Neuroimaging findings of four patients with Sandhoff disease


Yuksel A., Yalcinkaya C. , Islak C. , Gunduz E., Seven M.

PEDIATRIC NEUROLOGY, cilt.21, ss.562-565, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 2
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1016/s0887-8994(99)00041-7
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.562-565

Özet

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