Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features

R. J. Uitti, J. R. Donat, B. Rozdilsky, R. J. Schneider and A. H. Koeppen
Department of Clinical Neurological Sciences, University of Saskatchewan Hospital, Saskatoon, Canada.

A family had a dominantly inherited amyloid angiopathy that involved the meninges of the brain and spinal cord, retina, vitreous humor, peripheral nerves, and systemic organs. Clinical features included hemiplegic migraine, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, deafness, and peripheral neuropathy. Pathological findings consisted of amyloid deposition in the leptomeningeal and retinal vessels, in the vitreous humor, and in perivascular tissue throughout the body. Evaluation of the amyloid showed it to be a transthyretin (prealbumin). A brief course of plasmapheresis produced a short-lived decrease concentration in circulating transthyretin.

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