CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
Details
Serval ID
serval:BIB_786C892AD52B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
Journal
Neurology
ISSN
1526-632X (Electronic)
ISSN-L
0028-3878
Publication state
Published
Issued date
2020
Volume
94
Number
22
Pages
e2290-e2301
Language
english
Notes
Syrbe, Steffen
Stettner, Georg M
Bally, Julien
Borggraefe, Ingo
Bien, Corinna I
Ferfoglia, Ruxandra Iancu
Huppke, Peter
Kern, Jan
Polster, Tilman
Probst-Muller, Elisabeth
Schmid, Silvia
Steinfeld, Robert
Strozzi, Susi
Weichselbaum, Annette
Weitz, Marcus
Ziegler, Andreas
Wandinger, Klaus-Peter
Leypoldt, Frank
Bien, Christian G
eng
Research Support, Non-U.S. Gov't
Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18.
Stettner, Georg M
Bally, Julien
Borggraefe, Ingo
Bien, Corinna I
Ferfoglia, Ruxandra Iancu
Huppke, Peter
Kern, Jan
Polster, Tilman
Probst-Muller, Elisabeth
Schmid, Silvia
Steinfeld, Robert
Strozzi, Susi
Weichselbaum, Annette
Weitz, Marcus
Ziegler, Andreas
Wandinger, Klaus-Peter
Leypoldt, Frank
Bien, Christian G
eng
Research Support, Non-U.S. Gov't
Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18.
Abstract
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.
Keywords
Adolescent, Autoantibodies/*blood/immunology, Autoimmunity/*physiology, Brain Diseases/*blood/immunology/therapy, Child, Child, Preschool, Female, Humans, Hypertension/*blood/immunology/therapy, Immunotherapy/methods, Infant, Male, Membrane Proteins/*blood/immunology, Nerve Tissue Proteins/*blood/immunology, Retrospective Studies, Syringomyelia/*blood/immunology/therapy
Pubmed
Create date
21/05/2021 10:09
Last modification date
22/05/2021 6:34