Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient

Abstract

Common Variable Immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies sharing defective B lymphocytes maturation and dysregulated immune response and resulting in impaired immunoglobulin production. Clinical picture encompasses increased susceptibility to infections, hematologic malignancies, inflammatory, and autoimmune diseases. Neurological manifestations are uncommon and optic neuritis has been previously reported only in one case with bilateral involvement. We hereby report a case of a 26-year-old man affected by CVID undergoing regular immunoglobulin supplementation, who presented with acute unilateral demyelinating optic neuritis and lymphocytic pleocytosis in the cerebrospinal fluid. A variety of infectious, inflammatory, and neoplastic conditions were excluded and a diagnosis of clinically isolated optic neuritis was made. The patient was treated with a short course of intravenous steroids with complete recovery. Overall, this case expands our current knowledge about clinical spectrum of complications in CVID and highlights the need for further research about this complex disease.

Keywords: autoimmunity; clinically isolated syndrome; common variable immunodeficiency; optic neuritis; optic neuropathy; primary immunodeficiencies.

Figure 1

Enlargement and hyperintensity of the optic nerve in fat-suppression MRI techniques (Short-tau inversion recovery or STIR sequence on the left and spectral presaturation with inversion recovery or SPIR sequence on the right). Fat-suppression sequences are useful to identify signal abnormalities of structures surrounded by fatty tissues, such as the optic nerve.

Figure 2

Pattern shift visual evoked potentials showed a marked delay of the P100 component at 15′ (upper) and at 60′ (lower) in the left eye (P100 latency at 15′: 111 ms in the left eye, 98 ms in the right eye; P100 latency at 60′: 114 ms in the left eye, 97 ms in the right eye).