Autoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises

• Published in: Journal of neuroimmunology Vol. 359; p. 577695
• Main Authors: Equiza, Jon, Rodríguez-Antigüedad, Jon, Campo-Caballero, David, Iruzubieta, Pablo, Prada, Álvaro, Roncancio, Andrés, Fernández, Esther, Ganzarain Oyarbide, Maialen, Arruti, Maialen, Urtasun, Miguel Angel, Castillo-Triviño, Tamara
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.10.2021
• Subjects: Astrocytes - immunology; Astrocytes - metabolism; Autoimmune Diseases of the Nervous System - cerebrospinal fluid; Autoimmune Diseases of the Nervous System - diagnostic imaging; Autoimmune Diseases of the Nervous System - immunology; Autoimmune encephalitis; CNS hyperexcitability; Diagnosis, Differential; Encephalomyelitis - cerebrospinal fluid; Encephalomyelitis - diagnostic imaging; Encephalomyelitis - immunology; GFAP astrocytopathy; Glial Fibrillary Acidic Protein - cerebrospinal fluid; Glial Fibrillary Acidic Protein - immunology; Humans; Hyperekplexia; Male; Meningoencephalomyelitis; Tuberculosis, Meningeal - cerebrospinal fluid; Tuberculosis, Meningeal - diagnostic imaging; Tuberculosis, Meningeal - immunology; Young Adult; GFAP astrocytopathy; CNS hyperexcitability; Meningoencephalomyelitis; Hyperekplexia; Autoimmune encephalitis
• ISSN: 0165-5728; 1872-8421
• DOI: 10.1016/j.jneuroim.2021.577695

The autoimmune GFAP astrocytopathy has been associated with meningoencephalomyelitis that usually responds to glucocorticoids. We report a 20-year-old man that developed an acute and severe meningoencephalomyelitis with remarkable CNS hyperexcitability and oculogyric crises. CSF analysis showed hypoglycorrhachia, pleocytosis, elevated ADA, and CSF-immunofluorescence characteristic of autoimmune GFAP astrocytopathy. MRI showed lesions at thalamus, corpus-callosum, dorsal pons and dentate nucleus with associated myelitis. Immunotherapy led to a full recovery, although MRI activity was observed at follow-up. CNS hyperexcitability, typically seen in other immune-mediated syndromes, represents a novel presenting form to be included as part of the clinical spectrum of this entity. [Display omitted]