Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.
Prognosis is poor.
Published data regarding the treatment of NHL in patients with AT suggested that these children respond poorly to therapy. Diagnosis of AT was established after tumor diagnosis. The therapeutic response was prompt, but therapy had to be stopped because of severe side effects. Then tumors in both kidneys occurred and the child died a few months later. Congenital immune deficiency should be ruled out at diagnosis of rare malignancies in respect to age.