ATM and Cerebellar atrophy: We herein present a Chinese patient with A-T who carries compound heterozygous variants in the <i>ATM</i> gene and conducted a literature review for A-T in China.<h4>Case presentation</h4>A 7-year-old Chinese girl presented with growth retardation, ataxia, medium ocular telangiectasia, cerebellar atrophy, and elevated serum alpha-fetoprotein (AFP) level, which supported the suspicion of A-T.