devastating neurological problems in toddler

[Elaine-Olivier]

    
      Re: devastating neurological problems in toddler
    


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Posted by CCF Neurology MD on October 07, 1997 at 00:52:59:

In Reply to: devastating neurological problems in toddler posted by Elaine Olivier on October 04, 1997 at 05:49:15:

: My little son is 4 years old, he has extensive calcification of the brain,severe kypho-scoliosis,protruding chest and rib cage which comes to a point.spasticity in all limbs,dysphagia,he aspirates almost continually,I Naso gastric tube feed him for 5 day's and give him 3-4 day's break inbetween to get a break. He eats pureed veg's and meat a little. He is not thriving at all and reacts very badly to honey,and high sugar, he gets very chesty and chokes on phlegm and brings up 2-3 times every day. He can't tolerate dairy for the same reason. He has Lactic Acidosis and his amino acids serum levels are all high. He has a metabolic disorder of some kind but the doctor;s are unables to tell me what. he has sparse hair growth, teeth development are delayed and his teeth are rotting from the continual gastric reflux acid in the mouth. My question is, could he possibley have a fructose problem or carbohyfrate or could it be an amino  acid problem, he seems to be able to tolerate egg yolk. He is extremely lethargic and is deteriorating every day, He is on Isomail, a soya formula, he gets 400 mls a day and 100-200 water, which is not enough. I love my little son so very much and am doing every thing I can to help him. He is non verbal,no crying at all, no laughing ever. He smiles a little. He has episodes during the day where he goes very stiff and rigid and shakes almost like clonus, I don't think it's a tonic seizure of some sort because I can always stop this buy holding and comforting him. I would really appreciate any help or advice. Thank you.  
  Elaine
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Dear Elaine:
I can understand your anxiety and concerns. As you doubtless know, inherited metabolic disorders of childhood can be incredibly difficult to diagnose. This is because they are of numerous types (representing a deficiency of many of the several known enzymes), extremely rare, and poorly characterised. Also, several disorders are at this time unrecognised, or not described. Thus, it is quite common for children with an apparently metabolic disorder to goes undiagnosed.
Diagnosis is critically important because specific efficacious therapeutic measures exist.
As a rough estimate, from your description, the major groups of disorders I would be most concerned about are disorders of pyruvate metabolism, mitochondrial encephalomyopathies, and organic acidurias. Your pediatric neurologist must have surely looked for these.

I feel it would be worthwhile to have your son assessed by a pediatric neurologist with special expertise in metabolic disorders, who works in a reputed academic institution equipped with state-of-the-art work and research labs dedicated to metabolic disorder diagnosis and research.
In case you live near Cleveland, I recommend an assessment by Dr. Bruce Cohen, who has a special interest in this area.
This information is provided for general medical education purposes only.