Krabbe's disease

(Knud H. Krabbe,1885 - 1961, Danish neurologist), neurodegenerative disease associated with lysosomal galactocerebroside galactosidase deficiency. It is one of the leucodystrophies. Infants present clinically with irritability, pyrexia of unknown origin, hypertonia, feeding difficulty, or fits and progressive quadriparesis, become decerebrate and microcephalic. On imaging there is high signal intensity on the periventricular and cerebellar white matter on T2-weighted sequences. See globoid cell leukodystrophy

HC