When he was born, the best neurologists in Europe said he would not live longer than 15 months. In-depth investigation took place in 1993 at the Yale School of Medicine, Department of Genetics. Prior to this investigation, metabolic evaluation has included electrolytes, pH, ammonia, plasma amino acids and urine organic acid. The organic acids showed some dicarboxylic aciduria but no other abnormalities. There are no abnormal areas of signal intensity identified.
Mild hydrocephalus is noted.
There are no intra nor extra-axial abnormal fluid collections identified. The paranasal sinuses are well aerated. No white matter nor mass lesions is identified. While these do not exclude all metabolic causes, we feel that the most likely disorders have been eliminated including disorders of amino acids metabolism, lysosomal storage disorders, disorders of fatty acid oxidation, and disorders of peroxisomal function. The increased fluid space around the brain may be a reflection of the rate of growth of the brain relative to the skull but in itself does not pinpoint a specific cause for this discrepancy.