Complicated but successful treatment of a patient with ataxia telangiectasia and pre-B-acute lymphoblastic leukemia

Abstract

Background: Ataxia telangiectasia (AT, Louis-Bar-syndrome) is a rare autosomal-recessive inherited neurocutaneous syndrome characterized by ataxia, occulocutaneous telangiectasia, combined immunodeficiency and an increased risk of malignancies. Pediatric patients may develop lymphomas and acute lymphoblastic leukaemia (ALL), especially of the T-lineage. The prognosis of the malignancies is impaired by the immunodeficiency and the susceptibility to ionising radiation and chemotherapeutics.

Case report: Here, we first report on a patient with AT and pre B-cell ALL. The therapy was administered according to the medium risk arm of the ALL-BFM 2000 study protocol of the German Society of Pediatric Oncology and Hematology. Doses primarily of all alkylating agents, anthracyclins and methotrexate were individually reduced. During reinduction, the patient suffered from a candida pneumonia and sepsis aggravated by a parainfectious encephalitis. Over 1 year after the end of the maintenance therapy the patient is still in complete first remission.

Conclusion: A general recommendation for dose modification in these patients group cannot be made due to the low number of patients suffering from AT and leukaemia. Central registration of these rare patients will potentially facilitate to develop effective chemotherapeutic strategies with tolerable toxicity.