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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. |
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ataxia,cerebellar brainstem,atrophy CAT scan CAT scan,abnormal CAT scan,emission CAT scan,emission,abnormal cataracts cataracts,congenital cerebellar ataxia,children cerebellar atrophy,primary cerebellar atrophy,secondary cerebral cortical atrophy degenerative diseases of CNS foot deformity genetic neurologic disorders Marinesco-Sjogren syndrome mental retardation MRI MRI,abnormal myelomalacia spasticity white matter disease
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