Neuroimaging findings of four patients with Sandhoff disease

Sandhoff disease is a severe form of GM, gangliosidosis that is caused by t he deficiency of both hexosaminidase A and B, Startle reaction, hypotonia, psychomotor retardation, and blindness are the main clinical features. Pres ented are computed tomography and magnetic resonance imaging findings of fo ur patients with Sandhoff disease diagnosed by enzymatic analyses, Bilatera l homogeneous thalamic hyperdensity was evident on computed tomography, Mag netic resonance imaging scans revealed mild cortical atrophy, a thin corpus callosum, and abnormal signal intensities in the caudate nucleus, globus p allidum, putamen, cerebellum, and brainstem, No correlation was evident bet ween the severity of the central nervous system imaging findings and the cl inical pictures. In this article the neuroimaging findings of four patients with Sandhoff disease are discussed, (C) 1999 by Elsevier Science Inc. All rights reserved.