Have Symptoms Of Absence Seizures, MRI Negative, Blood Work Normal. Jerking Motions, Hand Contorted. Help
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