A Case of Ataxia Telangiectasia Followed for Thirty Years(Papers for Cerebrating the Fifth Aniversary of the Directorship of Prof. M. Osawa at the Department of Pediatrics, Tokyo Women\u27s Medical University)

We followed a man with ataxia telangiectasia (AT) for 30 years. His developmental milestones were normal up to one year of age. At the age of 20 months he visited our hospital because of unsteady gait. On first examination we found mild telangiectasia in the conjunctivae of his eyes. At about seven years of age, he began to troubled by choreoathetosis and extensive and vigorous involuntary movement of his trunk. These became progressively worse untill about 20 years of age. Thereafter the involuntary movements improved gradually to 25 years of age, which may have been due to progression of peripheral neuropathy. He lost the ability to walk by 9 and to feed himself with his hands by 13 years of age. He suffered from recurrent respiratory infections throughout his life. Prolonged respiratory infections at the age of 25 years left him with multiple cysts in the right upper lobe of his lung. At the age of 31, he died of acute bronchopneumonia complicated with chronic respiratory failure. He had elevated levels of alphafetoprotein, constant peripheral lymphopenia and low serum levels of IgE, consistent features of patients with AT. Autopsy showed grossly atrophic cerebellum. Cerebrum and brain stem were intact except for slight frontal lobe atrophy. Imumunohistochemistry and Western blotting revealed an ataxia telangiectasia gene (ATM) protein defect of in the cerebellar cortex.小児科学教室大澤真木子教授開講5周年記念特