!HELP! 5-month old Sporadic benign localization-related epilepsy syndromes of infANCY

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Greetings all

I need all your help with finding a diagnosis for my 5 month old niece.

She has spent the past two months in an amazing childrens hospital in a very large north american city, but 3 attending nuerologists, 2 attening cardiologists, respirologists, etc, etc....... later we still don't have a diagnosis and I am turning to any source I can for help.

I'm hoping the symptoms will jump off the page for one of you and we can help find a diagnosis together.

Here's her symptoms:

5 clusters of "spells", each cluster has 6-8 spells and the past three clusters have been EXACTLY 14 days apart. Not sure if the rhythmicity means anything.


Starting usually awake or just drifting off to sleep. then a glossed over stare with loss of skeletal muscle tone. rapid cyanosis of face and head followed by peripheral cyanosis. usually she remains flaccid, but sometimes has upper limb stiffness. apnea always for the first 30seconds (hence the hypoxia and subsequent bradycaria often requiring chest compressions) then respirations resume, colour returns and she becomes rousable. post-ictally (10-20 mins) she is drowsy.

Spells last 20-75 seconds, the longer the worse the hypoxemia and bradycardia. The are 1-3 hours apart and cluster in groups of 6-8.

Parental history is negative for any nuerological disease of any kind 2 generations back.

Prenatal investigations were normal, birth was normal.

Spells began at 3 months of age.


Normal MRI x 2 with incidental mild hydrocephalus.
Normal cardiac echo x 2
Normal EEG x 4 - however the latest did capture one spell in which there was temporal region abherrent spikes.
Normal throat and trachea via bronchoscopy
Normal bloodwork across the board
Normal genetic screening (I was told aprx 20 phenotypes were checked)
Normal nuero development otherwise (meeting typical infant benchmarks)
Large baby (21lbs, 26inches long)


Pheno x 4 weeks ineffective (with highest dose at 45?day)
Topirimate x 2 weeks ineffective
Reflux med (cant remember name) has effectively reduced back arching after feeding


I am an ICU respiratory therapist and clinical trialist myself thus I have scoured the universe for articles and case studies but have not found anything conclusive

The most current diagnosis is Sporadic benign localization-related epilepsy syndromes of infancy

If this case rings any bells with anyone whatsoever pls comment, we are looking in all directions for help. The spells are life threatening given that she needs bag mask oxygen and compressions, which any health care worker out there knows is a scary thing.

Thank so much for your help

-One concerned uncle


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Welcome Uncle Ryan

I've recently become an uncle so I can only imagine the stress you're going through.

Sorry I can't answer your questions but you might want to check out the Nursery http://www.coping-with-epilepsy.com/forums/f42/. There might be something helpful there. I'm sure a lot of parents will be logging on in the next 24 hours to see your message as well.

Best of luck.


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Hi, hello

and how do you do.

Wow, you do have some issues going on there. Eric is right to go check out the nursery.........in the meantime, I will go PM 2 people I know that might be able to help out, to possibly post to you.

I'm sure you're going to find plenty of support here. :)

Take care.



Doctor aiming to become neurologist
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I'm Sorry - but i know when to admit i'm flummoxed.you need a really good pediatric neuro. Meetz pm d me about your case , but you seem to have done everything i would have suggested in this child's case. At a first "jump off the page" impression it looks more like a cardiac issue but that should have been picked up on the echo. the cyanosis can be secondary to seizures but i don't have much experience with pediatric patients and quite frankly am not qualified to comment further without inserting my foot in my mouth. i don't want to confuse you further.
The only other possibilities are muscular disease(? genetic myopathies) or perhaps metabolic disease. both of which require extensive investigation but my guess is that if all those specialists didn;t pick it up , then i;m unlikely to. Wish your niece all the best and a speedy recovery