Brainstem infarction in common variable immunodeficiency with adenosine deaminase 2 deficiency: case report

Abstract Purpose : We present the case of a 24-year-old male with CNS granulomatosis due to a common variable immunodeficiency (CVID) syndrome and deficiency of adenosine deaminase 2 (DADA2) as a cause of brainstem infarction. Methods : Case report and review of literature. Case : The patient’s medical history consisted of an unknown immunodeficiency syndrome. Based on former findings, CVID was diagnosed. The patient suffered from three consecutive brainstem strokes of unknown etiology within three years. An MRI scan detected gadolinium-enhancing, granulomatous-suspect lesions in the interpeduncular cistern, temporal lobe, and tegmentum. Laboratory analysis confirmed CVID, with leukopenia and immunoglobulin deficiency. Because granulomatous CNS inflammation was suspected, the patient received methylprednisolone immunosuppressive therapy, which led to partially-regressive MRI lesions. However, in contrast to imaging the patient showed a progressive cerebellar syndrome, indicating plasma exchange therapy and immunoglobulin treatment, which led to rapid symptom amelioration. After a relapse and a further stroke, expanded analysis confirmed DADA2 as the inflammatory cause, with concomitant CVID for recurrent stroke. Conclusion : We present the case of a young adult with diagnosis of DADA2 as cause of CVID and recurrent stroke due to vasculitis. This stroke etiology is rare but should be considered as cause of recurrent stroke of unknown origin in young patients.