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The cellular pathology of Menkes steely hair syndrome

Eunice Kennedy Shriver Center for Research in Mental Retardation, Inc., Waltham, Massachusetts; the Departments of Neurology and Neuropathology, Harvard Medical School; and the Massachusetts General Hospital, Boston.

The principal neuropathologic abnormality observed in three autopsy cases of Menkes steely hair syndrome was widespread nerve cell loss and gllosis, especially severe in the cerebral and cerebellar cortex and in the relay nuclei of the thalamus. Granular stellate cells of neocortical layer IV and the granule cells of the cerebellum are cell classes which were particularly severely depopulated. The degree of reduction of myelinated axons is consistent with axonal degeneration secondary to nerve cell loss. There are also prominent abnormalities in the patterns of dendritic arborization of surviving cortical pyramids and cerebellar Purkinje cells as seen in Golgi impregnations. The deviant neuronal forms are probably due, in part, to failure of innervation by afferent fiber systems during the fetal as well as postnatal epochs.

Dr. Williams's address is the Eunice Kennedy Shriver Center for Mental Retardation, Inc. at the Walter E. Fernald State School, 200 Trapelo Road, Waltham, MA 02154.

This research was supported in part by USPHS grant 1 RO1 NS12005-02, and by the Joseph P. Kennedy, Jr., Memorial Foundation.

Presented in part at the twenty-ninth annual meeting of the American Academy of Neurology, Atlanta, April 29, 1977.

Accepted for publication November 14, 1977.

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