Pediatric Neurology

    
      Re: Pediatric Neurology
    


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Posted by CCF Neurology MD on September 19, 1997 at 01:16:57:

In Reply to: Pediatric Neurology posted by Louis Desjardins on September 12, 1997 at 10:45:21:

: My nephew will be three in January, 1998. He is unable to walk or talk.
  He took a few steps and said a few words at about one year of age. His
  family physician said there was no problem. At 18 months he was referred
  to a pediatric neurologist. He also said there was nothing to worry about.
  Now he has been put through a barrage of tests beginning about 6 months.
  (MRI, EEG, blood tests, etc.) The MRI, which was scheduled for six months
  after being ordered, was moved up when a resident noticed atrophy in the
  optic nerve. The neurologist said there was evidence of cerebellar atrophy
  and mitochondrial disease from the MRI. Genetic testing has begun. The
  pediatric neurologist thought it might be an incurable leukodystrophy
  then changed his mind. So eighteen months have passed with no diagnosis
  and the pace of the investigation is slow. Can you suggest what should be
  done and where?
=============================================================================
Dear Louis:
You clearly describe regression in your question. This suggests that your nephew may indeed have a neurodegenerative problem, such as a leukodystrophy, among others. The metabolic causes of several degenerative disorders, specially leukodystrophies, have been determined. Also, efficacious therapies for these otherwise relentless diseases have been found. These include dietary measures, special medications, and even very aggressive measures such as bone marrow transplants. The latter measure, importantly, is highly effective in some leukodystrophies, specially if used early in the course of the disease. Since permanent damage can occur with disease progression, it is never too early to completely work up a case. In fact, this may nearly be an urgent priority.
I strongly feel that the parents should discuss these matters with the treating pediatric neurologist, and if not satisfied, should urgently seek a second opinion from another pediatric neurologist with a special interest and experience in neurodegenerative conditions, who has all the testing and treatment options available to him in his institution.
In case your nephew lives near the Cleveland area, he and his parents are welcome to see any of the pediatric neurologists at the Cleveland Clinic. I can specially recommend Dr. Bruce Cohen, Dr. David Rothner, and Dr. Gerald Erenberg, who have a special interest in these problems. The number to call for appointments is [phone], or [phone] toll free.
Good luck!