Retinocochleocerebral vasculopathy

Medicine (Baltimore). 1998 Jan;77(1):12-40. doi: 10.1097/00005792-199801000-00003.

Abstract

We report 10 patients with retinocochleocerebral vasculopathy and review the clinical and diagnostic considerations in previously reported patients with this uncommonly recognized disease. The clinical manifestations include acute and subacute multifocal and diffuse encephalopathic symptoms, hearing loss, and visual loss attributable to microangiopathy affecting the arterioles of the brain, retina, and cochlea. Diagnosis is facilitated by demonstration of retinal arteriolar occlusions without uveitis or keratoconjunctivitis, mid- to low-frequency unilateral or bilateral sensorineural hearing loss, and numerous small foci of increased signal in the white and gray matter on T2 weighted brain magnetic resonance imaging. Because many conditions may produce any combination of strokelike cerebral symptoms, encephalopathy, hearing loss, and visual loss, the differential diagnosis for retinocochleocerebral vasculopathy includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia. Brain biopsy specimens demonstrate only minimal nonspecific periarteriolar chronic inflammatory cell infiltration with or without microinfarcts. The demonstration of subclinical arteriolar microangiopathy in muscle biopsy specimens, documented in 3 of our patients may assist in making the diagnosis. The clinical course appears to be monophasic. In addition to corticosteroids, treatment options include immunosuppressant agents (cyclophosphamide or azathioprine) aspirin, calcium channel blockers (nimodipine), intravenous immunoglobulin, and plasmapheresis. The etiology of the disease is unknown, but histopathologic and laboratory evidence suggests that an immune-mediated mechanism may be involved.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Audiometry, Pure-Tone
  • Biopsy
  • Brain Diseases / pathology*
  • Cerebrospinal Fluid Proteins / analysis
  • Cochlea / pathology*
  • Diagnosis, Differential
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Migraine Disorders / etiology
  • Muscle, Skeletal / pathology
  • Retinal Artery Occlusion / pathology*
  • Syndrome

Substances

  • Cerebrospinal Fluid Proteins