CPID 2: A RARE CASE OF PULMONARY LYMPHOMATOID GRANULOMATOSIS IN A PATIENT WITH ATAXIA TELANGIECTASIA

Abstract

Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder associated with immune deficiency and cancer susceptibility caused by a defect in the ataxia-telangiectasia mutated (ATM) gene resulting in impaired DNA repair. Lymphoma and leukaemia is the most commonly associated malignancy with childhood AT. Case history: Our patient is a 10-year-old boy with genetically confirmed AT who has become progressively ataxic and was wheelchair dependent by 7 years of age. He has had recurrent pulmonary infections complicated by bronchiectasis with ongoing lymphopenia and impaired polysaccharide vaccine responses. His management has included intravenous immunoglobulin infusions, chest physiotherapy and Pneumocystis jiroveci prophylaxis. At 11 years of age, he presented with left lower lobe pneumonia unresponsive to antibiotics, associated with night sweats, weight loss and an elevated LDH. A chest MRI revealed a 9.1-cm solid left lower lobe pulmonary mass with central necrosis and 1.6 cm splenic lesion. Biopsy of the pulmonary lesion demonstrated EBV positive, large atypical B lymphocytes (CD20+, Oct2+, MUM1+) within polymorphous T lymphocytes and histiocytes infiltrate, with central necrosis. This was consistent with grade 3 Lymphomatoid Granulomatosis (LG). He has responded well to reduce intensity chemotherapy with significant reduction in tumour size. Conclusion: Lymphomatoid granulomatosis is an EBV-associated angiodestructive B cell lymphoproliferative disease which typically presents in middle adulthood with pulmonary involvement in over 90% cases, followed by involvement of skin, brain and kidneys. It is rare in paediatrics and described more frequently in immune-compromised patients. Despite treatment, the cumulative 5-year mortality ranges from 50% to 65%, with a median survival of 14-16 months. An extensive literature search (Medline, PubMed) did not identify any reported cases of LG complicating AT; however; it is possible that as an early form of B cell lymphoma, this may have been classified simply as lymphoma in other case reports.