ASNR22/SNR XXII Proceedings
Purpose This is a 69-year-old male who presented with cognitive decline, hypophonia, dyspraxia, course tremor, myoclonic jerks, and gait dysfunction, all developing over 3-4 weeks. Initial head CT and MRI brain without contrast were negative. EEG demonstrated diffuse slowing. CSF analysis revealed elevated protein and elevated white blood cells (lymphocyte predominant). Given neurological worsening, MRI brain and cervical spine with contrast were performed and unique findings were identified, detailed below. The CSF autoimmune panel returned positive for Glial Fibrillary Acidic Protein (GFAP). The patient was started on steroids with rapid clinical improvement. Materials and Methods MRI brain with contrast 2 weeks after initial imaging demonstrated extensive, predominantly periventricular curvilinear enhancement in a perivascular distribution. MRI cervical spine demonstrated symmetric posterolateral pathological enhancement within the cord. Given these findings and the CSF results, a diagnosis of autoimmune GFAP astrocytopathy was established, and the patient was started on steroid therapy. Repeat MRI brain with contrast 2 weeks later demonstrated marked interval decrease in the perivascular enhancement, with mild residual periventricular enhancement. Follow-up MRI brain with contrast 5 weeks after beginning steroid therapy demonstrated complete resolution of abnormal perivascular enhancement. Results First described in 2016, autoimmune GFAP astryocytopathy is a rare autoimmune inflammatory central nervous system (CNS) disorder. Typical symptoms include subacute progressive encephalopathy, involuntary movements, autonomic dysfunction, and fever. Key imaging findings include curvilinear periventricular enhancement in a perivascular distribution, which can also be seen in the infratentorium and spinal cord. Cases generally feature elevated CSF protein and CSF pleocytosis. The vast majority of cases have been in parainfectious and paraneoplastic settings. Treatment regimens are not yet well-established, but patients who are treated with early immunotherapy generally show marked resolution of symptoms over a period of weeks. Conclusions Autoimmune GFAP astrocytopathy is a rare, novel immunotherapy-responsive inflammatory CNS disorder with key imaging findings including curvilinear periventricular enhancement in a perivascular distribution, with similar abnormal perivascular enhancement in the infratentorium, and spinal cord involvement. The findings share similarity to CLIPPERS syndrome, though more extensive
Dearden A, Doty J, Krishnan A, Fellows J. A rare case of autoimmune glial fibrillary acidic protein astrocytopathy. ASNR22/SNR XXII Proceedings. 2022 May 16-18;350-351.