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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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