Clinical and Imaging Features of Children with Autoimmune Encephalitis and GFAP Antibodies

Background/Purpose: Recently, glial fibrillary acidic protein (GFAP) antibodies (abs) have been described in adults in conjunction with autoimmune encephalitis (AE). Data on the clinical features and neuroradiological features of pediatric patients with GFAP-associated AE are limited so far.

Objectives: To describe the clinical presentation, radiological features, and outcome of children with AE associated with GFAP abs.

Methods: Children who met the diagnostic criteria for possible AE and tested positive in serum and/or cerebrospinal fluid (CSF) for GFAP abs, a complete dataset, and MR imaging at onset were included.

Results: Sixteen children (6 girls, 10 boys) with AE and serum or CSF GFAP abs were sent to our attention from 12 different hospitals. The median age at onset was 9.1 years (range: 2–16 years). Children presented with a combination of encephalopathy (14/16), headache (12/16), focal seizures (4/16), or ataxia (10/16). CSF pleocytosis was common (11/16, median 261 white cell count/μL, range: 33–438). GFAP abs in serum were detected in 9 children (9/16), in CSF alone in 7 children, and in both serum/CSF in 5 children. MR imaging was abnormal in 13/16 children. Typical features found were freckling lesions in pons and nucleus caudate (8/13) in addition to signal abnormalities around the aqueduct (8/13) and myelin indicative of transverse myelitis (TM/LETM) (4/11). Thirteen children had a favorable outcome at discharge (mRS of < 2). Six children had up to five additional demyelinating relapses, in part associated with persisting GFAP abs. Two patients died during follow-up, of which one was associated with the patient's initial GFAP astrocytopathy.

Conclusion: GFAP-ab-associated AE represents an important subtype of AE in children with typical neuroimaging features. Besides MRI imaging, we recommend that GFAP abs testing to be included in the work-up of children with suspected AE in particular in the presence of brainstem involvement.

Publikationsverlauf

Artikel online veröffentlicht:
13. November 2023