Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review

Pathol Int. 2001 Apr;51(4):271-6. doi: 10.1046/j.1440-1827.2001.01199.x.

Abstract

A 25-year-old man was admitted to the Department of Neurology, Gunma University Hospital, in June 1997. He had an intellectual disability and had suffered from repeated infection since childhood. Cerebellar ataxia had developed at 19 years of age and he had been clinically diagnosed with ataxia telangiectasia (AT) comprising cerebellar ataxia and oculocutaneous telangiectasia at 24 years of age. He died from pneumonia and renal failure at 26 years of age. Neuropathological examination revealed Purkinje cell loss and atrophy of the dentate nuclei in the cerebellum, anterior horn-cell atrophy and demyelination of the gracile fasciculi in the spinal cord, and the existence of nucleocytomegalic cells in the anterior pituitary gland. These neuropathological findings correlated with previously reported cases of AT. In addition, spongy degeneration was found, predominantly around the blood vessels in the cerebral cortex. Diffuse spongy degeneration and multiple foci of coagulative necrosis with calcification were noted in the white matter. Abnormal vasculature was noted in both degenerative and necrotic areas in the cerebral cortex and in the white matter. The vessels at the center of the areas of spongy degeneration in the cerebral cortex had irregularly arranged and enlarged smooth-muscle-cell nuclei and a distorted, narrow lumen. The vessels present in the white matter were hyalinized. To our knowledge, these vascular abnormalities in the brain parenchyma have not been reported previously.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / pathology*
  • Blood Vessels / pathology
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cerebrovascular Circulation*
  • Fatal Outcome
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Spinal Cord / pathology
  • Tomography, X-Ray Computed