Magnetic Resonance Imaging

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CT scan findings include hypodensity of the cerebral white matter and globus pallidus. Mildly increased density of the thalami has been reported.

The MR images obtained in a fucosidosis patient show symmetrical white matter abnormalities. In some patients, the white matter signal behavior on Tr and T2-weighted images is suggestive of moderate hypomyelination: the white matter is mildly hyperin-tense on both Tr and T2-weighted images (Fig. 12.1). In other patients, however, the white matter has in some parts a higher signal intensity on T2-weighted images than is usual for hypomyelination, and its signal on Tj-weighted images is low in places, suggesting myelin loss (Fig. 12.2). The subcortical U fibers, internal, external, and extreme capsules, and cerebellar white matter also have an abnormal signal intensity. The corpus callosum is normal in signal, but may be thin. The cerebral white matter may have a decreased volume with enlarged CSF spaces. The internal medullary laminae of the thalamus and in some cases the lateral and medial medullary laminae of the globus pallidus and hypothalamus have a high signal on T2-weighted images. The globus pallidus, thalamus, and substantia nigra tend to have an abnormally low signal on T2-weighted images. Cerebral and cerebellar atrophy may be seen and may be marked, especially in older patients.

The involvement of a combination of cerebral hemispheric white matter, globus pallidus, and thalamus is reminiscent of Canavan disease and later-onset variants of maple syrup urine disease, but in the latter two conditions the white matter is swollen, whereas it is reduced in volume in fucosidosis. The images show resemblance with the pattern observed in infantile GMi and GM2 gangliosidoses, although the hypointensity of central brain nuclei on T2-weighted images is not seen in the latter disorders.

Nigra Thalamus

Fig. 12.1. The cerebral white matter in this 4-year-old patient with fucosidosis has a high signal on both T1- and T2-weighted images, suggestive of moderate hypomyelination.The globus pallidus, thalamus, and substantia nigra have a strikingly high signal on T1-weighted images and low signal on T2-weighted images. Courtesy of Dr. S. Blaser, Department of Diagnostic Imaging, Hospital for Sick Children,Toronto

Mri White Matter Gliosis Child

Fig. 12.2. Part of the cerebral white matter in this 7-year-old patient with fucosidosis has a high signal on both Tr and T2-weighted images, suggestive of moderate hypomyelina-tion, but parts of the deep cerebral white matter have a higher signal on T2-weighted images and a low signal on Trweighted images,suggestive of myelin loss. Note the signal

Krabbe Disease Myelin Loss

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