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Paroxysmal Tonic Upgaze
Hello All,
I have come to this site in hopes that someone could shed some light on the diagnosis my 6 month old daughter had received. Paroxysmal Tonic Upgaze Syndrome.
We have an appointment with the neurologist Monday morning. I have had numerous sources tell me I should push for an MRI. Are the eyes rolling back into the head a symptom of anything else? Since there is no test to confirm this disorder and it being extremely rare, I am worried that she may be under diagnosed
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@mrsdykstra welcome to Mayo Clinic Connect. I am not familiar with Paroxysmal Tonic Upgaze Syndrome. Is it like a seizure or more of a movement disorder. The most recent publication I could find was in 2017, it does list the pediatrician that wrote it and list his email. It would be worth a try to email this physician and see if he could give you any insight. I have a rare disease and that is how I found my specialist... by emailing a kind physician that was an expert in the disease. Hope this helps: https://www.researchgate.net/publication/318568946_Benign_paroxysmal_tonic_upgaze_of_childhood_a_rare_syndrome
Corresponding Author: Dr. A.G.A.R. Galappaththi MBBS, DCH Registrar in Paediatrics, University Paediatric Unit, Lady Ridgeway Hospital, Colombo 08, Sri Lanka rasanjalee17@yahoo.com
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1 ReactionHi, @mrsdykstra - I'd like to add my welcome to Mayo Clinic Connect. I can imagine you have many questions with your daughter's new diagnosis of Paroxysmal Tonic Upgaze Syndrome, especially as it's rare.
How did your visit with the neurologist go yesterday?
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Our grandson recently received a similar diagnosis. Open for discussion.
Hi @grandma1, It must be difficult in not knowing a lot about the diagnosis and probably having a lot of questions. How old is your grandson?
Hi grandma1, how is your grandson doing?
mrsdykstra, Did your daughter have Paroxysmal Tonic Upgaze Syndrome, and has it improved? We are searching for information while seeing drs and eye drs. Thank you.