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Mark B. Bromberg, MD, PhD; Larry Junck, MD; Stephen S. Gebarski, MD; Michael J. McLean, MD, PhD; Sid Gilman, MD

Arch Neurol. 1990;47(11):1239-1242.

Abstract
• The Marinesco-Sjögren 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-Sjögren 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-Sjögren syndrome.

Author Affiliations
From the Departments of Neurology (Drs Bromberg, Junck, McLean, and Gilman) and Radiology (Dr Gebarski), University of Michigan, Ann Arbor. Dr McLean is now with the Vanderbilt University Medical Center, Nashville, Tenn.

Footnotes
Accepted for publication March 26, 1990.

Reprint requests to the Department of Neurology, University of Michigan Medical Center, 1920/0316 Taubman Center, 1500 E Medical Center Dr, Ann Arbor, MI 48109-0316 (Dr Bromberg).

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