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Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome

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Summary

We have correlated the clinical and histopathologic features of the eyes and central nervous system in a patient with Hallervorden-Spatz syndrome who died at age 11 years. The main ocular findings included degeneration of photoreceptors, marked thinning of the outer nuclear and outer plexiform layers, retinal gliosis, narrowing and obliteration of blood vessel with a perivascular cuffing of pigment cells, and degenerative changes in the retinal pigment epithelia cells with accumulation of melanolipofuscin. The positive findings in the brain included a symmetrical, partially destructive lesion of the globus pallidus, especially in its internal fibers and neurons; in addition, we noted gliosis, widely disseminated axonal spheroidal bodies, which were most numerous in the globus pallidus and pars reticulata, as well as deposits of iron. Our histopathologic findings implicate three possible mechanisms, namely, lipid peroxidation, a deficiency of fatty acid membrane components, and increased cGMP which, either singly or in combination, are responsible for a pathogenesis that is common to the eye and brain in Hallervorden-Spatz syndrome.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Science, Visual Science Center, The University of Chicago, 939 East 57th Street, 60637, Chicago, IL, USA

    R. C. Tripathi, B. J. Tripathi & J. K. Park

  2. Section of Neuropathology, Scott and White Clinic, Temple, Texas, USA

    S. C. Bauserman

  3. Texas A and M University College of Medicine, Temple, Texas, USA

    S. C. Bauserman

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  1. R. C. Tripathi
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  2. B. J. Tripathi
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  3. S. C. Bauserman
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  4. J. K. Park
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Supported in part by awards from the Research to Prevent Blind ness, Inc. and the Vision Research Foundation

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Tripathi, R.C., Tripathi, B.J., Bauserman, S.C. et al. Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome. Acta Neuropathol 83, 113–119 (1992). https://doi.org/10.1007/BF00308470

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  • DOI: https://doi.org/10.1007/BF00308470

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