Re: lack of diagnosis

Posted By CCF MD mdf on August 31, 1998 at 22:01:40:

In Reply to: Re: lack of diagnosis posted by Kathleen on August 08, 1998 at 17:04:10:






Dear Doctor,
My wife and I are from Argentina. After we discovered one-second head nod seizures (6/7 per day) our 2 year old daughter has been diagnosed with epilepsy. The history is as follows: An EEG showed focal activity in the occipital lobe, so a MRS was conducted and a brain injury appeared in that area. The images were rare. A subsequent tomography and angioresonance dicarded the existence of a tumor and showed calcifications and irregular veins, though these were not sufficient to diagnose a vascular problem. Doctors searched if our dauhgter was celiac but a biopsia discarded also this possibility. Since the seizures increased in number (she was taking Luminaletas) doctors made a new EEG, showing that there was no expansion of the abnormality though it was more active. They gave Sabril to our daughter but no effect was achieved, so they switched to Depakene three days ago. Also three days ago and 45 days after the firts tests were done, a new MRS and tomography was conducted to see whether the brain had expanded to other parts of the brain. The images were exactly the same as the ones taken before, so doctors think that there is no organic active process in the brain, the injury might have been produced before birth. She still has head nod seizures of one second duration, these have increased the number (20/30 per day) but doctors do not know the cause of the calcifications, because the images are rare. They think it might be Sturgen Webber without Sturgen-Webber marks (there are no birthmarks) or meningo angiomatosis. In any event they think that there being a brain injury, it is difficult to control the seizures and would eventually recommend surgery after all meds are tried, which my wife and I wish to avoid. The questions are:
May the calcifications produce the seizures ?
Are seizures in these type of brain injuries so difficult to control ?
Given the kind of sophisticated tests that our daughter is receiving in Argentina, would a consultation in the US be of any benefit ? What could make the difference ?
Thank you very much for your time.
  
Where it says MRS, you should read MRI.
Carlos could you tell me what Sturgen-Webber is and where would the birthmarks be?
~~~~~~~~~~
Sturge-Weber syndrome (note the spelling) is a congenital syndrome,
symptoms of which typically include a port wine stain birthmark on one
side of the face/head (often involving the eyelid and forehead) along
with a similar excessive growth of blood vessels on the surface of the
brain, usually in the occipital region on the same side as the birthmark.
Seizures may be present.
web pages for more information:
http://www.sturge-weber.com/
http://www.ninds.nih.gov/healinfo/DISORDER/Sturge-Weber/sturge.htm
=
I'm sorry it took so long for the reply. Our pediatric epilepsy specialist has not answered the question, so I'll answer what I can.
Lesions such as you describe can certainly cause seizures, and they can certainly be refractory (that is, not respond to medication). There are a number of brain malformations which can occur in very young children which are not necessarily bad tumors, but are sufficiently irritating to the brain around it that seizures occur. I haven't personally seen enough patients with Sturge-Weber syndrome to report the likelihood of a brain lesion without the overlying birthmark, but I believe it can happen.
I am not sure I'd use the term "calcification" with respect to the images produced by an MRI. There are technical reasons why calcium doesn't show up on MRI (it does on CT, though). One wonders just what the abnormality is, but in any case it is hard to tell without a biopsy. You mentioned a biopsy, so I suppose the tissue abnormality was defined, in which case it might be possible to give you a prognosis and estimate the need for surgical removal of the lesion.
In some (?) fortunate individuals, a lesion is found which is the sole cause of their epilepsy, and it is relatively small, in a region of the brain which would produced little or no damage if it were removed. Most people with epilepsy are not so fortunate. There is either no distinct lesion, or there are several, or it is in an area which would significantly impair a person's function in case of removal. Watch out for occipital lobe lesions: they can produce blindness on one side (not one eye, but rather one side, for example left occipital lesion makes one not able to see with either eye to the right).
The issue is: (1) what is the lesion. (2) is it removable without major damage to function. (3) is there a reasonable possibility that removal of the lesion could permanently eliminate further seizures. (4) has medical therapy been given a reasonable trial and failed.
I hope this clarifies things somewhat for you. If your doctors are still puzzled, you are welcome to request consultation at Cleveland Clinic. Obviously that would involve travel. Our epilepsy staff is very highly regarded, and they have plenty of experience with surgical treatment of refractory epilepsy. CCF has an international office whose job it is to make sure your trip goes as smoothly as possible - they also provide translators (at least in my personal experience). Call 1-216-444-2000 and ask for the international office. If you are in the US, call 800 223-2273 and ask for the international office.
I hope this helps. Sorry it has taken so long to get to the reply. CCF MD mdf.