Ataxia-telangiectasia (AT) is an autosomal recessive disease that associates combined immunodeficiency with progressive cerebellar ataxia. It is characterized by cerebellar ataxia, oculocutaneous telangiectasia, increased susceptibility to infections, hypersensitivity to radiation and predisposition to malignancy. The aim of this observation is to describe leukemia therapeutic features in AT.
We present a patient with AT complicated by acute leukemia followed in the pediatric immune-Âhematology unit. The diagnosis and management of Leukemia were retrospectively analyzed.
B.I. was followed of AT since 5-year-old. She has been regularly substituted by intravenous immunonoglobulin in addition to anti-infectious prophylaxis. At 14-year-old, she developed acute non-hyperleucocytic T-lymphoblastic leukemia without meningeal involvement. She was treated according to the EORTC58081 protocol (modified). She was allocated to the Avereage Low Risk group (AR1) instead of Average High Risk (AR2). A good response to the prophase was obtained. Induction chemotherapy drugs was decreased (Vincristine from 1.5mg/m2 to 0.7mg/m2 and Daunorubicine from 30 to 10mg/m2). Despite this, the protocol was suspended for 15 days from the 12th day of induction due to severe liver cytolysis and cholestasis. The patient didn’t present medullary aplasia. Chemotherapy was interrupted again at the 28th day of induction because of fever and refractory hypoxemia. She was treated with broad-spectrum antibiotic. She died at 47 days of the beginning of chemotherapy. The post mortem bone marrow aspiration showed a complete remission of leukemia.
Patients with AT present chromosomal instability due to a DNA repair disorder. This may explain severe chemotherapy side effects even at low doses.