Optic Nerve Enlargement in Krabbe’s Disease

Summary: We report imaging and gross pathologic find-ings from two cases of Krabbe disease in which there was marked enlargement of the intracranial optic nerves. Nu-merous globoid cells were observed in the optic nerves at autopsy in one case. Krabbe disease should be included in the differential diagnosis of children with enlargement of the optic nerves. Krabbe’s disease (globoid cell leukodystrophy) is a disorder of lysosomal function that results in ac-cumulation of galactocerebroside and psychosine in macrophages and is associated with demyelination and dysmyelination of cerebral white matter. Pre-viously described imaging findings with Krabbe’s disease include foci of increased attenuation on CT scans early in the disease, patchy foci of abnormal signal in the white matter on MR images, and white matter volume loss later in the disease. We present two cases of Krabbe’s disease in which there is striking enlargement of the optic nerves in associ-ation with foci of abnormal signal on MR images. Histologic analysis of one of the cases shows the enlargement to occur because of the presence of numerous globoid cells