ryansmithrrt
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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.
SPELLS:
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.
INVESTIGATIONS OF PATIENT:
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)
TREATMENT
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
IMPRESSION
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
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.
SPELLS:
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.
INVESTIGATIONS OF PATIENT:
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)
TREATMENT
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
IMPRESSION
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
