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

A 25-year-old man was admitted to the Department of Neurology, Gunma Univer sity Hospital, in June 1997. He had an intellectual disability and had suff ered from repeated Infection since childhood. Cerebellar ataxia had develop ed at 19 years of age and he had been clinically diagnosed with ataxia tela ngiectasia (AT) comprising cerebellar ataxia and oculocutaneous telangiecta sia at 24 years of age. He died from pneumonia and renal failure at 26 year s of age. Neuropathological examination revealed Purkinje cell loss and atr ophy of the dentate nuclei in the cerebellum, anterior horn-cell atrophy an d demyelination of the gracile fasciculi in the spinal cord, and the existe nce of nucleocytomegalic cells in the anterior pituitary gland. These neuro pathological findings correlated with previously reported cases of AT. In a ddition, spongy degeneration was found, predominantly around the blood vess els in the cerebral cortex. Diffuse spongy degeneration and multiple foci o f coagulative necrosis with calcification were noted in the white matter. A bnormal vasculature was noted in both degenerative and necrotic areas in th e cerebral cortex and in the white matter. The vessels at the center of the areas of spongy degeneration in the cerebral cortex had irregularly arrang ed and enlarged smooth-muscle-cell nuclei and a distorted, narrow lumen. Th e vessels present in the white matter were hyalinized. To our knowledge, th ese vascular abnormalities in the brain parenchyma have not been reported p reviously.