Demyelinating lesions as a presenting feature of pernicious anaemia: Case report and literature review

Abstract

Background: Pernicious anaemia (PA) describes megaloblastic anaemia resulting from cobalamin deficiency that is due to the absence of intrinsic factor (IF). Most cases are autoimmune in origin, with antibodies to parietal cells, IF or the cobalamin -IF complex. Methods: We report the clinical features, investigation and treatment of a patient in whom the first presentation of PA was demyelinating brain lesions. The patient presented with clinical features initially of neurological impairment and subsequently anaemia. Imaging studies were consistent with demyelinating lesions extending from the cortex to the midbrain. Peripheral blood and bone marrow findings were consistent with megaloblastic anaemia, which were confirmed by subnormal serum cobalamin levels. The patient was treated with parenteral cobalamin and oral folic acid. Results: The patient responded with complete resolution of anaemia and complete clinical neurological response. Conclusion: Clinical, laboratory and radiologic findings are important in the screening of patients presenting with demyelinating lesions, as these may help in the diagnosis of rare cases of PA. These tests are just as relevant even in the young African female population.