globoid cell leukodystrophy


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glo·boid cell leu·ko·dys·tro·phy

[MIM*245200]
a metabolic disorder of infancy or early childhood characterized by spasticity, seizures, and rapidly progressive cerebral degeneration, massive loss of myelin, severe astrocytic gliosis, and infiltration of the white matter with characteristic multinucleate globoid cells; metabolically there is gross deficiency of lysosomal cerebrosidase (galactosylceramide β-galactosidase); autosomal recessive inheritance, caused by mutation in the gene encoding glycosylceramidase (GALC) on 14q.

globoid cell leukodystrophy

Krabbe's disease Neurology An AR defect in sphingolipid metabolism due to galatocerebroside β-galactosidase deficiency, resulting in in utero demyelinization, and death in early infancy Clinical Spastic paralysis, seizures, pyrexia, vomiting, cortical blindness, deafness, dysphagia, pseudobulbar palsy, quadriplegia, mental deterioration Management CNS disease may be reversed by allogeneic hematopoietic stem cell transplantation. Cf Leukodystrophy.

globoid cell leukodystrophy

An autosomal recessive disease caused by a deficiency of the lysosomal enzyme galactocerebrosidase. It features failure of myelination and demyelination in the entire nervous system and, in the infantile form, death usually before two years of age. Injection of donor umbilical cord blood before the onset of symptoms has been found helpful.

Krabbe,

Knud Haraldsen, Danish neurologist, 1885-1961.
Christensen-Krabbe disease - see under Christensen
Krabbe disease - a metabolic disorder of infancy. Synonym(s): globoid cell leukodystrophy

globoid cell leukodystrophy

see globoid cell leukodystrophy.