Журнал клинических случаев

Autoimmune Encephalitis as the Sole Presentation of Common Varaible Immunodeficiency: First Report in a Child

Abstract

Abdulhafeez M Khair, Mohammed Ehlayel, Rana Alshami and Khalid Mohamed

Background: Common Variable Immunodeficiency (CVID) is a clinically heterogeneous antibody deficiency syndrome. The usual presentation is with recurrent respiratory infections. There is a strong association between CVID and autoimmune disorders. However, for CVID to present initially and solely with Autoimmune Encephalitis (AIE) is extremely rare. Case report: A previously healthy three years old boy presented with acute encephalopathy and intractable seizures. His clinical features and radiological findings were highly suggestive of AIE. His evaluation has revealed findings consistent with diagnostic criteria of CVID. Recurrent infections have later on evolved during his prolonged illness. Discussion: Both CVID and AIE pose a diagnostic difficulty. The prevalence of autoimmune disorders in CVID patients’ cohort can be up to 50%. However, central nervous system involvement in those patients is rare. The authors are not aware of this presentation being reported in children. Conclusion: In young children presenting with unexplained autoimmune encephalitis, investigations of immune system my reveal CVID, and timely and appropriate management would could be initiated.