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Have symptoms of absence seizures, MRI negative, blood work normal. Jerking motions, hand contorted. Help

Nov 2013
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Practicing since : 1994
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We have taken our son (20 years old) who had all the symptons of absence seizures, yet the doctors at Strong Memorial Hospital diagnosed him with Dystonia. He was placed on carbatrol 600 mgs. per day (3/100 in the morning and 12 hours later, 3/100 mg). Our son had none of the symptoms of Dystonia. He has been on the medication for three weeks and is getting worse, longer and more intense seizures. We are slowly getting him off of the carbatrol. The doctors at Strong now admit they have no idea what is wrong with our son. His MRI was negative, he has perfect blood work (checked his kidneys, liver, and thyroid) all normal. Three EEG's all normal, and frustrated I took him to Strong for a 24 hour EEG and they videotaped and say the seizures. They say he does not have Abscense seizures, but the carbatrol made his seizures much worse. They were 15 seconds to a minute and now last for 15 minutes or more. He basically stands still but will walk, he does not fall down or bite his tongue. He has jerking motions with left hand contorted, his eyes closed, and he makes gutteral sounds, his body is stiff and rigid and he growls if you touch him. He is exhausted after and sweats like he has run a mile. My husband had a couple of valium, and it actually helped him a bit by the reduction of the seizure (severity) and the length..but no one will listen to us to give us a prescription. He has 30 or more a day. He has never had any head injury, illness, and the only time he was in the hospital was to remove a birthmark on his head when he was 16 years of age. He is not stressed other than that he cannot drive and he is so exhausted after the seizure. No one is helping us and we have another appointment with a neurologist at another smaller local hospital. The Strong neurologists (Rochester, NY) have said they have no idea and will have to ask some other neurologists, but we have no date for this. We are hoping there is someone out there that has seen this seizure that is not Dystonia (medication doesn't work) and that the doctors have said is not Absense seizures. Int the beginning of the seizure period (about 6 months ago) he had every symptom of Absence seizures. He cannot live like this. He has always been in perfect health, and this came out of nowhere. He has never been an anxious person, always happy, and still very happy when he is not having a seizure.
Posted Sun, 9 Sep 2012 in Brain and Spine
Answered by Dr. Sudhir Kumar 1 hour later
Thank you for writing in.
I can understand the agony in you parents after your son is not properly diagnosed and treated. It is sometimes difficult to make a diagnosis of epilepsy and differentiate it from other movement disorders especially dystonia (which could also be episodic). However, the diagnosis of epilepsy is made on the basis of clinical description. Based on the description of episodes as you have provided (I must admit you have given an excellent description!), the most likley diagnosis is epilepsy. One should remember that both MRI and EEG may be normal in more than 50% cases of epilepsy too.
I think your son needs to be started on anti-epileptic drugs and the drug most likely to benefit him would be sodium valproate (depakote).
I hope the next neurologist is able to make a correct diagnosis so that your son (and the entire family) can have a better quality of life.
Please keep me informed about further diagnosis/treatment and get back if you have any more queries.
Best wishes,
Dr Sudhir Kumar MD DM (Neurology) XXXXXXX Consultant Neurologist
Apollo Health City, Hyderabad
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