The Marinesco-Sjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography
M. B. Bromberg, L. Junck, S. S. Gebarski, M. J. McLean and S. Gilman
Department of Neurology, University of Michigan, Ann Arbor.
The Marinesco-Sjogren syndrome is an autosomal recessive degenerative
disorder characterized by congenital cataracts, cerebellar ataxia,
spasticity, mental deficiency, and skeletal abnormalities. We studied two
adult siblings with Marinesco-Sjogren syndrome using anatomic and metabolic
brain imaging techniques to characterize the pattern and nature of
abnormalities in the brain. Computed tomographic and magnetic resonance
imaging showed diffuse brain atrophy of mild to moderate degree, involving
primarily the white matter of the cerebrum, cerebellum, brain stem, and
cervical spinal cord. The pattern of atrophy resembled that seen in diffuse
leukoencephalopathies. Measurements of local cerebral glucose metabolic
rates with positron emission tomography revealed no statistically
significant differences from normal control subjects in most regions, but
metabolic rate was decreased in the thalamus in one patient. The findings
support a diffuse white matter disorder in Marinesco-Sjogren syndrome.
