General description

Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme galactocerebrosidase. This deficiency damages oligodendrocytes in the central nervous system and Schwann cells in the peripheral nervous system, leading to demyelination and resulting in both central and peripheral neuropathy. Additionally, accumulation of psychosine, a toxic substrate, contributes to cell damage.

Krabbe disease can be categorized into three forms: an infantile form, which develops before the age of 2; a juvenile form, which develops between ages 2 and 20; and an adult form, which develops after the age of 20. The severity and progression vary with age, with infantile forms being the most severe.

Radiographic features

Cerebral lesion

On T2WI and FLAIR, Krabbe disease is characterized by bilateral hyperintensity in the precentral gyrus, parieto-occipital deep and periventricular white matter, and corticospinal tract. The body of the corpus callosum and cerebellar white matter may also show hyperintensities. Typically, there is no enhancement with contrast agents.