= KRABBE DISEASE

= autosomal recessive neurodegenerative disorder characterized by severe myelin loss + globoid cells in white matter

Cause: deficiency of galactosylceramide β-galactosidase → cerebroside accumulation + destruction of oligodendrocytes

Age: 3–6 months

• fever, hyperactive reflex, flaccidity, irritability, restlessness
• optic atrophy, hyperacusis

Lesion location: thalami, posterior limb of internal capsules, caudate nuclei, brainstem, cerebellar dentate nuclei, centrum semiovale

• symmetric hyperintensity / hyperdensity in periventricular white matter, thalami, basal ganglia, dentate + caudate nuclei, corona radiata
• decreased attenuation of white matter
• brain atrophy with enlargement of ventricles

MR spectroscopy:

• elevated choline + creatine + myo-inositol associated with moderate N-acetylaspartate

Dx: biochemical assay from white blood cells / skin fibroblasts

Prognosis: death within first few years of life