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Neurology (Expert Forum)
5yr old w/ seizures? § developmental delays
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5yr old w/ seizures? § developmental delays
by mkbarrow, Nov 06, 2003 12:00AM
Hi~Madi had 2 episodes of partial complex seizures w/ staring and head turning in Aug. 2000 and 1 in Feb. 2001. She was 22mos.old and 28mos. old at those times. All the EEG's were normal. Ever since she was an infant she has been watched b/c of her very large head. I have always said she seems to "stare off" at times. I had her tested in Jan. 2002 and I was told she was developmentally & speech delayed and has hypotonia. She also has birthmarks & is being watched for NF1. At this time, not enough criteria for NF. May 2003 she had a moderately abnormal EEG w/ focal spikeon left temporally and rare spikes elsewhere in the record as well as generalized bursts of spike & polyspike waves during drowsiness & sleep. She also had MRI(normal). Another EEG Sept. 2003 and read the sameway as the May EEG. I was told that it is not a true epileptic reading b/c of the variations of the spikes. the neuro said it is very unusual & had never seen a reading like this. He said we should do nothing at the time & another EEg in 6mos. I would like another opinion about this. Madi is still having delays & fatigues easily. She complains about leg cramps alot. Her genetic dr said she could have a mito disorder. She has also talked about a muscle biopsy. Would you recommend that? She still has a very large head. Any info would be helpful, Thanks~Kim
Doctor's Answer
by CCF-Neuro-M.D.-CS, Nov 08, 2003 12:00AM
Ther are two issues here, the seizures/EEG changes, and the developmental issues. They may be related or unrelated. The EEG reports sound very confusing with both focal and generalized features. To have the seizure issue sorted out I would suggest a consult with a pediatric epilepsy doctor or if one is not available an adult epilepsy doctor who is willing to see kids.
Regarding the developmental issue, it could be several things. The possibilities include mitochondrial disease, muscle disorders, or metabolic disorders to name a few. A muscle biopsy would be helpful in the evaluation, however it needs to be done properly and analyzed very careful.
My recommendation would be to make sure your child is being treated at a large academic center by a pediatric neurologist, and perhaps a pediatric epileptologist. If you are in the area with have an excellent department at the Cleveland Clinic.
Regarding the developmental issue, it could be several things. The possibilities include mitochondrial disease, muscle disorders, or metabolic disorders to name a few. A muscle biopsy would be helpful in the evaluation, however it needs to be done properly and analyzed very careful.
My recommendation would be to make sure your child is being treated at a large academic center by a pediatric neurologist, and perhaps a pediatric epileptologist. If you are in the area with have an excellent department at the Cleveland Clinic.
Member Comments (2)
by awolm2, Nov 11, 2003 12:00AM
To: : mkbarrow
If you don't mind could you email me my daughter is having some of the same syptoms (symptoms). Email addy is ***@**** thank you for your time..
