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Updated: Dec 21, 2025
Induction and Clinical Scoring of Chronic-Relapsing Experimental Autoimmune Encephalomyelitis
Published on: July 4, 2007
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
Steffen Syrbe1, Georg M Stettner2, Julien Bally2
1From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany. steffen.syrbe@med.uni-heidelberg.de.
Objective:
To delineate autoimmune disease in association with contactin-associated protein 2 (CASPR2) antibodies in childhood, we reviewed the clinical phenotype of children with CASPR2 antibodies.
Methods:
Retrospective assessment of patients recruited through laboratories specialized in autoimmune CNS disease.
Results:
Ten children with serum CASPR2 antibodies were identified (age at manifestation 18 months to 17 years). Eight children with CASPR2 antibody titers from ≥1:160 to 1:5,120 had complex autoimmune diseases with an age-dependent clinical phenotype. Two children with structural epilepsy due to CNS malformations harbored nonspecific low-titer CASPR2 antibodies (serum titers 1:80). The clinical symptoms of the 8 children with high-titer CASPR2 antibodies were general weakness (8/8), sleep dysregulation (8/8), dysautonomia (8/8) encephalopathy (7/8), neuropathic pain (7/8), neuromyotonia (3/8), and flaccid paresis (3/8). Adolescents (3/8) showed pain, neuromyotonia, and encephalopathy, whereas younger children (5/8) displayed severe hypertension, encephalopathy, and hormonal dysfunction mimicking a systemic disease. No tumors were identified. Motor symptoms remitted with immunotherapy. Mild behavioral changes persisted in 1 child, and autism spectrum disorder was diagnosed during follow-up in a young boy.
Conclusion:
High-titer CASPR2 antibodies are associated with Morvan syndrome in children as young as 2 years. However, CASPR2 autoimmunity mimics systemic disease and hypertensive encephalopathy in children younger than 7 years. The outcome following immunotherapy was mostly favorable; long-term behavioral impairment may occur in younger children.
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