I’m very happy for you that your daughter is doing so well. I just pray that my little nephew will have a good outcome. Any information you can share will really be appreciated.
Thank you for you time and I wish the best for you, your daughter, and your family.
Nancy
Hi Chris,
My nephew was diagnosed with Infantile Spasms week before last. I see that your letter was written nearly a year ago. Do you mind telling me how your daughter is doing now? You said that your daughter lost the developmental mile stone of being able to roll over. What else did you see.?
Two weeks ago my nephew was a very happy 7 1/2 month old baby who smiled and laughed at everything and everyone. We all said that he was the happiest baby ever. The one thing that was a little concerning was that he wasn’t sitting up. Other than that he was a very normal baby. Then he got what we thought was a cold. From there his personality changed completely. He became fussy but we just thought that he didn’t feel good because of the cold. Next he started having spasms. The spasms started on Saturday, on Tuesday his parents took him to the emergency room at CMC in Dallas where the diagnosis was confirmed. His EEG was abnormal (Hypsarrythmia), the MRI was normal, the spinal tap was normal as was the blood work that we’ve received so far. We are still waiting for the chromosome and metabolic studies to come back. He was started on ACTH on Thursday (less than a week after the first spasm was noticed.) He has had 9 doses so far. He is still a very different baby from the one he was before. He rarely smiles, he drools excessively, he rubs his eyes often as if they itch, he keeps his arms down to his sides most of the time (he can lift them and does to rub his eyes), he’s not having the spasms like before but he does motions with his mouth that we think are also spasms. . He’s fussier and excessively hungry which I know are side effects of the ACTH.
So my question to you is, other than not being able to roll over, did you see any of these things with your daughter? If so, did they go away or improve with treatment? If they did, how long did it take before she started acting more like herself? We just want to know whether the things we are seeing are expected at this stage of the game or are they indications that his outcome may not be very promising?
I know you are a parent, not a doctor, but I would just like to be able to compare notes a little to maybe help us understand whats happening.
I’m very happy for you that your daughter is doing so well. I just pray that my little nephew will have a good outcome. Any information you can share will really be appreciated.
Thank you for you time and I wish the best for you, your daughter, and your family.
Nancy
Hi Nancy,
How is your nephew doing now. My son now 6 month is having very similar story and symptoms said by you above.
only thing is he is not given ACTH, instead given Prednisolone steriods for a period of 1 month (we are in mid of that)
we keep our fingers crossed.
Thanks,
Balaji
My daughter, who is 16, was diagnosed with infantile spasms at 6 months corrected age (she’d been 11 weeks premature). She was treated with ACTH and the seizures stopped and she was taken off the acth. She has been seizure free since then and made up her mild delay.
She is a normal, healthy 16 year old. She has a learning disability in math and urinary retention that leads to lots of UTIs.
Lately, however, she’s been feeling faint (actually passed out twice, very clammy etc), dizzy. maybe two or three times a week. Her pediatrician just ordered blood tests and we are waiting to see an neurologist. A cardiologist just saw her and her heart is fine.
My question is, do seizures or seizure activity cause dizziness and/or fainting? This has been going on for a month…
thanks
Dear Christina,
thank you for writing in. There are certain kind of seizures which can cause sudden loss of muscle tone with/ without loss of consciousness. We refer to them as atonic seizures (also sometimes referred to as drop attacks). I would do what you are already doing. See a cardiologist and get an opinion from a pediatric neurologist/ epileptologist. They should be able to figure out what is the exact etiology of these attacks.
Personal Regards,
Nitin Sethi, MD
Dear Elizabeth,
thank you for writing in. You raise a very controversial issue about the links between childhood vaccination and development of neurocognitive diseases such as autism, seizures and so on. Till today we still lack proof for a definite cause effect relationship and the American Academy of Pediatrics recommends that all childhood vaccinations be administered.
There is a lot of research going on in this field and hopefully soon we shall know the answers.
Personal Regards,
Nitin Sethi, MD
My daughter had infantile spasms when she was 4 months old in 1986. She was treated by Dr. Peter Dunne with ACTH and was completely cured by the time she was 10 months. She is now 23 and just graduated college this past May. At the time Dr. Dunne said he planned to write about my daughter in his medical journal. Do you know of Dr. Peter Dunne and do you know if he is published?
Dear Danny,
thank you for writing in. I am happy to know your daughter has done so well. I apologize I do not know Dr. Dunne personally.
Personal Regards,
Nitin Sethi, MD
What is the difference in effectiveness for infantile spasms of ACTH compared to vigabatrin?
Dear Kelly,
they are both effective for infantile spasms, though ACTH is the drug of choice and can work wonders.
Personal Regards,
Nitin Sethi, MD
Our daughter was diagnosed with hypsarrythmia within hours of her birth. We were told it could have been because she did not get enough oxygen during her birth. She was born with no holes in her nose. This condition was corrected after she was transported to a speciality hospital fo children. We were also told that this condition was so rare that they did not have a lot of information about it and how to treat it. We were also told that is was because of hypsarrythmia that she died. (she was on life support for 45 days). They tried several medicaions but nothing seem to help. When I read the letter it doesn’t seem that rare of a condition? Do you have any information that might help me understand. Are there different kinds of hypsarrythmia?
Dear Diana,
thank you for writing in and please accept my sincere sympathy on your deep loss. Hypsarrhythmia is not a condition or a disease. It merely refers to the EEG pattern (electroencephalogram –brain wave pattern). Many conditions and disease processes including hypoxia/ anoxia (lack of blood and oxygen flow to the brain) can cause this brain wave pattern.
Personal Regards,
Nitin Sethi, MD
My 9 month old son was diagnosed when he was 5 1/2 months with infantile spasms. He was on ACTH for 12 weeks and went up to 2 weeks seizure free, but as we weaned him off the ACTH the seizures returned full force. We just got out of the hospital last Thurs. and are trying the Ketogenic Diet which is VERY hard. He can only eat certain amounts at certain times of the day and are still in the beginning stages of ketosis. We know it’s not guaranteed that it will work, but nothing else has worked for us this far. We have very knowledgeable neurologists, but they just can’t seem to get a handle on this. Is this common or not. As for the pertussis vaccination, we were just permitted (note and all for our pediatrician) to get his vaccinations since he only has had his 2 month vaccinations. The seizures began 2 weeks after they were administered and we have now been told NOT to receive this vaccination at any cost. I am curious as to why this is not a known possible side effect. Personally I know the importance of the vaccinations, but I wish I had been more aware of this when we had his 2 month vaccinations. As it was I would only allow our pediatrician to administer 2 shots at a time with 3 weeks between the others. Why were we not made aware that if his brain was more apt to having seizure activity that this could be the kicker so to speak??
Dear Sarah,
thank you for writing in. I have some experience with the ketogenic diet and yes I know just how hard it is to sustain such a diet. It seems your son has refractory seizures and hence the ketogenic diet is now being attempted. It is indeed difficult for anyone to comment on whether his recent vaccinations had anything to do with his seizures. The link between childhood vaccinations and seizures such as infantile spasms is little a hotly debated topic.
I wish your son my very best, please feel free to write in again.
Personal Regards,
Nitin Sethi, MD
Dear Dr Sethi
Our grandson was diagnosed with Infantile spasms at 5 months. He did not respond to Vigabatrin, but the ACTH treatment stopped his spasms and his hypsorithmia disappeared before he was 10 months old. He has just started walking (17months old)
He is on a combination of Toppomax and Nytrazapan. We have noticed for some time now that he is not interactive, non verbal and has a very short attention span. We realize that all of this is a sign of delayed learning, but of course we wonder if we can expect improvement in these social components of his development?
Regards J
Dear Mr. Zanatta,
thank you for writing in. There can be numerous causes of infantile spasms. The prognosis for these children depends upon the underlying etiology of infantile spasms. If the spasms are idiopathic (meaning no metabolic, infectious or inflammatory cause is found for the seizures inspite of a thorough work-up), the brain MRI shows no structural disease and the infantile spasms are detected and treated in time–then a relatively good outcome can be expected.
Personal Regards,
Nitin Sethi, MD
Our son had the flu at 18mos which caused encephalitis. Up until then he was beyond his milestones, now he has been severely set back. He is 28 months now and he has been on several medications with a hypsarrhythmic EEG. They are considering changing his medication from Topamax. They want to do metabolic testing to rule out any underlying cause of the hypsarrhythmic EEG. Should we raise the ACTH treatments or the Ketogenic diet as possible treatments instead of continuing to change his medications every few months? Also what are some possible side effects of the ACTH treatments?
Dear sir Nitin S,
My baby is of 10 months age and diagnosed with EEG and the result is “An abnormal EEG showing hypsarrhythmia consistent with infantile spasm.”
He is global delay.no social smile yet and weight and brain size is good
frequency os spams is 40 time in three sets.
MRI and metabolism report is good.
some medicines are going on since 15 days and we are also observing some development in his activity.
What should we do ?
and what is the future of this baby ?
thanks & regards,
Dr. Sethi,
Our daughter (age 9.5 months) has just been diagnosed with Infantile Spasms on the basis of an EEG and ACTH has been prescribed for treatment. She also has Down syndrome, and I am wondering if that is a known cause, making her case “symptomatic.” No other tests other than an EEG have been ordered to search for an underlying cause. Also, do you happen to know of any studies on the outcomes of patients with infantile spasms and and Down syndrome?
Thank you for your help,
Dear Jeff,
thank you for writing in. You ask a good question and I would not label your daughter’s case as one of idiopathic infantile spasm. Infact infantile spasm in children with Down’s syndrome has been well documented in the literature. If you google the two together, you shall be able to find a few references. The outcome varies and I personally feel is more determined by the Down Syndrome pathology.
Personal Regards,
Nitin Sethi, MD
Dear Dr Sethi
My 6 month daughter was diagnosed with infantile spasm (Salaam Seizures) 12 days ago. Just before the seizures occurred, her developmentale milestones were all achieved (until the 5 1/2 months). The EEG showed a case of hypsarrithmia. The MRI, CT scan and metabolic tests were all normal. Treatment was instantly started with 0.4ml of ACTH per day for a week and then will continue at 0.4 ml every other day for 2 weeks and then an assessment will be made for the remaining 3 weeks. The seizures completelly stopped after 4 days of administration however we started noticing absence of her normal smile and lack of concentration. The pediatric neurologist was optimistic from the first intance and he is still.
My questions are as follows:
1. Can we consider this case as an Idiopathic infantile spasm?
2. Is there a possibility that the seizures will resume after stopping the treatment with CTH? and if that is the case, wht other alternative do we have?
3. What is the likelihood of having any sort of mental or physical retardation? and what can we do in that case?
4. Is it advisable to consult with another neurologist baring in mind that we are very much confortable with the current neurologist? however we do not want to have this sense of guilt that we could have done someting and did not do it?
Thanks
Dear Ziad,
you ask me pointed questions and hence that is what I shall answer.
1. Not sure yet from the information you provide me that this is indeed a case of idiopathic infantile spasms. For that one needs to make sure there is no structural intracranial pathology (MRI brain should be normal) and all work-up for infectious/ metabolic pathologies (like leukodystrophy) comes back normal. You say that this was true in your daughter’s case but I need to know what tests were carried out. Meaning did they check for everything?
2. Yes it is possible that the seizures may come back after therapy with ACTH is stopped. In that case there are options: there are a couple of anti-epileptic drugs with proven efficacy against infantile spasms.
3. Psychomotor retardation/ developmental delay/ developmental regression are all possible. But the teaching is that if the infantile spasms are caught and treated early, a good neurological outcome can be expected.
4. Your last question is the most difficult for me to answer. As a physician, I do not mind when my patients seek a second opinion. In fact sometimes I encourage it if I feel it is warranted. My advise shall be to ask your daughter’s neurologist. Keep him in confidence and do not go behind his back.
Personal Regards,
Nitin Sethi, MD
Thank you for your kind comment. I do not use any special tools. Just simple day to day language which people understands. WordPress does the rest for me.
Personal Regards,
Nitin Sethi, MD
Hi… I am 44 and was diagnosed with hypsarrhythmia as a baby. I had seizures from 5 months to 2 years, used steroid treatments just like Dr.Sethi suggested. I reached the age of 2 or so and the seizures stopped. All cured or so my parents thought…
I had a gran mal seizure at the age of 19 and have been on Dilantin ever since. By the time I was 19 (1984) the docs said that it would not be unexpected that this would happen… back in 1966 when my parents hell ended, they were told I was clear and the docs back then didn’t know any better.
My message for anyone out there is PLEASE get checked on a regular basis to ensure that everything is still ok. Luckily I was lying on a bed and not driving a car when it happened, so I was not a danger to myself or to others.
I’ve had good luck with the Dilantin, now entering my 26th year on the pills. Only when I have tried to change meds have I had breakthrough seizures, then it’s back to the Dilantin… seems to be MY magic bullet.
Dear Andrew,
thank you for writing in. I agree with you a regular follow up is wise as many may never “outgrow” their childhood seizure disorder.
Personal Regards,
Nitin Sethi, MD
my son was born at 32 weeks, and has ongoing medical concerns since then including Necrotizing Enterocolitis; iron deficient anemia; severe eczema; multiple allergies including dairy, egg, barley, shellfish, banana, zucchini. we think there are more but have to do the testing still. he was having hypogammaglobulinemia issues, which have recently resolved, so it appears it was a case of transient hypogammaglobulinemia of infancy thank goodness.
in november 2009 he had 3 days of recurrent upgaze combined with head nodding. then it stopped. it recurred on dec. 31, starting with a very brief single episode, the next day more episodes, the next day it started to happen repeatedly within a short time interval, the following day also were multiple occurences of repeated episodes. there didn’t seem like an obvious timing correlation to them, but my son didn’t seem to be distractable from them.
i took him into the hospital for sick children in toronto’s ER and he was seen by a neurologist who asked us to come back for a VEEG. we were in the ER yesterday, and have the VEEG tomorrow morning. she said she didn’t think it was likely IS given that it doesn’t quite fit the typical presentation, and that she thinks it is likely just stereotypic behaviour disorder, but my son has had those behaviours in the past with head rolling (sometimes accompanied by horizontal nystagmus, and was evaluated by an awake EEG that was negative at 5 months) – i don’t think these head drops are the same sort of thing. he has them when he is quite active, during meals, and during baths. he had one while lying down after being examined yesterday.
today he has had NONE.
i am so worried. it’s been a very long year of ongoing health concerns, the specialists have missed things in the past, and i don’t quite know what to think about this. if they tell me the EEG is negative, doesn’t that mean there is still a chance this is IS? and does IS happen frequently, then stop for a day or more, then restart?
any advice would be appreciated – thank you very much for your blog!
Dear Mr. Raj,
thank you for writing in to me. I am happy to learn that your son is doing so well and that you have not noticed any developmental delay or developmental regression. It suggests that his infantile spasms are well controlled. My advise would be to keep him under the close observation of his pediatrician and pediatric neurologist. At some point of time, they might like to repeat his EEG to assess seizure control. Sometimes a prolonged EEG study is very useful in this regard.
Personal Regards,
Nitin Sethi, MD
Dear Kelly,
thank you for writing in to me. From what you tell me it seems your daughter’s seizures have proven to be refractory to multiple anticonvulsant drugs. Extensive investigative work-up revealed no cause for her infantile spasms. We call this condition cryptogenic or idiopathic infantile spasms (cryptogenic because a cause for infantile spasms is suspected but has not been identified).
I can understand your frustration Kelly. This is what I advise. It might be worth the time and effort to have her evaluated at a comprehensive epilepsy center. Special diets like the ketogenic diet at times work wonders. Also some new drugs are now available. Acthar (ACTH) gel at times works–though it is frightfully expensive and may not be covered by insurance. Neurostimulation devices like the vagus nerve stimulator (VNS) can be tried though to my knowledge there is little data on its efficacy in infantile spasms.
Personal Regards,
Nitin Sethi, MD
Dear Dr.
My 11 weeks old daughter diagnosed with pre-hypsarrythmia on her EEG report a week ago.Had jaundice one week after birth and treated.The EEG Summary shows,patient notes:Szs, Sedated sleep shows a 4-5 cps background. Recurrent sharp and slow form and polyspike wave discharges occur, more on the Rt.
During the latter part of tracing a burst suppression pattern emerges, burst from activity lasting 3-4 seconds and suppression 5-6 seconds.
Photic: No change.
Impression: Pre-Hypsarrythmia.
Treatment 1.5 ml sodium valproate two times dailyfrom last one week, no improvements found,activities slow,no smile, She cries suddenly, jerks both legs and hands, turns eyes to side, physical growth is good, weighs 4.7 kg now and was 2.75 kg at birth.
please guide us on this.
Thank you.
Venkate g
Hello Dr. Sethi,
My son diagnosed with hypsarrhythmia consistent with infantile spasm when he was age of 4 months ( social smile and focus was missed at that time)
Test reports ( MRI , Metabolism and other blood tests ) are normal.
Spasm are controlled after 3 months treatment( valproate sodium, ACTH , other steroids tab.) and completely stooped when he was 13 months and EEG report better but not prefect yet.
Now he is age of 25 months and can sit himself, can stand with support, smile is very good but lack in concentration, reach ability towards object and no interaction , start to speak two character sound only.
Now he is under the treatment of Valproate Sodium Syrup and occupational & physio therapy.
Now my question is :–
should we stop Vollaprine sysrup ?
should we go for some other treatment for his focus and concentration or O.T(therapy ) is sufficient and wait fo some time more for his good outcome?
Please suggest.
Thanks in advance
Akshay
Dear Akshay,
thank you for writing in to me. Infantile spasms if detected in a timely fashion and treated appropriately (ACTH is frequently the drug of choice) respond in a dramatic fashion with at times complete cessation of spells and “normalization” of the EEG (that is the hypsarrhythmia changes go away and the EEG looks normal). A meticulous work-up is then initiated to determine the underlying cause of infantile spasm (various degenerative, metabolic and toxic etiologies need to be ruled out). The seizures at times come back if anti-epileptic drug therapy is stopped prematurely. Also as the child grows up the EEG pattern may change into other epileptogenic patterns such as that of Lennox Gastaut Syndrome. Ongoing poorly controlled seizures shall hamper his development and he may start regressing in his milestones.
I have not examined your son and so cannot answer your question whether sodium valproate (syrup) can be stopped but my advise would be NOT to do this without consulting his doctor first. Early intervention in the form of physical and occupational therapy as well that geared towards cognition should continue.
Nitin Sethi, MD
Dear Tom,
thank you for writing in to me. My advice would be to follow the advice of your son’s doctor. They would likely repeat an EEG study and then make a call on the need for ACTH.
Personal Regards,
Nitin Sethi, MD
My son was diagnosed with IS on July 22, 2011 at eight months old. He never actually had a “spasm”, just a subtle eye roll every now and then. Thankfully, his pediatrician believed me and sent him for an EEG. It did show hypsarrhythmia, so we started ACTH immediately. He is weaning now and will complete the treatment in two days. At his last EEG on Aug. 5th, the erratic brain activity was only evident in his temporal lobes, so the doctor was very pleased. We had also only noticed one little eye roll during the treatment process. We go back for another EEG on Sept. 6th.
My questions are: Can the hypsarrhythmia return?
Also, over the past week or so, he will look at his father and me as though he doesn’t recognize us. It’s a very puzzled look that lasts anywhere from a few seconds to fifteen minutes or so. I’m afraid this is related to seizure activity, but I can’t find any information in my feeble research attempts. It concerns me most because the erratic activity on the last EEG was in his temporal lobes, which control memory. Am I looking too far into this or is it possible that he is suffering short-term memory loss at this age (9 months).
I appreciate ANY words of wisdom!!
Thanks,
Lanita
Hi, My son, 9 months, just started having sudden “head drops.” I’d describe it as if you were sitting up and you started to nod off and you head suddenly “fell” but it happens so brief and quick. Yesterday he had an EEG and it came back normal, and the doctor did not see anything abnormal in his exam. This morning he had another “head drop” upon waking up. His limbs always remain “normal” with not stiffing nor limpness. His milestone developments are on track. I’m struggling on what steps should be taken next or if I’m just being overly concerned. Thank you for any suggestions or direction you can provide. Thank you -V-
Dr. Sethi,
My husband and I have been doing crazy research and can not find much regarding trauma to the brain and IS. Our son was injured in a daycare accident 4 months ago. He was 5 days shy of turning 4 months old. He suffered partial-complex seizures in the hospital which were difficult to control, but were done so within a few days (Dilantin and Phosfenytoin were used). He had bilateral subdural bleeding. He had two surgeries to externally drain the blood, but we had to have a 3rd to have a shunt placed. It is working.
He had a blood clot in one of his transverse sinuses in his brain, which thankfully, resolved with some blood thinners and his own body. He has no blood or clotting disorders. He is about 1 month behind in his development and attends PT and OT each week. He has been making good progress. He smiles, rolls to his tummy, eats solids/puffs, has advanced language (according to therapist).
We just found out a few days ago that he has Infantile Spasms. He will be starting Vigabatrin today. He has been on Keppra to prevent partial-complex seizures since the initial injury and has had none up to this point. Doctors are concerned with his vision, but risks of ACTH and the fact that our son is sick right now, pointed us in the direction of Vigabatrin.
What is the likelihood of him getting other seizures as the IS is stopped? What could be the prognosis of his development? He seems to continue to improve although developing IS in the past several weeks, but he has also plateaued in a few areas? Has has a very feisty, strong spirit.
Any information you could give us would be helpful. Not much out there regarding a baby’s head being hit on something and shaken.
My son was diagnosed of IS at 2.5 months, he was an emergency section due to fetal distress, but was fine at birth and cried as well. He has been on vigabatrin since and has had a course of steroids. Developmentally he still dosent roll over actively, does not sit, does not hold things in hands. He has had numerous tests all positive along with a normal MRI. He is gaining excess weight and has swelling all over body specially face which is the side effects of medication, he still cannot digest any form of baby cereals or rice.
Can anyone help me with some inputs on how I can help my child catch up on his development. How long will he be on medications?
Hello,
I discovered this blog when researching the connection between idiopathic seizures, or West syndrome, in infants and young children with EGG showing hypsarrhythmia, who are resistant to anti-epileptic drugs, but vitamin B6-responsive or B6-dependent. I only saw the mention of ACTH as a form of treatment. Could you please speak to when you would suggest parents of patients inquire about pharmacological dosages of PLP, pyridoxine, or pyridoxal for treatment? Also, when would you suggest alternative treatments such as diet changes in place of, or in addition to other treatment?
Thank you,
Erica
My little girl is three month old, she was having spasms which were typical of infintile spasms, however when she had her EEG it was not that of a child with infintile spasm! She also had an MRI scan which came back completely normal! Yet she is still having the spasms! She is receiving meds to try to control the fits! They have told me that this can still turn into infintile spasms, I want to know what percentage of children with the same conditions as my daughter go onto have infintile spasms??
My daughter, now 8, has Down’s Syndrome and had Infantile Spasms starting at 8 months. Despite quick intervention at a good teaching hospital, and going to several great hospitals for consultations, her spasms got progressively worse for another 8 months. We tried over 15 medications, in dozens of combinations. In the end the ketogenic diet worked, which she was on for 3 years.
She is now g-tube fed, non verbal, and can not walk. She lost so many developmental milestones, her therapists were crying.
IS is a very debilitating kind of epilepsy. While some children snap out of it unscathed with the right care, some do not.
Words of advice: FInd a great doctor at a major teaching hospital. I want to encourage parents to contact their county social services office to seek benefits for their child, such as Medicade, a social worker and SSI, that they may qualify for with IS. “Birth to 3” (it is called something different in other states) is a Federal program of therapy for young children. After age 3, many children can get in home “personal care” aids, and diapers if they are disabled. Also at age 3, your local schoold district becomes responsible for therapies and educational services until the child is 21. “Developmental physician” is one who specialises in people with developmental delays, and can write perscriptions for insurance-paid- therapy, braces, wheelchairs, etc. For school you will have to write an yealy IEP, individual educational plan. Make developmental milestone goals, and have the school work twards them every year. There are many camps and respite opportunities for all kinds of medical problems, including epilepcy. Take advantage of them to make life as normal as possible.
Dear Laura,
thank you for writing in. You share so much useful information which I am sure other parents shall find very helpful. Your strength, courage and love for your daughter is evident. I wish both of you my very best.
Personal Regards,
Nitin K Sethi, MD
My daughter has IS she was diagnosed at 3months.
She was put on a high dose of steroid for almost 4 week, but dispite all the horrid side effects she suffered this drug did not work at all.
She was started on Vigabatrin almost 2 weeks ago now, and her seizures stopped within 3 days of treatment. Her smile returned, as did her laugh and her voice which was wonderful to witness.
However I was wondering what happens if the EEG hasn’t improved?? As I feel that she is still not fully free of seizure activity. She still has some blank moments and she has been rubbing her eye constantly! I’m really worried that these are different kinds of seizures??
We are having another EEG next week, so I’m really hoping it comes back normal, but in my heart I don’t think it will!! Many thanks Lisa
Hello my son Angel has infantile spasms he will be 3 yrs old next month. he had his first seizure at 2 months old it was 11 days after his vaccines. Angel has low tone and global developmental delays. he dont sit talk, walk , or crawl. he has a gtube. he has failed every drug already and the keto diet. right now hes taking banzel, depakote and zonegran. he did 2 rounds of ACTH second round tooks away hyps but still have a couple of clusters of 100 everyday and 3-4 tonic clonis seizures per day. right now we are looking into if hes a cannidate VNS.doctors have no cause for his seizures. So i have 2 questions 1)Do you think vaccines caused his spasms? 2)what would you reccommend him trying? hes tried topomax,clobazam, kolonopin, sabril, keto diet, b6, lamitcal,keppra,valproic acid,i feel like theres another im forgetting but hes tried them all please help with any info
Thank you,
Dear Monique,
thank you for writing in to me. There is no evidence which to my knowledge has convincingly linked infantile spasms to vaccine administration. From your history Angel is currently suffering from medically refractory epilepsy. My advice would be to consult a pediatric epileptologist at a big academic/university hospital. They might be better equipped to treat his intractable seizures.
Personal Regards,
Nitin K Sethi, MD
Hi monique, if more than 3 meds none of them are going to work. My daughter is exatcly the same as yours, same meds used as yours, same diagnosis with low muiscle tone and global developmental. Everyrhing you described from 2 months with vaccines and acth therapy same with me too, so, I weaned her off all meds, and I went the homeopathic/phytotherapist route, if all else fails give herbs a try. I’m going to do that now for a trial period of 6 months to a year. Its your choice. Using all these anti-convulsant meds have side effects on the body of such a little child. I am not a doctor but deep down inside I believe the natural plant route is going to work if all else(chemical/unatural) fails.
Thank you both for the response angel was at UCLA for 2 years and now for the past 7 months we are seeing and eppiltologist at Cedars Sinai in Beverly hills….and he has also seen a homeopathic dr and we do herbal meds too. But another friend of mine her son has IS and she took him off all meds and is doing acupuncture and his spasms are way less now. Angel also does Hyperbaric oxygen treatments, chiropractic adjustments he also does cranial work with him, and angel does lots of therapy CME therapy that I love has helped his muscle tone and suit therapy I also love , speech, vitalstim which has helped soooo much with his eating. But I need these seizures to stop!!! What’s a phytotherapist? Good luck with that trail I’ve really been thinking about trying all natural just so scared for more seizures like before. Let me know how that works out for you! Thank you again for the Info. Take care~ Monique
Hi Dr. Sethi, this site is a wonderful resource. My question is a bit different. My 5mo old son seems developmentally on-time…can roll over (but doesn’t like to much), smiles, imitates sounds/words, holds head up/looks around/follows people, grabs and holds objects/toys/my fingers. Just 2 days ago, he started to have these abrupt head noddings once a day around 8pm, about 3 nods in a row. He will burp afterwards and stop but it’s scary so see his body “give away” in a very uncontrollable manner when these head nods occur. We are going to call the dr first thing tomorrow to get him a EEG…but in the meantime, are there any other possible conditions that you know of, other than IS/epilepsy that can cause something like this…like maybe allergies? He doesn’t have a fever so I know it’s not febrile seizures but I just wonder what the possible outcomes are. Thanks for your help!
Regards,
Hi Dr. Sethi,, please disregard my previous comment. We have confirmed that my baby has infantile spasms. He had his first episode today but I wonder if random non-clustered startle reflexes that he has had in the past could have been indicative of these impending seizures. He was also a very colicky baby when he was younger. Also, as he had one episode, they’re starting to happen more often. They last 10 min long, is that on the more serious/severe case? What can I do while he’s having an episode to calm it down/make him feel better/help it stop? Thanks so much for this site and resource.
My 8 month old daughter Emma started with what we called “a twitch” about 3-4 weeks ago only noted when getting a bottle or very tired. Her neck would bob to the side and her L arm would twitch upward. Through it all she remained interactive, laughing, never lost eye contact. She is developmentally normal, sitting up and standing with support, using pincer movements with her fingers, etc. Last night, the twitch was more pronounced and seemed to involve her L arm more violently where it was raised above her head. Once again, she did not seem uncomfortable or “out of it”. Our pediatrician is aware and we have an EEG set up for 2 weeks from now followed by a neurology appointment. My question is: is 2 weeks enough to delay diagnosis so that she may have lasting effects? I’m just not sure about the timecourse to developmental delays or mental retardation, etc. How quickly do infants with infantile spasms (if that’s indeed what she has) go downhill?
Dear Bill,
thank you for writing in and I understand your concerns as a father. Unfortunately I do not have a straight forward answer to your question but I share your concerns. If these episodes are indeed seizures/ spasms, they need to be detected and addressed in a timely fashion. The EEG shall be extremely helpful especially if Emma suffers her typical spells during the EEG study. That shall help characterize these episodes. I send you good luck.
Nitin K Sethi, MD
My boy is was diagnosed with IS secondary to Trisomy 21 at 9 months of age and we are currently on weaning steroids. It was diagnosed quickly and he had typical flexor spasms. Our EEG after 2 weeks of treatment was back to normal.
I have noted some minor head drop when sitting that don’t interfere with his activities, he is alert and responds during these. I am concerned this is some form of seizure but in light of his normal EEG am unsure. They mentioned the steroids can make him quite weak also so am hoping it is only that. Any thoughts?
I was wondering if you could give me more information about infantile spasms.
My daughter was born one month early, and is now almost two months old. She was healthy when she was born except that she was a little bit under 5 lbs. We were home 4 days after she was born. In the last couple of days I have been noticing less than normal activity from her.
It usually happens after I and done a feeding. She will get a blank look on her face and act like she is in a different world. Most of the time her eyes will roll back, and her arms fling out to the side while her legs rise. All of the doctors I have talked to seem to think that this is normal, but from the research I have been doing I don’t.
Thank you in advance.
Hello my daughter was diagnosed with aicardi syndrome at two days old..she also has a choroid plexus cyst,asd and vsd,infantile spasms,hysparrythmia,dextrose scoliosis,dysplasia from t4 to t8,a small right eye,and also agenesis of the corpus collosum.she is currently on vigabatrin,topiramate and also phenobarbital…the vigab has decreased sz activity but im wondering should I start the acth…her neuro was pushing for it but im just so scared with the injections and also about her immune system being compromised…she is 7 months now and started seizing since day one…please help…I also want to know how can I build muscle tone,I already do massages but I really want to see her running around driving me nuts one day…any parents want to talk my email is skysmommy1105@gmail.com
My daughter Jill was born 11/2/75 and Dx with infantile spasms at 2months of age. She was started on phenobarb, dilantin with trial of acth to no avail.Ketogenic diet seemed to show dome promisee but seizures came back wirse than ever.Jill has never walked or talked.At 7 yearsa feeding tube was placed after Fundal Plication as she was only 27 lbs. She is now in a nursing home in Fincastle Virginia.I am interested in finding any other oarents who have been thru this g eartbreaking journey. Is dhe now beyond any help? Thank you to any one who can respond to this mothers 38 year heartache. If only once to have heard her call me mommy would have made my dreams come true. Thankyou
Dear Claire,
I am sorry to hear about your pain. Stay strong-for yourself and for Jill. I send you both my best wishes and strength.
Personal Regards,
Nitin K Sethi, MD
Claire,
My daughter, who is 9 years old, has Downs Syndrome and had bad infantile spasms. She does not talk, walk or understand and is g tube fed. She lives at home with nursing care.
She is happy and I live a very full life. I work full time and travel extensively when she goes to respite.
Be strong and look at the positives. I know mydaughter has made my life better and touched countless others.
Laura
Sir,
My sister who is 27 months now have been diagnosed with hypsarrhythmia.She seems perfectly fine most of the time but at times she gets severe headaches.Many times she gets seizures when she falls down while playing with other kids.Her weight is also not increasing.The patterns of her brain activity obtained through eeg is very complicated with florid high amplitude etc. Is this curable or she is mentally retarded ? Can u please tell the possible cures ? Her problem is not genetic. Hoping to get a reply from u sir. Thank you
Hi, I had seizures as a baby and was told I had hypsarrythmia, which I see here was the brain wave pattern. All I know is that I was treated with a steroid that made me very fat as a 6 month old :). At 17 yrs. old I started having partial seizure involving my right hand “drawing up”. That lasted 3 yrs and then I had a grand mal seizure at 21. I had a second one 9 months later when I attempted to go off meds ( when I found out I was pregnant). Went back on meds and stayed on them for about 14 yrs and finally was able to stop taking them. Now 12 yrs later I am having problems with my right foot (toes) cramping ‘drawing up” and am afraid it all might be connected and starting up again. Any thoghts. Are there any studies showing what happens when these babies become adults? By the way, I was born 1966 and treated in 1967 at Shands in Gainesville FL.
My nephew was diagnosed with infantile spasms at 6 months and being treated with ACTH. Initially it seemed that his seizures were getting less but towards the end of the treatment it was not controlling the seizures at all. The doctor suggested increasing the dose but his eye rolling have increased. What is the second line of treatment in such cases. He also has cortical visual impairment.
Thanks a lot.
K
My son is 17 months old now, diagnosed with IS at 8 months. Since then we have had 2 attempts at ACTH, both times there was short term seizure freedom of 2 months. We have also tried rivotril, prelone, aspelone, keppra, epilim and topamax. Unfortunately he is still having about 20 single left arm spasms a day. The IS originated from a right side bleed on the brain at birth (IVH). The doctors have now said we should consider a right side hemispherectomy. I haven’t seen any comments in this forum with regards to a hemispherectomy, do you have any thoughts on the subject? Thanks
Dear Nitin
I am writing to you for my son who has been diagnosed with infantile spasm since his 3rd month. Since then we have been trying many doctors and medicines to stop his jerks which he does 10-15 times a day. We tried Acton Prolongatum a type of ACTH available in india and also vigabatin. however did not see any hope of recovery. We also tried many anti-epileptic drug like topamax, zoramax and methyl-predisolone. None of the medicines worked for him. Atlast we ended up with another doctor in hyderabad , india who has given him IVIG dose for 5days, soon then his jerks and small small spasms stopped. However his EEG is still abnormal showing hysarrthmia. Our physician advised that he would be giving him IVIG for another 5 months as booster dose.
Now my son is 15months by age however he is drastically delayed in milestone, he just learned how to roll over , no sign of crawling or sitting. His other test like MRI, Spinal tap and metabolic workout is normal.
Not sure what would be my son’s future. also i wanted to know from you whether Acthar gel (ACTH) which is available in US is superior than what is availablein india by Acton Prolongatum ?
Do IVIG works for abnormal EEG ?
Please suggest.
Regards,
Rajib