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

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.

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease

“…hypoxia) and in some selected disease (58,59). While brain mineralization is not recognized as a classic AT lesion, it has been reported at autopsy in an AT patient (60). Importantly, there were no histopathological lesions of co-morbidities (e.g.…”

Detection of Acute Lymphoblastic Leukemia Involvement in Pleural Fluid in an Adult Patient with Ataxia Telangiectasia by Flow Cytometry Method

“…The diagnosis of AT is based on the typical clinical picture: ataxia and telangiectasia. However, an increase in alpha-fetoprotein (AFP) level and the identification of the AT mutated gene (ATM) may help to make an early diagnosis [2][3][4][5]. Pediatric patients may develop lymphomas and acute lymphoblastic leukemia (ALL), especially of the T-lineage [6].…”

Investigating neural connectivity of corticomotor networks in ataxia telangiectasia: improving our understanding of the clinical phenotype

“…Kamiya and colleagues (148) T1/T2 24 1/0 Findings: coagulated necrosis of brain WM and vascular abnormalities in the brain parenchyma found.…”

“…MRI scans in older patients in their second and third decade also show varied findings in the cerebellar and cerebral lesion progression, such as corpora amylacea, 147 diffuse symmetrical high signal in the central WM of cerebral hemispheres on T2-weighted images, 145 scattered calcified deposits in the cerebrum WM and space occupying lesions in the right frontal lobe WM and left paraventricular WM. 148,154 Both of these lesions were displayed with low intensity on T1-weighted images and high intensity on T2-weighted images. 148 General spinal atrophy and abnormalities in the basal ganglia have also been reported in older A-T patients, 155 supporting post-mortem spinal study findings in older A-T patients, but lacking specific anatomical detail (see 'Spinal Cord' section).…”

“…148,154 Both of these lesions were displayed with low intensity on T1-weighted images and high intensity on T2-weighted images. 148 General spinal atrophy and abnormalities in the basal ganglia have also been reported in older A-T patients, 155 supporting post-mortem spinal study findings in older A-T patients, but lacking specific anatomical detail (see 'Spinal Cord' section).…”