Krabbe's leukodystrophy without globoid cells.

Krabbe's infantile cerebral sclerosis with a prolonged course was present in a boy who became increasingly hypertonic during infancy and had an increased protein level in the spinal fluid. At 4 years he showed significant growth failure, profound mental retardation, spastic quadriplegia, bilateral optic atrophy, and depressed tendon reflexes. Conduction velocity in motor fibers of the median nerve had become progressively impaired. Autopsy at 5 years 10 months showed severe leukodystrophy with demyelination and gliosis. No stored breakdown products or globoid cells were seen in the brain. Galactosyl ceramide beta-galactosidase was virtually absent, and hardly any myelin was demonstrable on chemical and electron microscopic studies. The presence of globoid cells may not be essential for the pathologic diagnosis of Krabbe's leukodystrophy in the presence of appropriate enzyme deficiency.

Estimation of branched-chain alpha-keto acids in blood by gas chromatography.

Plasma or whole blood is treated with o-phenylenediamine dihydrochloride in phosphoric acid under conditions found spectrophotometrically to give maximum yields of the quinoxalinols. The quinoxalinols are extracted and, after removing phosphoric acid, etc., silylated with bis-trimethylsilyltrifluoracetamide in acetonitrile. Other solvents caused instability of the trimethylsilyl(TMS)-quinoxalinols. Gas chromatography on a packed column of trifluoropropyl silicone gave good separation of the TMS-quinoxalinols from one another and from other substances derived from blood. Some representative values for normal arterial and venous human and canine plasma are reported.