Infantile Myoclonic Epilepsy

[Paul-Copeland]

  Hello from Australia.
  Our foster child was diagnosed with Infantile Myoclonic Epilepsy only a few weeks after birth. 36 hours after birth he started having seizures.
  Grant, our foster child is now 10 years old and severely developmentally delayed. He is in a wheelchair.
  When we started caring for him (at 12 months), he was having about 13 bad seizures a day and 100's of severe myoclonic jekrs causing him to cry. He was also on a lot of medication which had absolutely no effect in controlling his seizures. His neurologist said in correspondence to another doctor that he expected Grant to live perhaps for 1 or 2 years.
  My question is a simple one.
  Where could I get information (preferably on the internet) about this extremely rare form of brain injury?
  Many thanks for you assistance.
Dear Paul:
You are to be congradulated on doing such a wonderful job with your foster child.  It always saddens me to hear of such cases.  What sort of work up has your foster child had thus far?  Most of the time when we see progressive myoclonic seizures and encephalopathy we think that there must be some sort of metabolic, extreme genetic, or structural abnormality.  One tends to think of neurocutaneous syndromes such as incongenita pigmentosa or tuberous sclerosis, genetic diseases such as triple repeat disorders or trisomies such as 13, or 18, or major structural abnormalites such as prosholoencephaly.  There are some mitochondrial disorders that can also present as you describe, such as MERRF.  What you will find in most epilepsy textbooks is mention of progressive myoclonic seizures and encephalopathy and that will be it.  To really understand the problem, one has to know the etiology of why your foster son is having seizures and developmental delay.  One you think you know the etiology, then that is what you
would do your library or internet search on.  Best of luck.  Let us know if we can be of further help.
Sincerely,
CCF Neuro[P] MD, RPS