Pathological findings in three cases of ataxia-telangiectasia

Abstract

Clinical features of ataxia-telangiectasia include progressive cerebellar ataxia, cutaneous telangiectases, involuntary movements, loss of tendon reflexes, intellectual deterioration, and small stature. A severe degeneration of the cerebellar cortex is seen histologically as well as a loss of myelinated nerve fibers in the posterior columns of the spinal cord. In addition to the typical findings, the 3 cases described had abnormalities in the peripheral nervous system. These included fewer satellite cells in spinal and sympathetic ganglia, large satellite cells with large odd-shaped nuclei, and enlarged Schwann cells in peripheral and autonomic nerves. Motor denervation of distal skeletal muscles was evident, giant acidophil and mucoid cells were present in the anterior pituitary, and the sex organs were atrophied.