Abstract
Summary
Serial biochemical serum and cerebrospinal fluid (CSF) studies in 7 cases of Amaurotic Family Idiocy (AFI) disclosed some statistically significant variation from normal values. Two additional control cases of dissimilar degenerative neurologic illnesses of childhood were also included as control cases. In AFI an elevation in serum electro-phoretic alpha-2 globulin fraction was found. Decreased values for serum total protein and albumin, together with markedly depressed gamma globulin results were observed. Serum alpha-1 and beta globulins and A/G ratio findings were normal. Chemical studies of CSF proteins showed decreased alpha and gamma globulins and gamma globulin/total protein ratio values. Serum neuraminic acid was consistently elevated in AFI, as well as in the 2 control cases, when compared to normal values established in this laboratory. Decreases in serum total, neutral and phospholipids were recorded in AFI. A decrease was also observed in serum free cholesterol values. The results in AFI differed from the 2 control cases of degenerative central nervous system disease most markedly with respect to lowered alpha and gamma globulin content of the CSF and with regard to decreased serum total lipids and phospholipids.
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