case_images: PMC11178103_01
case_images: Magnetic resonance images (MRIs) of the patient's brain showing discrete cerebellum atrophy. (A) Sagittal T1-weighted brain MRI. Axial T1- (B) and T2- (C) weighted brain MRI.
case_images: fneur-15-1344018-g001.jpg
case_images: PMC11178103_01_fneur-15-1344018-g001.jpg
case_images: fig1
case_images: Brain MRI performed at 3 years of age showed discrete cerebellum atrophy (Figure 1).
case_images: Family pedigree diagnosed with the compound heterozygous ATM pathogenic variant. The arrow in the pedigree member shows the A-T patient. The sister of the proband had A-T associated with immunodeficiency (A-T + ID). Black half-filled pedigree members indicate cancer cases (cancer types are mentioned in the pedigree).
case_images: fneur-15-1344018-g002.jpg
case_images: PMC11178103_01_fneur-15-1344018-g002.jpg
case_images: fig2
case_images: The proband's mother (III-6) and aunt (III-8) both had breast cancer, and her paternal cousin was treated for autism (Figure 2).