The visual system manifestations of adrenoleukodvstrophy

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Abstract
The clinical and pathologic findings in a case of adrenoleukodystrophy are documented in this report. The diagnosis was established by an analysis of the gross and microscopic findings (light and electron microscopy) of the adrenal gland and brain. The laboratory evidence of adrenal deficiency coupled with the clinical course supported the diagnosis, The course of the visual loss was initially one of transient loss, later followed by permanent visual loss that was occasionally interrupted by apparent brief spells of partial return of vision. The visual fields were generally depressed without a definite sector defect. The fundi did not show optic atrophy until very late in the course of the disease. Electroretinographic and visual evoked response studies are presented for the first time. The pathology presented in this paper will primarily be that of the visual system. While other publications have presented some gross pathology of the visual system, no systematic presentation of the micropathology has been made. The findings in the optic nerves, chiasm, optic tracts. lateral geniculate bodies, visual radiations, and calcarine cortex were characterized by macrophages swollen with ingested debris, large multinucleated astrocytes, perivascular mononuclear infiltration, and diffuse demyelination. Curvilinear deposits were found in the cerebral macrophages and in the cells of the zona fasciculata and reticularis of the adrenal gland on electron microscopy.

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