Krabbe's Leukodystrophy (Globoid Cell Leukodystrophy)

Abstract

KRABBE'S leukodystrophy or globoid cell leukodystrophy (GLD) is a familial neurological disorder of early infancy characterized clinically by tonic seizures, generalized convulsions, spastic quadriplegia, cortical blindness or optic atrophy, deafness, pseudobulbar palsy, and a rapidly progressive course. Its pathological picture is unique because the disease process is confined almost entirely to the central nervous system and is characterized by the accumulation of epithelioid and globoid cells, marked paucity of myelin, and severe gliosis of white matter. Biochemical analysis reveals an increase in the ratio of cerebroside to sulphatide, although glycolipids as a whole are reduced in the cerebral white matter.^1,2This excessive accumulation of cerebroside in the white matter, particularly in globoid cells, presumably is due to deficient cerebroside sulphotransferase activity.³ There are several histopathologic and histochemical studies of GLD^4-8but only one ultrastructural body of GLD has been performed by Nelson et al.