Krabbe's leukodystrophy without globoid cells

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Abstract
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 yr 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 yr 10 mo. showed severe leukodystrophy with dymyelination 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 EM 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.