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
Filed under: Uncategorized | 16 Comments
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