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Paediatric Imaging

Globoid cell leukodystrophy

(also called Krabbes disease), an autosomal recessive disorder caused by deficiency of the lysosomal enzyme, galactocerebroside beta-galactosidase which results in destruction of oligodendrocytes. The condition presents in the first 3 to 6 months of life with irritability, intermittent fevers, feeding difficulties, hyperactive reflexes and developmental delay. Though the definitive diagnosis is made by assay of the enzyme from skin fibroblasts or leukocytes imaging may be helpful.

The typical CT appearance is hyperdensity in the thalami, caudate nuclei, corona radiata and cerebellar dentate nuclei which is caused by fine calcification. This may be seen before or in conjunction with decreased attenuation in the white matter. The white matter changes are best seen on MRI where T1 and T2 prolongation is seen in the deep cerebral and cerebellar white matter and dentate nuclei. The parietal lobes may be affected early with extension into the splenuim of the corpus callosum and posterior limb of the internal capsule. Signal in the thalami may be normal or show decreased T1 or T2 relaxation. As the disease progresses diffuse white matter atrophy occurs. Death occurs in the first few years of life.

EP