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Krabbe's leukodystrophy without globoid cells

From the Departments of Paediatrics (Neurology), Pathology (Neuropathology), and Psychiatry (Kinsmen Laboratory for Neurological Research), University of British Columbia, Vancouver, and Woodlands, New Westminster, B.C., Canada; and the Department of Medicine (Neurology), University of Washington, Seattle.

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.

Reprint requests should be addressed to Dr. Dunn, Department of Paediatrics, University of British Columbia, 715 West 12th Avenue, Vancouver, B.C. V5Z 1M9, Canada.

This work was supported in part by PHS grants NS-09973 and HD-04665 to Dr. Farrell.

Received for publication February 27, 1976.

This article has been cited by other articles:

				H.H. Goebel, K. Harzer, J.P. Ernst, J. Bohl, and H. Klein Late-Onset Globoid Cell Leukodystrophy: Unusual Ultrastructural Pathology and Subtotal {beta}-Galactocerebrosidase Deficiency J Child Neurol, October 1, 1990; 5(4): 299 - 307. [Abstract] [PDF]