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

Arch Neurol. 1988 Oct;45(10):1118-22. doi: 10.1001/archneur.1988.00520340072015.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arachnoid*
  • Brain / pathology
  • Central Nervous System Diseases / complications
  • Central Nervous System Diseases / genetics
  • Central Nervous System Diseases / pathology
  • Cerebral Hemorrhage / etiology
  • Diseases in Twins
  • Eye Diseases / complications
  • Eye Diseases / genetics*
  • Eye Diseases / pathology
  • Female
  • Fundus Oculi
  • Humans
  • Male
  • Microscopy, Electron
  • Nervous System Diseases / etiology
  • Pia Mater*
  • Plasmapheresis
  • Retinal Vessels / pathology
  • Spinal Cord / pathology