PLEASE HELP!!!!!!!!!!!!!

[SelmaP]

Persistently looking for the place where the forum can be to write about something that interested me, whether anybody has any kind of response. We are desperate! We have three children, boys of 16 and 5 years and the little girl, who is 28 months old. Ana was born 14 March 2007, in Dodge City, KS, USA.
Born as a healthy baby, was never sick, developed normally.
All of the overturned "upside down" in her, and our lives, in mid-December last year. Began to vomit, secrete a lot of saliva during sleep, had a dense nasal secretion. All of this lasted 10 days. Doctor said it  will pass, that is a virus ...... Then it gradually started to show signs of fatigue and "losing" tone muscle. When I contacted the doctor, he said again that it does not need to bring her in, if there is no temperature, that will pass.
One morning when she woke up, I noticed a light "twiches"of her tip of tongue and 4 toes on her right foot, that fasculateted constantly, except when she goes to sleep, then would disappeared. Now I schedule an examination by doctors. After the review, said that he did not know what could be scheduled with an overview of child neurology. The following day has been given "an attack", we meant that some allergic reactions, but it proved, that the doctors said they had "great convulsion" of 4 hours duration (status epilepticus). was urgently transferred by plane to a larger center, and after 9 days the same, they could not find nothing "wrong "..... its tremors they began to multiply on the lips and fingers right arm and right leg towards the knee. From January to this date(july) she was 6 times in the hospital ........... they did all the genetic, toxicological, neurological, metabolic, infectious tests ... but nothing  find wrong again..

[Neuro Forum]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with your doctor.

Without the ability to examine your child and obtain a history and review the testing, I can not tell you what the exact cause of the symptoms are. However I will try to provide you with some useful information.

It is difficult for me to understand the exact nature of the muscle twitching your daughter is having, they could be myoclonus (if they are sudden jerks) for which there are many causes including epilepsy, anoxia (lack of oxygen to the brain), and metabolic disorder, to name a few. It also sounds like she has in addition to these twitches prolonged episodes of seizures, in addition to developmental arrest and some regression.

At this point, while it sounds like she has already had a lot of testing, the possibilities for what is going on with her are still many, but do still include genetic problems, metabolic problems, mitochondrial problems, and lack of oxygen to the brain (anoxia). These are but a few  possibilities.

For children for which there is a sudden change in condition (i.e. children who developed normally then regressed), in utero problems or birth related injuries are less likely.

For children such as your daughters, in which a diagnosis may be difficult to arrive to, it is important to be evaluated at a center that has the capabilities and expertise to diagnose such cases.  Evaluation at a tertiary care hospital (a large academic center with a good reputation that has specialists in various fields) is important. She would benefit most form evaluation by both a pediatric neurologist, a metabolic specialist, and maybe a genetic specialist, as well as a pediatric epileptologist.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[SelmaP]

She had her MRI, LP, CT, MIBG, EEG, muscle and skin biopsy..and nothing wrong. In April it happened again, "big attack", which again ended 4 hours convulsions (status epilepticus), and again the plane moved to another larger center, and again are still there doing a search, but nothing was found. From April, she can't stand,, do not walk, do not sit, because the last convulsion was drained her completly out. She has her appetite, eat well, but she is not gaining any weight ............. doctors say that she is in a very serious situation and that may not survive.We are, of course desperate ........... we are not satisfied, because we have no diagnosis for it, and thus there is no adequate treatment. U.S. medicine is failed, but it is not clear to me that in addition to such a precise technology that was used to test our daughter, they couldn't find nothing. We left to please the people, like you to help us to see, to try to say to us, and give any further information about the health of our little girl. Please try to help !!!!!!!!
I believe that somewhere, someone there HAS to be who has heard or seen something similar, and that can help.
We thank you for any respond!


I forgot to say that the flicker( tremor, fasculation) of her tongue, lips, fingers on hand, right foot and left hand are constant, except when she is sleeping, everything disappears. Moment when she is awaking, flickering starting again and it is so constantly in the last 6 month