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
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Tags: ACTH, extensor spasms, flexor spasms, hypsarrhythmia, infantile spasms, infants, seizures, steroids, West syndrome
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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.
More information can be found at http://www.cdkl5.com
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
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
Wow, I cannot believe pertussis toxin was not mentioned, it is likely the cause. My son had infantile spasms and I just now found out, he is 11 now. He still has auditory processing problems. This was definitely a vaccine injury.
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 John
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,
Akshay Kumar
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,
Jeff
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
You blog is very nice. What tools did you use to make this?
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