An Atypical Case of GFAP Astrocytopathy

Abstract

Objective To describe a case of anti-GFAP astrocytopathy with atypical features. Background Glial fibrillary acidic protein (GFAP) astrocytopathy is a steroid-responsive autoimmune meningoencephalitis that is commonly characterized by preceding viral illness followed by encephalopathy and papillitis without significant effect on visual acuity. We describe an atypical case of GFAP astrocytopathy presenting with profound vision loss and intracranial hypertension. Design/Methods Case Report Results 31 yo male with a history of hypertension developed flu-like symptoms for one week. Subsequently, he experienced blurry vision and presented to the hospital. He was found to be hypertensive with acute kidney injury. He was treated for hypertensive urgency and discharged. However, patient's vision continued to deteriorate and he developed non-threatening visual hallucinations. He was readmitted to the hospital. His eye exam revealed bilateral loss of visual acuity, retinal hemorrhages and severe papilledema. His laboratory work-up was notable for LP findings of lymphocytic pleocytosis, elevated protein and opening pressure of 54. He was started on acetazolamide and transferred to tertiary medical center. There, he developed encephalopathy with psychosis. An extensive infectious/ autoimmune/malignancy workup was completed. This included three repeat LPs showing persistent intracranial hypertension, lymphocytic pleocytosis, high protein and oligoclonal bands. He underwent imaging with CT chest/abdomen/pelvis, MRV and MRI head/orbits, which showed no evidence of malignancy, patent vasculature and pachymeningeal enhancement, respectively. His work-up was notable for positive IgG GFAP in CSF leading to diagnosis of GFAP astrocytopathy. He was treated with pulse dose IV steroids followed by slow steroid taper and concurrent PLEX therapy. Due to severity of case, he was later started on cyclophosphamide. For papilledema, he was continued on acetazolamide and underwent bilateral optic nerve sheath fenestration. Overall, his encephalopathy resolved but vision remained poor. Conclusions This case illustrates an unique manifestation of GFAP astrocytopathy including rapid visual loss, persistent intracranial hypertension and absence of characteristic MRI findings.