Are we missing someting

[sonw/specialneeds]

My son is 3&1/2 has dx of DD,DLD (oral/motor dyspraxia), generalized seizure disorder, and low tone int trunk & arms. He has had an MRI, 3 EEGs, amino and organic acids (several times), Chomasonal analisis, every fish test known, fragil-x, We are going to fallow up on 10 jun, and probably do a 24 hour EEG to see if we can get some insite into what type of seizures he is having. We know he is having atypical abcent, and I think clonic. they are so suttle you do not see them. Is their anything I should specificaly ask his neurologist. We are doing another MRI in aug. 12 mo. from the first to compare the mylin. He is short statue just under 3% very happy and well mannered. His total development is scattered 18-24 mo. If you have questions I will be glad to answer if it helps me get mor info. Besides the violant outburst and sleep problems he seems to have all the symptoms of SMS. But that would have shown on the latest fish test. I've also questioned Lennox-gastaunt syndrome. If you have any other thaughts or ideas I'd love it. Thank you so much

[CCF-Neuro-M.D.-JT]

Very sorry to hear about your son. Depending on what other seizures your son has and the pattern on EEG, this could certainly represent Lennox-Gastaut syndrome. There are numerous congenital disorders that this could represent some that you can test for and others that are based on the clinical historyt and exam, but one possibility that you haven't mentioned testing for is a mitochondrial disorder which can present with hypotonia and seizures. THis is can be evaluated with a muscle biopsy and laboratory testing for lactic acid. Many of these children (depending on which mitochondrial disorder) can have short stature. Finally, the MRI may also provide some clues as to a possible metabolic disorder this may represent. Sounds like you're doing the best you can for him and being aggressive in his care. Best of luck to you and your family.

[sonw/specialneeds]

I forgot to mension he is on topamax sprinkles 45mg. 2x daily. Which is still a small dose from my understanding. His last EEG came back abnormal still. His speach has improved since he has been on the meds. gone from 12 words to about 65-70 words in 3 months. He also had a normal EMG with one abnormal spontanious CRD(I think thats what they called it) in his left bicep and we are waithing on his pyruvates and another that starts with an A. His doctor wants to give him a break till the 10th then we will discuss the video EEG and medications. Will he always have abnormal EEG or that is just a big guess?

[sonw/specialneeds]

Sorry I reviewed his records and EEG report and it istypical abcent seizures not atypical. And he just has lots of other weird spells.

[sonw/specialneeds]

We had a hard week and took a trip unexpectedly to his ped. neuro. today. He said the good news is his brain is developing but the bad news is his seizures are getting worse. He has had no convalsive seizures but yet his EEG are getting worse. He has had his polysacorroids checked before and were fine. They are testing him for Sanfilippo syndrome. There they testsomething very simular. Is it a futher indepth test then the other? He is now on topamax and clonazapam. I can give you word for word on his EEG if needed and any of the labs. Thank You So Much