Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy.

Neurol Neuroimmunol Neuroinflamm

From the Departments of Pediatric Neurology (S.S., A.B., K.R.), and Pediatric Radiology (A.P., R.C.), Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany; Consultant Child Neurologist and Epileptologist at Neoclinic Children's Hospital (V.J.), Jaipur, India; Department of Pediatric Neurology (T.K.), Children's Hospital Datteln, University Witten/Herdecke; Faculty of Health (T.K.), Department of Psychology and Psychotherapy, Chair of Personality Psychology and Diagnosis, Witten/Herdecke University; Center for Paediatric and Adolescent Medicine (U.D.), University Medical Clinic, Mainz; University Children's Hospital Regensburg (KUNO) (T.G.), Hospital St. Hedwig of the Order of St. John, University of Regensburg; Department of Pediatric Neurology (A.N.), VAMED Klinik Geesthacht; Department of Pediatrics (A.N.), University Medical Center Hamburg-Eppendorf; Department of Pediatric Neurology (C.L.-N.), Mutterhaus der Borromäerinnen, Trier; Department of Pediatric Intensive Care (R.A.-H.), University Children's Hal Marburg; Department of Pediatric Neurology (M.F.-B.), Saarland University Medical Center, Homburg/Saar, Germany; Assistance Publique-Hôpitaux de Paris (K.D.), Paris-Saclay University Hospitals, Bicêtre Hospital, Pediatric Neurology Department, National Referral Center for Rare Inflammatory and Auto-immune Brain and Spinal Diseases, Paris Saclay University, France; Neuroimmunology Unit (T.A.), in Sant Joan de Déu Children's Hospital, Esplugues de Llobregat, Barcelona; Neuroimmunology Program (T.A., G.O.-C.), Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic, University of Barcelona; Neurology Unit (G.O.-C.), Hospital Parc Taulí de Sabadell, Sabadell, Barcelona, Spain; Neuroimmunology Laboratory (S.K.), Amrita Institute of Medical Sciences, School of Medicine, Amrita University, Kochi, India; Department of Pediatrics (A.K.); Center for Rare Diseases (A.K.), Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany; Department of Pediatric Neurology (H.M.); Pediatric Neurology Institute (A.F.-V.), Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center; Sackler Faculty of Medicine, Tel Aviv University; Institute of Pediatric Neurology (E.G.-C.), Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel; University Children's Hospital Oldenburg (H.L.), Department of Neuropediatrics, Oldenburg; Neuropediatric Unit (A.H., R.W.), Karolinska University Hospital and Karolinska Institute Stockholm, Sweden; and Institute of Clinical Chemistry (J.D., F.L.), Neuroimmunology Unit and Department of Neurology, University Medical Center Schleswig-Holstein Campus, Kiel, Germany.

Published: January 2025

This study investigates the clinical and MRI characteristics of children with autoimmune GFAP astrocytopathy, revealing limited data compared to what is known in adults.
Researchers analyzed cases of 15 children from various clinical centers, finding common symptoms like acute encephalitis and meningitis, and specific MRI patterns in all cases.
The findings suggest that GFAP antibodies lead to distinct clinical and imaging features, emphasizing the need for testing in pediatric patients with similar symptoms, especially those with brainstem involvement.

Background And Objectives: Glial fibrillary acidic protein (GFAP) antibodies (abs) have been described primarily in adults with a spectrum of autoimmune-mediated diseases. In children, data on clinical and neuroradiologic features of children with autoimmune GFAP astrocytopathy are limited. The aim of this study was to describe the clinical and radiologic features in children with GFAP-ab-associated diseases.

Methods: We retrospectively recruited children from 13 clinical centers between 2020 and 2023 who (1) tested positive for GFAP-ab in serum and/or CSF and (2) of whom a complete clinical and MRI data set was available.

Results: We identified and included 15 children (5 girls, 10 boys). The median age at onset was 9.9 years (range: 2-16 years). All children presented with features of AE or meningitis, acute cerebellitis, or transverse myelitis. CSF pleocytosis was common (13/15, median 245 cells/μL), and 13 (87%) of 15 harbored GFAP-abs in their CSF, 8 (53%) of whom did not have detectable GFAP-abs in their serum. MRI was abnormal in 15 (100%) of 15 children: Specific patterns included confluent lesions in the pons or caudate nucleus (11/15; 73%), peri-aqueductal regions (13/15; 87%), and spinal cord (6/10; 60%). 12 children had a favorable outcome (mRS score of
Discussion: GFAP-ab-associated diseases encompass a wide spectrum of clinical presentation associated with a particular set of MRI features clearly distinct to other antibody-mediated diseases or MOGAD. We recommend that testing for GFAP-abs in serum and CSF be included in the workup of children with AE, particularly if brainstem involvement occurs.

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http://dx.doi.org/10.1212/NXI.0000000000200327	DOI Listing

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