X-linked agammaglobulinemia rare disease with a rarer presentation

Abstract

X-linked agammaglobulinemia (XLA) is a rare disorder, characterized by absence of mature B cells leading to severe antibodies deficiency. This translates to recurrent sinopulmonary infections in affected children. The most common age group of presentation is 6 months to 2 years. Being an X-linked recessive disorder males are affected, females are carriers. Intravenous immunoglobulins and antibiotics remains the corner stone of treatment. Here in, we report a case of 11-year-old male having recurrent episodes of fever with one episode of hospitalization 3 years back. Child was treated at healthcare facility elsewhere for recurrent fever. He presented to our institute with signs and symptoms suggestive of meningitis, investigated, had culture proven Staphylococcus aureus meningitis with a low Absolute Lymphocyte Count (ALC). On further work up found to have low serum immunoglobulins (IgG, IgM, IgA) and Flowcytometry showing absence of B cells (CD19/CD20). Child was diagnosed to have XLA. This case highlights the importance of having strong clinical suspicion of XLA, despite not having recurrent sinopulmonary infections.