My 16 yr old daughter has had vision loss (total lasting under a minute 12-15 times a day) for 3 1/2 yrs. 5 months ago, the following new symptoms started with temporary peripheral vision loss, then severe headache:
1. Constant head pressure at base of skull 24/7 with no relief from otc pain relievers or migraine meds (Topamax and Maxalt increased pain 20 x's worse than normal)
2. Nausea -almost always, relieved with Levsin
3. Burning pain in head and right side of face occassionally, when in face generally has a rash on face
4. Numbness/tingling on right side of face, and other areas of body
5. Orthostatic Hypotension- shown with Heads Up Tilt Table test, controlled with diet
6. Dizzy & lightheaded occasionally.
7. One occassion with increase in headache & nausea, blood pressure was 88/40 and pupils dilated and would not constrict to light.
8. One occasion, I noted her face pale with bluish tint around mouth and she stated was numb.
9. One occasion, speech came out mixed up, lasted 1-2 minutes.
10. One occasion could not spell her name.
11. Babinski response when Neuro checked and when I check this.
12. Fatigue, has not made a full week of school since Oct when this started
13. Pituitary Gland is large round globular shape (9mm) Endo said normal for teen
14. bad acne (on back only). Dermatologist though staph, after antibiotic did not work, said no.
15. Joint pain, especially the jaw lately.
17. Constant heavy yeast discharge
We have had test: MRI & MRA on Brain & Cervical, EEG, Echocardiogram, chest x-ray, EKG, Tilt Test, Normal blood work, Blood test for hormones, Blood test for lyme, Urine screen for Heavy metals, ANA Blood test, Blood test for autoimmune and connective tissue disorders.
Mild Spinal Bifida Occulta
Right Vertebral artery ends in PICA, does not connect basilar
Low Lymphocytes (6.1)
High Neurophils (89.3)
She does have breast lumps (rignt breast): biopsied and diagnosed as fibroadenoma
All other test fine.
Neuro said Babinski response without other findings not to be concerned about. Other Neuro tests, she noted slightly less sensation on right side of body.
Endo said because hormone test normal, pituitary not an issue.
Opthamalogist said all is fine.
Orthostatic Hypotension improved with diet, but symptoms remain the same.
We are at a loss. I can't bear to watch her get worse each week but do not know what else to do. Last test is a spinal tap tomorrow, but I expect the same results as the rest of the test.
Is the Babinski response an issue if other tests were fine? And, I am concerned about the dilatd pupils (both eyes) that would not constrict. This was tested by the school nurse and 30 mins later did constrict. And, lastly, if the Topamax and Maxalt both caused extreme pain (she was laying on the floor for 1 hour rocking herself back and forth), could this tell us something?
Hey there ... did they have anything to say about connective tissue disorder? I ahev a lot of these problems & have ehlers danlos syndrome.
From what I understand, pituitary issues can occur with chiari malformation whihc commonly occurs with ehlers danlos syndrome.
They did blood work to check for connective tissue disorders and immune difficiency disorders. The blood work came out fine. She does have hyper flexible hands/fingers and somewhat in hips. Endo insist pituitary fine (he lonly looked at mri and homone blood work results). She does not have the herniation that most doctors insist on to be Chiari but I am talking with a doctor out of state that deals with Chiari and am waiting for him to answer (I sent all of her workups, tests, etc to him) as to whether he thinks it could be Chiari without heiniation. She had 2 seizures yesterday (focussed gaze and could not speak. She said she heard me calling but it seemed as though I was speaking in slow motion). I am really hoping to hear from anyone that can give me more info on the fact that she has the positive Babinski response.
Babinski's sign or reflex I think is common with Ehlers Danlos. I have it and so does my daughter and mother.
What do you mean by checked her blood work for conective tissue? Often times there is no blood work to do. There are biopsies and saliva samples that can be done, but even then they are not always reliable in terms of an accurate diagnosis. I think only 50% of those with Ehlers Danlos will have a postive biopsy or saliva test.
For Ehlers Danlos, the diagnostic tests are the Beighton scale which measures hyperextensibility ( of thumbs, pinkys, arms, knees and wether you can touch the ground while keeping legs straight). They also check for skin elasticity, bruising, scarring etc.
when poeple have abnormal elasticity or abnormal brusing and scarring ... they often do not realize it is abnormal because it has always been normal for them/
A lot of docs do not recognize chirari if the herniation is slight. The problem is that the size of the herniation does not matter much in terms of symptoms. Someone can have a large herniation with no symptoms and a small herniation with many symptoms.
If I have a herniation, it is slight but I have many symptoms of blocked flow of spinal fluid.
The best folks to contact for chiari is the chiari institute in NY.
Here is a link to the chiari institute:
There is a ton of good info there including videos. One vid on the pitutitary in relation to chiari.
Also an excellent vid on Ehlers Danlos and demonstarting the signs of.
IBS is also common with EDS and spina bifada is sometimes seen as well. We have all of these thigns in my family.
My email address is ***@**** if you would like anymore detailed info on EDS or chiari. We have been seen by the NIH.
I just re read your post and saw the seizures. My daughter has partial seizures as well.
She also gets aphasic sometimes with her CPs (complex partial seizures).
With her SPs( Simple partials) she ALWAYS has dilated pupils. These are autonomic seizures.
Sometimes it is hard to differentiate between the autonomic seizures and the autonomic dysfunction we both have.
Autonomic dysfunction is also very common with both Ehlers Danlos and Chiari.
Signs of AD are, orhtostatic hypotension, orthostatic tachycardia, AV Blocks, GI issues ( gastroparesis, IBS etc), sluggish pupils, heat intolerance, urinary issues etc.
This post screams Chair malformation with hereditary connective tissue disorder to me. If you haven't already, go read the article, "Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue" as well as going to the blog at chiaritimes and reading the recent posts about neurally mediated syncope/orthostatic hypotension.
Thank you for your comments. We are still at a loss. I will check out the sites you suggested. Where is the article?
When the constant symptoms began 7 mos ago, I thought Chiari. But MRI does not show herniation. I sent all of her files and MRI's to a doctor in Austin who handles Chiari patients but could never get a direct answer on whether he thought Chiari is possible. We are still concerned about the pituitary also. A doctor from MD Anderson that deals with pituitary said that he feels that it could be tumor (after reviewing her MRI's) but it is not clear enough to say that it is a tumor. He said we may have to wait to see if it changes to defiinitely show a tumor or not. Her headache pressure at rear of skull has NEVER stopped since Oct 4, 2007 (7 mos). Her transient vision loss is still 15-20 times a day (total blackout for 30-40 secs). There have been 5 episodes (seizures?) since Oct 2007. She is nauseated 24/7 since Oct 07 (no vomitting). Her blood pressure seems to under control now, but symptoms have not improved. BUT every tests is normal.
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