TY - JOUR
T1 - Central nervous system involvement in common variable immunodeficiency
T2 - A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient
AU - Abati, Elena
AU - Faravelli, Irene
AU - Magri, Francesca
AU - Govoni, Alessandra
AU - Velardo, Daniele
AU - Gagliardi, Delia
AU - Mauri, Eleonora
AU - Brusa, Roberta
AU - Bresolin, Nereo
AU - Fabio, Giovanna
AU - Comi, Giacomo Pietro
AU - Carrabba, Maria
AU - Corti, Stefania
PY - 2018/11/30
Y1 - 2018/11/30
N2 - 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.
AB - 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.
KW - Autoimmunity
KW - Clinically isolated syndrome
KW - Common variable immunodeficiency
KW - Optic neuritis
KW - Optic neuropathy
KW - Primary immunodeficiencies
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U2 - 10.3389/fneur.2018.01031
DO - 10.3389/fneur.2018.01031
M3 - Article
AN - SCOPUS:85057806650
VL - 9
JO - Frontiers in Neurology
JF - Frontiers in Neurology
SN - 1664-2295
IS - NOV
M1 - 1031
ER -