ABCL-311: The Burden of Non-Hodgkin Lymphoma Developed in an Ataxia Telangiectasia Child

Context: Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by progressive neurologic impairment, cerebellar ataxia, immunodeficiency, ocular and cutaneous telangiectasia, and predisposition to malignancy. AT patients have a 100-fold increased risk for the development of lymphoid malignancies, particularly non-Hodgkin lymphomas (NHL). In these patients, severe pulmonary infections are the most frequent cause of death, followed by the combination of pulmonary infection and malignancy. Objective: Evaluation of a clinical case of hematologic malignancy in a child diagnosed with primary immunodeficiency (PID) AT. Methods: We analyzed clinical records, biopsy of lymph node, evaluation of serum immunoglobulins by ELISA, and neurologic involvement by MRI. Results: A 13-year-old boy diagnosed as AT was referred to the Oncologic hospital due to multiple lymphadenopathy. He was born to non-consanguineous healthy parents. Previous medical history revealed waddling gait when he started walking. He was consulted by a neuropediatrician as being suspected of cerebral palsy. Brain MRI revealed cerebellar vermis hypoplasia with enlargement of cisterna magna. The patient also experienced recurrent respiratory infections. At the age of 12 years, the patient had fever of unknown origin for several months, which was unresponsive to antibiotics, and the patient's cervical and submandibular lymph nodes began to enlarge, which progressed. A biopsy was performed, and the patient was diagnosed with NHL, DLBCL type. On presentation, the patient had multiple enlarged cervical, submandibular, axillary, and inguinal lymph nodes and telangiectasia of the bulbar conjunctiva. Neurologic examination revealed decreased tendon reflexes, ataxia, and dysarthria. Laboratory investigations identified a normal complete blood count and biochemistry tests, but the alpha-fetoprotein level was high. There were decreased levels of IgA and IgG and a high level of IgM. Computed tomography showed involvement of cervical, submandibular, axillary, upper mediastinum, and hilum lymph nodes. The patient received CHOP chemotherapy with a reduced dose. The treatment was well-tolerated, despite neutropenia, grade 3 mucositis, and neutropenic fever. Unfortunately, at the last interruption after chemotherapy, the patient had chickenpox and died due to multiple organ failure. Conclusions: Patients with PID have a high risk of developing cancer. It is important to consider AT in a child with pre-existing ataxia or hematologic malignancy that was diagnosed at a younger age than expected.