Menkes' syndrome with vascular and adrenergic nerve abnormalities

Using the formaldehyde-induced fluorescence method, we found a peculiar rosary-type swelling of the adrenergic axons in the peripheral nerves, deficiency of the perivascular adrenergic plexuses in the visceral and cerebral arteries, and reduction of noradrenergic fluorescence in the tegmental and hypothalamic regions of a 3-year-old boy who had typical Menkes' syndrome (kinky hair syndrome). The nigrostriated neurons retained moderate intensity of fluorescence compared with those in postmortem (control) brains. Histologically, marked dilatation of the visceral, meningeal and cerebral arteries were noted. Copper deficiency, the cause of this disease, induces failure of central and peripheral noradrenergic neurons and leads to abnormal vasodilatation.